Spring 2005 - The Canadian MPS Society

Highlights
in this issue:
Board Member Profile
Carrie Nimmo — pg. 6
A letter from Melissa Bilodeau —
pg. 16
Upcoming Conferences and EventsResearch Updates — pg. 18
Fundraising: A Special Walk for
Special Kids — pg. 28
Spring 2005
InThis Issue
Director Reports
4
The Canadian MPS Society’s Mission Statement:
Board Member Profile
6
The Canadian MPS Society is committed to:
Correspondence
7
•
Disney Conference
8
Providing support to families affected with MPS and
related diseases.
New Scientific Protocol/Welcome
9
•
Donations/Memorials
10
Educating medical professionals and the general public about MPS and related diseases.
Happy Birthday Wishes
11
•
Advocacy
12
Raising funds for research so that one day there will
be cures for all types of MPS and related diseases.
Family News
15
Up-coming Conferences & Events
18
Research Updates
19
Medical Matters
22
National MPS Awareness Day
26
Fundraising
27
MPS Forms & Information
37
THE CANADIAN SOCIETY FOR MUCOPOLYSACCHARIDE
& RELATED DISEASES INC.
PO Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
What are MPS & Related Diseases?
Lysosomal storage diseases (LSDs) are rare, progressive genetic
disorders. Often, these diseases are inherited from parents
who have no idea they carry the responsible recessive genes.
People born with MPS and related lysosomal storage diseases
cannot produce certain enzymes necessary for breaking down
and recycling cells. Consequently, these cells store throughout the bodies of those with LSDs, in areas including their
hearts, respiratory systems, bones, joints, and central nervous
systems.
Babies may show no signs of disease, but as more cells become
damaged and storage increases, symptoms begin to appear.
For more detailed information about individual diseases,
treatments and research, please visit our website at
www.mpssociety.ca or order one of our disease-specific booklets from the order form on page 39
Tel (604) 924-5130/1-800-667-1846
Fax (604) 924-5131
kirsten@mpssociety.ca/www.mpssociety.ca
Charity # 12903 0409 RR0001
Smiling faces on the front cover:
Top: Mélissa and Olivier Bilodeau (MPS IV)
Bottom left: Monika Nelis (MPS I) Bottom right: Andrew (MPS II) and Bradley Lanese at school
Please submit pictures of your children’s smiling faces for the cover of the Connection
Those who bring sunshine to
the lives of others cannot
keep it from themselves.
- Sir James M Barrie
Page 2
Do you have family news, photos,
fundraising news or an interesting article to share with
the Connection’s readers?
Please submit by email, if possible, to kirsten@mpssociety.ca.
Newsletter submission deadlines:
Spring Issue:
Summer Issue:
Fall Issue:
Winter Issue:
February 1st
May 1st
August 1st
November 1st
The Connection
Board of Directors and Medical Advisory Board
Executive Director:
Medical Advisory Board:
Kirsten Harkins
Barbara Boland
L.A. Clarke
PO Box 30034, RPO Parkgate
NFLD representative
M.D,C.M.,F.R.C.P.C.,F.C.C.M.G.
North Vancouver, BC V7H 2Y8
St. John’s, NFLD
Chair
MPS I parent
MPS III parent
University of British Columbia
(604) 924-5130/kirsten@mpssociety.ca
(709) 753-7874/barbara@mpssociety.ca
B. Antle
Board of Directors:
Todd Harkins
Judy Byrne
Chair
Guelph, ON
MPS 1 parent
(519) 836-5949/judy@mpssociety.ca
Debbie Braun
Vice-chair
Wingham, ON
MPS IV parent
(519) 357- 4264/debbie@mpssociety.ca
Carrie Nimmo
Treasurer
Vancouver, BC
(604) 255-5456/carrie@mpssociety.ca
Kathie Stephens
North Vancouver, BC
MPS I parent
(604) 929-8969/todd@mpssociety.ca
Aubrey Hawton
Hospital for Sick Children, Toronto
D. Applegarth
Ph.D., F.C.C.M.G.
University of British Columbia
R. Casey
Moonstone, ON
M.D., M.S.C.
MPS III parent
Alberta Children’s Hospital
(705) 835-5288/aubrey@mpssociety.ca
J.T.R. Clarke
Simon Ibell
M.D., Ph.D.
Toronto, ON
Hospital for Sick Children, Toronto
MPS II
C.R. Greenberg
(416) 929-1904/simon@mpssociety.ca
M.D., C.M., F.R.C.P.
Jean Linden
Winnipeg Children’s Hospital
Prince George, BC
B. A. Gordon
MPS III parent
(250) 564-3698/jean@mpssociety.ca
Mary Nelis
Secretary
Bedford, QC
Dresdon, ON
MPS I parent
MPS III parent
(450) 248-7376-/mary@mpssociety.ca
(519) 683-2486/kathie@mpssociety.ca
Ph.D.
M.D., C.M., Ph.D
London, ON
E. Hetty
M.D., C.C.R.P.
University of British Columbia
M. Ludman
M.D., F.R.C.P.C., F.C.C.M.G.
Dalhousie University Faculty of Medicine, IWK Health Centre
Accountant:
BDO Dunwoody, Toronto, ON
MPS Bank Account:
TD Canada Trust
Spring 2005
Page 3
Chair’s Report
Happy New Year to all! I hope
by the time you receive this newsletter, the majority of our winter
will be over!
I would like to thank
all those who took an interest in
our special meeting on January
21, 2005, in order to finally approve our amended by-laws. We
are pleased to report that the
approved amendments have gone
to Industry Canada and we are
eagerly awaiting their approval.
Thanks to Corri Kaweski for
keeping her interest in this project for so many years!
The Board has been busy over the last quarter putting in place many long overdue committees. As of January,
we know have five committees, dedicated to certain aspects of
our Society:
Fundraising Committee: this committee will be in charge
of coordinating all fundraising activities, initiating new ideas,
and setting up some goals for the coming year.
Public Relations Committee: this committee will be looking
for ways to make MPS diseases more known across the country.
Advocacy Committee: we envision this committee to be able
to advocate for both the Society as well as for our families.
We hope to be able to help individual families with any difficulties they have with their government, school boards, or
perhaps even with doctors, hospitals and pharmaceutical
companies.
Family Support Committee: We have had our FAP in place
for many years, but we wanted to have a committee dedicated
exclusively to reviewing the applications, and perhaps updating our guidelines to make them more applicable to the challenges our families are currently facing.
Conference Committee: Believe it or not, we have to start
planning our 2006 conference now. We are looking at
changing our location this year, but of course, will have to
make sure the site is agreeable to the most families.
What is most exciting about these committees is
that you do not have to be a board member to participate.
If you have an interest in any of these areas, please contact
me and we will be happy to take your ideas and put you to
work! You can help on a project by project basis, or take a
more active and permanent role. The degree of participation
is up to you, but we always welcome new faces. I look forward to reporting on the successes of these committees in
upcoming newsletters.
Judy Byrne
Page 4
Executive Director’s Report
Happy Spring everyone! It’s hard to believe that we already
have daffodils blooming in Vancouver, yet there they are,
appearing as reminders that life is beginning anew all around
us and opening our eyes to the promises of this beautiful,
hopeful time of year.
With spring comes – what else? – hockey! Who
needs the NHL to enjoy some post-season cup fever? We are
in the midst of planning the 3rd annual MPS CUP Fantasy
Hockey Game and Gala, to take place May 7th, and are excited to once again give people an opportunity to play for the
love of the game with their hockey heroes and help kids raise
their arms in victory over MPS. Visit www.mpscup.ca for full
event information and see page 34 for ideas about how you
can participate, even if you don’t live near Vancouver. The
MPS CUP not only raises a significant amount of money for
the Society, but more importantly it gives us a forum to educate the public about MPS and related diseases. Get in the
game and join our winning MPS CUP team!!!
I am so impressed with the continued and varied
fundraising efforts of many of our members and I thank all
of you for your heart-felt efforts. Please read the fundraising
section (beginning on page 27) for information on the Taylor
family’s “Sadie Hawkins Bingo Bowl,” the Nelis-Dupont family’s “Walk with Nature,” as well as Canadian MPS Jeans
Days at Secord Elementary and Saint Alexander Catholic
Schools. I’m sure you will be as moved as I was when I read
Mélissa Bilodeau’s letter to the Society (page 15) – she and
her brother Olivier have been crowned the Children’s Miracle Network’s Champion Children of Quebec, and you will
understand why after reading about their triumphs over adversity. We thank the Mélissa and Olivier Bilodeau Foundation for their continued support of the Society through their
financial contributions as well as their educational initiatives.
It’s by working together that we can fulfill our mandate of
family support, education and research.
Speaking of research, I am pleased to announce
that, due to collaboration with Simon Ibell’s Bike 4 MPS, our
Society is able to continue to support research into the pathophysiology of MPS I (Please see page 20 for more information) at Dr. Lorne Clarke’s research lab. Our recent
$30,000.00 grant will bring this fiscal year’s research grant
allocations to $47,302.00! As our budget continues to grow,
we will develop a competitive grant review process and set
research priorities with the support of our Medical Advisory
Board (MAB). We have two distinguished new members of
our MAB, Dr. Elly Hetty, a clinical research coordinator at
the University of British Columbia, and Dr. Mark Ludman, a
Professor in the Departments of Pediatrics and Medicine and
Head of Medical Genetics at Dalhousie University Faculty of
Medicine and IWK Health Centre in Halifax, NS. I thank
them for their participation and look forward to working
with them toward a brighter future for all MPS children.
The Connection
Executive Director’s Report
Canadian Organization for Rare Diseases:
CORD has developed an Orphan Drug Policy (ODP) in
hopes of having it implemented by Health Canada. Key
elements of the ODP are:
1. Adopting a patient’s bill of rights.
2. Increasing awareness of rare disorders.
3. Supporting the development of rare disorder treatments.
4. Establishing a patient treatment assistance program.
5. Developing a rare disorder registry in Canada.
The Canadian MPS Society has supported CORD’s efforts
in the past and will continue to work with CORD toward
achieving our common goals. More information about
CORD can be found on their website www.cord.ca.
Judy, Barbara Wedehase—Executive Director of the US
National MPS Society—and Kirsten in Orlando.
Since our last newsletter, Judy and I had the fantastic opportunity to travel to Florida with our families to attend the
National MPS Society’s family conference (please see page 8)
and came away with so many ideas that I hope to implement
over the next several months. The National MPS Society has
declared February 25 “National MPS Awareness Day” (see
page 26), a day to reflect, remember, and honour those in
the MPS and related diseases community. I would like to
take this opportunity thank all of you for joining me on my
MPS journey and I wish you and your families a spring filled
with hope and miraculous new beginnings.
Sincerely,
Kirsten Harkins
Hold your head up high, stick your chest
out. You can make it. It gets dark sometimes but morning comes…..
Keep hope alive.
Global Organization for Lysosomal Diseases:
The goals of GOLD, whose head office is in England, are to
improve education and knowledge about LSDs, foster collaborative research, create standards for diagnosis and testing for LSDs and foster coordination amongst existing patient registries to develop a global resource. .
GOLD’s new website is now online at www.goldinfo.org
New features on the GOLD website include:
•
A searchable database of LSDs.
•
The GOLD membership directory.
•
Discussion forums.
•
Information about GOLD’s Management Council.
•
Forthcoming meetings and conferences.
•
Online membership form.
•
Donations
If you have any comments or suggestions, please contact
Ann Hale at: ann.hale@goldinfo.org or fax/phone +44 (0)
1494 879798. Or, write to GOLD at
Global Organisation for Lysosomal Diseases
PO Box 609
Chalfont St Giles
HP8 4WU
- Jesse Jackson
Spring 2005
UK
Page 5
Board Member Profile
Carrie Nimmo
respect for the artist, the community and the environment.
Her work with community has empowered others by giving
them resources, skills and confidence to be able to celebrate
their creativity.
Carrie has also worked in Vancouver with Public
Dreams (artistic team), Vancouver Moving Theatre
(performer, instructor) and the Karen Jamieson Dance Company (dancer). She has sat on boards and advisory committees of various arts-related organizations including Theatre
MOM and Turning Point.
Carrie worked on the fundraising committee for
the MPS Cup in the spring of 2004 and joined the Canadian
MPS Society Board as treasurer in October 2004. She looks
forward to supporting the society in order to increase public
awareness of MPS and related disorders and to help raise
funds for further research. Carrie plans to perform on stilts
for children attending the 2006 Family Conference.
Carrie Nimmo and husband Tom Gould
Carrie lives in Vancouver with her husband and
two year old son. She is the proud Aunt of Nicklas Harkins,
who suffers from MPS 1.
Carrie Nimmo has been dedicated to creating, managing and
producing theatre, dance and community art for the past
twenty years. Currently she is Artistic and Managing Director of Mortal Coil, a Vancouver based company that creates
imaginative theatre and spectacle for audiences young and
old. The company’s original work has been presented in
schools, theatres and festivals across Canada, the United
States and Europe since 1991. Notable current productions
include:
Lava and Bones, an educational show about the geological
pre-history of Canada, performed over 350 times and slated
to tour Canada and USA in 2006;
Ghost Train and Bright Nights, seasonal installation and
performance events at the Stanley Park Miniature Railway in
Vancouver, BC;
Ultimate High, a series of workshops and performances with
street-involved youth in Vancouver, BC;
Chix on Stix, interdisciplinary stilt spectacles that tour festivals in Canada and the USA.
Carrie has also developed educational programs in
the visual and performing arts for schools, professional performers, the general public and culturally diverse populations in partnership with a variety of community organizations. Carrie, who holds a psychology degree from the University of British Columbia, is committed to creating opportunities for the young and young at heart with integrity and
Page 6
Carrie as the eagle from Treemendous Journey
The Connection
Correspondence
Letters to the Society
To the Society,
Enclosed please find a donation given in memory of Mrs. Ivy
Moore. (Great-Grandmother of Damien and Natasha
Dear Kirsten,
Kaweski) Mrs. Moore was the Mother of one of my oldest
First of all let us congratulate you on assuming your new posi- friends, Mrs. Betty Done of Vancouver.
tion as Executive Director and wish you all the success in your
Thank you for all the good work you do.
endeavours.
Yours Truly,
Please find enclosed a cheque for the use of the Soci- Georgia Thompson
ety in the furtherance of the programmes and endeavours of
Langley, WA
the Society.
May we take this opportunity to wish you, your
Dear Sirs,
Board of Directors, and all the members, and especially the
I am enclosing a donation in memory of Ivy Moore.
children a VERY MERRY CHRISTMAS and a VERY HAPPY I wish you success in your endeavours.
NEW YEAR.
Yours truly,
Yours truly,
Pat Mitchell
Barry and Betty Done (Grandparents of Damien and Natasha Vancouver, BC
Kaweski)
Vancouver, BC
Dear Kirsten,
My great-nephew might have some form of MPS so I tried to
Dear Kirsten,
find information on the web. YOURS IS THE BEST. Thank
I neglected to send my donation to you before Christmas. (I you. I especially appreciate the concise information, the
usually give it to Lori o n Christmas day.) So here it is! Wish- photo gallery, and the children's stories. We are all reeling
ing you and your family much love and happiness in 2005 and from the information we have, and it is especially that it is
all the best in your new role with the MPS Society.
possible to look at some kind of brighter side to this terrible
Thanks,
but still perhaps erroneous news.
Karen (Hurst—Aunt of Matthew Di Ilio)
Anyway, thank you for a useful website. I visited
Pickering, ON
many websites that didn't pan out at all during this search.
Kitty Axelson-Berry
Hi Kirsten,
Amherst, MA
Just a short note to let you know what a wonderful job you
did on your first newsletter.
Congratulations on your appointment. I know your Thinking of
caring and enthusiasm will benefit our beautiful children and
the Society. Keep up the good work.
Moving?
Regards,
Lorraine (Harding—Grandmother of Matthew Di Ilio)
Stouffville, ON
You are
Dear Madam/Sir,
The members of our Catholic Women’s League would very
much like to support your research and services. A donation
cheque of $100.00 is enclosed herein.
May God bless you and strengthen you in your fight
against these diseases.
Yours sincerely,
Our Lady of Perpetual Help Council
Vancouver, BC
Dear Kirsten,
Please accept this donation of $100.00 on behalf of the Cranbrook Kinette Club.
Yours Truly,
Audrey Carpendale
Cranbrook, BC
Spring 2005
important to us.
Please keep in touch….
We don’t like to lose track of members who forget to tell us
that they are moving, so please remember to let us know
your new address. In addition to keeping us in touch, it
prevents us from wasting our precious resources on printing
and postage, so please help us keep our database up-to-date!
Please keep us informed of your new address, telephone
number, e-mail address and any interesting news about your
child. You are very important to us!
Page 7
Disney Conference
The National MPS Society’s Disney
Conference - “Magical Moments”
The American National MPS Society’s Disney Conference
was held in Orlando, Florida from December 16-19th, 2004,
and our family was so pleased to be able to attend along with
Judy, Terry, Sarah and Daniel Byrne. We arrived a couple of
days early so that Judy and I could sit in on the National MPS
Society’s Board and Committee meetings, from which we
received numerous ideas and an incredible amount of inspiration from their hard-working, dedicated team.
The conference itself allowed for plenty of time to
visit Disney World during the days, with educational presentations in the evenings on topics such as care and management of MPS and ML, new treatments and trials, sibling and
grief issues, and much more. As usual, though, it was the
Sarah Byrne (MPS I, 2nd
from right) with new postBMT MPS I friends Sydnee,
Maddy and Eliot (above)
and (left) with her new pal
Kaitlyn (MPS VI).
connections made with others
whose lives are touched by
MPS and related diseases that
made the deepest and most
lasting impressions on us.
We were thrilled to
finally meet the Dant family
from Texas, with whom we
have communicated since our
son Nicklas’s diagnosis in
2001: Ryan Dant is an amazing 16-year-old with MPS I
whose parents, Mark and Jeanne, were instrumental in funding Dr. Emil Kakkis’s enzyme replacement therapy research
which, in the end, saved the lives of Ryan, Nicklas and many
other MPS I children world-wide. Nicklas has forged a special
bond with Ryan, and enjoyed chatting with him and other
MPS boys in the evenings after dinner as much as we enjoyed
our conversations with their parents. There were over 800
conference attendees and just as many inspirational, heartrendering stories, full of grace, courage, humour and incredible bravery. I invite all of you to join us at our next family
conference in the summer of 2006, for it’s the personal connections that sustain us through our life’s challenges and
those connections are what our Society is ultimately all about.
The Harkins family—Kirsten, Jonas, Jansen, Nicklas
(MPS I) and Todd—with Mickey Mouse (above) and
(below) with Jeanne, Mark and Ryan Dant (MPS I).
Page 8
I would like to thank the National MPS Society for
their warm hospitality and a truly wonderful conference!
Kirsten Harkins
The Connection
New Protocol from the University of Minnesota
Scientific protocol for treating children with se- 2. Laronidase (trade name Aldurazyme) is the commercial
vere MPS I with a combination of Stem Cell
Transplantation and Enzyme Replacement
Therapy at the University of Minnesota
The University of Minnesota has been a pioneer in the treatment of children with severe MPS I, also called Hurler syndrome, and other storage disorders using stem cell transplantation (i.e., bone marrow or cord blood transplantation). To
date, approximately 100 transplants have been performed at
the University of Minnesota for Hurler syndrome alone. We
are committed to the comprehensive and long-term care of
these children, including evaluation and treatment of issues
unique to these children before and after transplantation.
Our team has extensive and long-standing experience in the
assessment and treatment of complications of Hurler syndrome, including problems of the eyes, ears, lungs, heart,
bones and joints, as well as neurological difficulties. The University of Minnesota constantly strives to improve results and
outcomes following stem cell transplantation. The most recent such innovation at Minnesota (for children with Hurler
syndrome) is the development of a scientific protocol for the
combined use of enzyme replacement therapy and stem cell
transplantation. The basis of this combination therapy is as
follows:
preparation of the enzyme that is deficient in Hurler syndrome. Laronidase enzyme replacement therapy (ERT) does
not directly benefit the brain in children with Hurler syndrome, and hence does not represent a satisfactory therapy in
itself. However, Laronidase can provide other valuable benefits: in particular, it clears airway obstruction and improves
lung function.
3. Stem cell transplantation is the only proven therapy that
can prevent the progressive mental retardation and give hope
for long-term survival. However, stem cell transplantation is
not free of risks and complications. Children with Hurler
syndrome are particularly prone to get lung and airway related
complications during transplantation.
Based on these observations, we believe that treating
with (ERT) for 12 weeks before and 8 weeks after stem cell
transplantation will decrease complications associated with
stem cell transplantation, thereby improve outcomes and survival in children with Hurler syndrome undergoing transplantation. The University of Minnesota has developed a protocol (the first of its kind) to systematically administer this therapy in a uniform manner as well as to study the results of this
combination therapy as compared to stem cell transplantation
alone.
For more information on this protocol, or to talk to
one of the University of Minnesota stem cell transplant physicians, please contact one of the following:
Satkiran Grewal, MD, 612-625-9428, grewa002@umn.edu
1. Hurler syndrome is the most severe form of Mucopolysac- Chester B. Whitley, Ph.D., M.D., 1-800-888-8642 (Beeper
charidosis I, and is characterized by progressive mental regres- 8325) whitley@umn.edu
sion, heart and airway disease as well as bony deformities;
Paul Orchard, MD, 612-626-2961, orcha001@umn.edu
death typically results in the first 10 years of life.
Do you need respite care? Caring for an exceptional child can be
exhausting—The Maxwell Alexander Settari Foundation has generously donated funds to our Family Assistance Program specifically for respite care. Interested members should submit a Family
Assistance Program application form, found on page 38.
Welcome New Members:
Dick Nimmo—Lake Cowichan, BC. Dick is Nicklas Harkins’s grandfather.
Ken and Helga Irving—White Rock, BC. Ken and Helga are Nicklas Harkins’s great-aunt and great-uncle.
John Ashley Sheltus—Bedford, QC
Lance Myers—Bedford, QC
Jean-Paul Laroque—Stanbridge Station, QC
Spring 2005
Page 9
Donations
British Columbia:
Eian and Anne Maclean
Richard Nimmo
Frank and Verle Kaweski
Kim Zak
Carolyn and Elden Linden
Ron Brent Elementary School
Corri Kaweski
Pharmasave No. 151
Kinette Club of Cranbrook
Elizabeth Knox
Our Lady of Perpetual Help Council
Alberta:
Patrick Stiles and Patty Richards
Barbara Kelbanoff and Tony Settari
Robert and Edna Kidd
Saskatchewan:
Muriel Phelps
Manitoba:
James and Alice TaylorSadie Hawkins’ Day Bingo Bowl
Village Inn Bowl and Cue
Susan Taylor
Ontario:
Marvin and Catherine Bankert
The Great Atlantic and Pacific Company
of Canada Ltd.
Julie and Brad Elgie
Lisa Munro
Steve and Maria Beriault
Dan and Lori Roth
Mr. and Mrs. Donald Roth
Egan Done
Sidney Lipton
Karen and Graham Hurst
Rob and Lori Di Ilio
Saint Alexander Catholic School (see list
of donors on page 31)
Spruce Lodge Seniors’ Residence
Ida Ryan and Perry Huneault
Lorraine and Robert Harding
Abdullah and Nuha Alglaieny
Sonia and Nick Lanese
Mike and Joan Stoll
Leo and Sandra Furoy
Happy Birthday
Paul and Deborah Van Herrewegen
Dr. Joe Clarke
Robin Tewkesbury
Anne and Alexander Cairns
Quebec:
The Nelis-Dupont family’s “Walk with
Nature” (see page 28)
J. Hardy Craft
Lance Myers
New Brunswick:
Ronald and Elizabeth Perry
Kinsmen Club of Nashwaaksis
Nova Scotia:
Mrs. Rita Baillie
Claudette D’Entremont
Newfoundland:
Gary and Barbara Boland
Donations of $1,000.00 or more:
Genzyme Canada Inc.
Barry and Betty Done
The BLG Foundation
Cambridge Golf Course
Mr. Robert Young
Fondation Melissa et Olivier Bilodeau
Maxwell Alexander Settari Memorial
Fund/Calgary Foundation
A Tribute to:
Matthew and Kerrin Bankert:
Daniel and Lois Young
Gregory Lipton
Gordon Laderman
Sidney Lipton
James Rosenthal
In Memory of:
Ivy Moore:
Daniel Bernaerdt
Frank and Verle Kaweski
Adrian and Carla Van Haaften
Isabella Babcock
Brian and Gloria Done
Darren and Leanne Bernaerdt
Lorie A. Whitmee
Robert and Averil Kennedy
Sandra Hyams
Mrs. Dora Hatton
Joan Maxwell
S. Harrison
Audrey Harrison
Georgia Thompson
Patricia Mitchell
Lillian Simpson
Jean McLeod
Mary Santone:
Lori and Rob Di Ilio
Nick and Maria Di Ilio
Nat and Andrea Di Ilio
Nick Dupley:
Frank and Verle Kaweski
Nicolo Sardo:
Steve and Martha Power
Keith Emary:
Kevin Almond
Terry and Diane Haines
Arnie and Dorothy Woodhouse
Ross and Sherry Davison
Dwayne and Cathy Almond
Bill and Barb Sadler
Reg and Doris Cann
Bill and Jennifer Pearson
Carolyn and Steve Brown
Don and Carrie Cowling
Janet and Keray Wonch
Jody Hodgkinson
Pee Wee rep players and parents
Thomas and Verna Wilcox
Larry and Barbara Cann
Jean Gillespie
Donna and Don Hodgkinson
Alison Pedwell
Lawson Cook and Linda, Amy and
Shawn Clarke
Pat and Dawn Ham
Nick Sotirakos:
Nick and Maria Di Ilio
Mr. and Mrs. Fortunato Pizzurro
Ashley (8/28/80-4/18/01) and
Lindsey Olsen
Esther Sherbanow Olsen
The Canadian MPS Society’s tribute card program is a special way of paying tribute to a friend or a loved one.
Send a MPS tribute card for any occasion as a meaningful gift to support children affected with MPS: to welcome a new baby,
to celebrate a birthday or anniversary, to memorialize the passing of a friend or relative or to say thank you to someone special. MPS tribute cards may be ordered by making a contribution of $10.00 or more. Contact the office with your request:
sympathy or tribute cards are sent out the same day and income tax receipts are issued when payment is received.
Page 10
Page The
10 Connection
Happy Birthday
Happy Birthday To You!
MARCH
Lucas Braun—March 7, 1997—MPS IV (Morquio)
Julianna Wallbank—March 9, 1994—MPS I (Hurler)
Andrew Lanese—March 10, 1997—MPS II (Hunter)
Carol Phelps—March 19, 1960—ML III
McKay Stiles—March 21, 2004—MPS I (Hurler)
Chelsea Durant—March 28, 2004—MPS I (Hurler)
Elisa Linton—March 31, 1994—MPS III (Sanfilippo)
APRIL
Rhys Boyd—April 30, 2001—MPS I (Hurler)
Trevor MacDonald—April 18, 1996—MPS I (Hurler)
David Paynter—April 21, 1984—MPS III (Sanfilippo)
Julian Duffy—April 6, 1994—MPS III (Sanfilippo A)
Emma Rose Grenon Le Maitre—April 5, 2002—MPS I (Hurler)
MAY
Kerrin Bankert—May 7, 1993—MPS III A (Sanfilippo A)
Sarah Anne Byrne—May 19, 2001—MPS I (Hurler)
Tamara DeBoey—May 18, 1977—Nieman Pick C
Nathan Linden—May 14, 1994—MPS III A (Sanfilippo A)
Dalvin Paynter—May 29, 1980—MPS III (Sanfilippo)
Mélissa Bilodeau—May 9, 1993—MPS III A (Morquio A)
JUNE
Jennifer Boland—June 2, 1977—MPS III (Sanfilippo)
Nicklas Harkins—June 23, 1995—MPS I (Hurler/Scheie)
We cannot print your child’s name on our Birthday list without your written consent to do so. If you would like your child’s name to appear on the Birthday list, please indicate on the current year’s Society membership form. We apologize if any names are inadvertently
missed. Just give us a call and we will make sure your child’s name appears in the next edition of the Connection. Happy Birthday!
Spring 2005
Page 11
Advocacy
This purpose of this new advocacy section is to keep Canadian MPS
Society members abreast of important issues involving patient access
to new treatments for MPS and related lysosomal storage disorders.
The articles appearing below are a mere sample of the many that
have appeared in the past few months surrounding the complexities
of funding treatments for rare genetic diseases. Please check our
website for additional articles of interest and forward to Kirsten any
articles you would like to share with our members.
A cure at what cost? The fight over
funding treatments for rare diseases
By Sutton Eaves
to hope that science will deliver good news soon. "They are
getting closer. I watch it all the time on the 'Net," said Mrs.
MacPherson. "They are definitely getting closer."
n Calgary, one man holds Mrs. MacPherson's hope in the
palm of his hand. Dr. Robin Casey gives two Pompe patients
infusions of an experimental enzyme replacement therapy
called Myozyme twice a month.
Several vials of this missing enzyme prevent the
buildup of glycogen in their muscles and attempt to reverse
the damage already done. "It's been quite significant in our
one patient," said Dr. Casey, a doctor of medical genetics at
the Alberta Children's Hospital. "I think, without this therapy, he would have died within a year or two."
The following article originally appeared in the November 23, 2004
edition of The Ottawa Citizen, and is reprinted with permission.
If this drug proves successful, it will be another instalment in the growing list of treatments emerging for rare
diseases.
At 18, Ian MacPherson worked part time at Taco Bell and
drove his father's oversized Buick. The oldest of his friends,
he was the one who picked them up on Friday nights to go
cruising for a party.
Developments in genetic therapy have given millions
of rare disease sufferers in Canada hope. Since the early
1990s, drugs have been discovered for conditions with such
obscure names as Gaucher, Fabry, MPS I and now, possibly,
Pompe.
During his last year of high school, the tall senior
caught a cold that, unchecked, turned into pneumonia.
When his parents rushed him to the emergency room, doctors discovered the fair-haired teen was in respiratory failure.
Weeks later, Ian emerged from hospital in an electric wheelchair. A tracheotomy tube jutted out below his
Adam's apple, connecting his lungs to a machine that
breathed for him. Hidden under his shirt, a gastrointestinal
tube ran out of his stomach.
It was the day his parents had been bracing themselves for since Ian was a toddler.
Gaucher, Fabry, MPS I, Pompe and and another
condition called Niemann Pick are all lysosomal storage diseases triggered by a missing enzyme in the body. Without the
proper enzyme to break them down, waste products like fat
build up in a patient's cells, causing the cells to stop functioning. Many of these patients will die early from heart, kidney
or respiratory failure when their organs shut down completely.
But at a yearly cost of $360,000 per patient, these
drugs have blindsided provincial governments, which must
decide whether to fund treatments never before available.
Tomorrow, a national drug review panel will release
Around the time he started walking, Kathy MacPhera precedent-setting recommendation on whether to list Fabry
son's first baby boy was diagnosed with a rare disease called
disease treatment on provincial formularies. These formularPompe.
ies dictate which drugs are paid for, in full or in part, by the
A vital enzyme in Ian's body was in dangerously
government. The recommendation will give some shape to
short supply. In its absence, glycogen -- a storage form of sugar the question of how governments plan to deal with the con-- built up in his muscles, particularly around his lungs and
flict between the cost and the cure for orphan disease pachest.
tients.
The carbohydrate consumed Ian's diaphragm, causBy definition, a rare or orphan disease affects fewer than one
ing it to atrophy and in turn, shut down his lungs.
in 20,000 people. It is estimated about three million people
Although it was hard to believe at the time, 18-yearold Ian was lucky.
in Canada suffer from rare diseases, most of which are linked
to genetic factors.
If they don't die during infancy, many Pompe patients will
succumb to respiratory failure.
Cystic fibrosis and multiple sclerosis are the poster
children of rare diseases, but at least 5,000 others have been
identified, such as Tay-Sachs and Dracunculosis.
Now 24, Ian could live on supports well into adulthood. But without a treatment to halt the takeover of glycogen in his body, he will always need the help of others, even
to lift his frail arms and put on deodorant. His mother clings
Page 12
Many of the treatments for these diseases are proteins or enzymes derived from the building blocks of lifegenes.
The Connection
Advocacy
Pharmacogenetics is the practice of tailoring treatments to an
individual patient's biological or genetic makeup. It is what
has allowed the advent of treatments for genetic diseases that
once perplexed doctors and drug-makers. "They are very exciting therapeutic advances and they are able to do things we
have never done before," said Dr. Michael West, professor of
nephrology at Dalhousie University. "Patients have benefited
tremendously from some of these things."
Pick disease, a neurodegenerative disorder that causes brain,
liver and spleen damage.
At the age of three, he was almost a quarter of the
way through his life. Most Niemann Pick sufferers will die by
their teens in the absence of treatment, Mrs. Moore said.
Despite hours spent scouring the Internet for information on her son's disease, Mrs. Moore didn't know that
Genzyme's scientists are in the early stages of developing a
Since the early '90s, companies have released a hand- treatment for Niemann Pick.
ful of new products for rare disease sufferers who previously
Enzyme therapy is at least four years down the road.
were neglected by the pharmaceutical industry. With so few
But it could mean a chance for a child who otherwise has
patients to buy the drugs, orphan disease treatments simply
weren't lucrative for most companies. But with the introduc- none.
tion of the Orphan Diseases Act in the United States, drug
"I was very sad for a very long time. I figured what's
companies that developed treatments for rare diseases were
the point of anything?" said Mrs. Moore. "But I'm starting to
afforded seven years' market exclusivity over their patents,
change. Maybe he does have a chance. Maybe he's going to
meaning they could set the price of their drugs without fear of beat the odds."
competition.
Mrs. Moore has one question before she gets excited:
Genzyme Corp. manufactures treatments for
Who is going to pay for her son's treatment if it makes it to
Gaucher, Fabry, MPS I and Pompe diseases. This year, it will market?
pour $195 million U.S. into rare disease research with the
goal of bringing more orphan drugs to market.
"(It) has gotten to the point now where we have the Boy needs expensive, life-saving drug
ability, through the level of understanding that we have of
By Paul Kuster and Michelle Schurman
science, to find treatments for these niche areas," said Genzyme Canada's president, Paul Drohan. He said the huge cost This piece aired on Global Calgary on Friday, February 11, 2005
of rare disease treatments is meant to recoup millions of dol- and is reprinted with permission.
lars of research required to bring the drugs to a very small
market.
A Calgary-area family is facing a drug dilemma. It's a story of
Analysts expect Fabrazyme to rack up more than
money, red tape and medical ethics.
$200 million U.S. in revenues this year.
"The business decision was that understanding basic
biology at the genetic level would be a major thrust of medical
care over the next 100 years," said Dr. Phil Wyatt, head geneticist at North York General Hospital in Toronto. "It appears that, if you were an investor in Genzyme, it was a wise
decision."
Nine-year-old Mackenzie Olsen is caught in the middle -- he needs an expensive drug to stay alive.
The boy is hooked up to a new treatment that helps
him fight a rare and deadly metabolic disease called HurlerScheie Syndrome. His body produces compounds it can't get
rid of. They accumulate to very high levels and destroy cells.
When Connie Moore met her future husband at the That leads to stiffening of joints, changes in bone structure,
age of 21, it wasn't love at first sight.
thickening of skin, enlargement of major organs, lung prob"Jeff had to win my love," she says, laughing. When lems, and eventually death. People with the disease usually
don't make it past their teens or early 20s.
they eventually wed, neither realized they each carried one
half of a deadly combination, couched surreptitiously in their
The disease hasn't yet affected Mackenzie's brain and
chromosomes.
spine. If it does, he could be paralyzed. Mackenzie was a test
"At 30, I decided, if we are going to do this, I better patient for a new enzyme replacement therapy that his family
says was effective. It's an expensive therapy -- $16,800 dollars
have children now. And I could write you a novel about
per week.
what's happened. It's unbelievable."
Their only son, Ryan, was born a month early,
weighing only three pounds. It took years to get him to a stable weight. By the time he started showing signs of improvement, the results were in. Ryan was diagnosed with Niemann
Spring 2005
Until now, that cost was being covered by the drug
company that makes the therapy. But after today, the study is
finished and the family will have to pay that cost. The family
says they don't have the money to pay. Without the therapy,
Page 13
Advocacy
they say his days are numbered. If he stops treatment, the
symptoms immediately get worse, and the effects are irreversible.
The family's healthcare falls under the First Nation's
branch of Health Canada. It says it can't cover the cost of
treatment because it's simply too expensive. Meanwhile, Alberta Health says it's caught in a catch-22 because the family's
health care falls under federal jurisdiction.
Another child in Alberta has this rare condition,
and in that case, the province is funding the drug. The child
is a baby and is part of a provincial study to see if early treatment can stop the disease in its tracks. Unfortunately in
Mackenzie's case, he needs enzyme replacement therapy on a
long-term basis.
Alberta is waiting for something called the Common Drug Review. It's a panel which recommends to provinces whether or not they should fund certain medications.
It's waiting for the panel's decision. But Mackenzie's doctor
is concerned that process will take far too long.
We will continue to keep our members apprised of
the CDR situation and will develop an action plan if
necessary to ensure treatment continues to be funded for
MPS I kids. Please contact Kirsten at the head office should
you have any questions regarding Aldurazyme® or visit
www.MPSIdisease.com. For complete guidelines and CDR
submission status of Aldurazyme®, visit www.cchota.ca
*Common Drug Review: Submission Guidelines for Manufacturers.
Fabry Disease: Enzyme Replacement
Therapy
Canada doesn't have what's called an "orphan drug
policy" -- a policy that ensures people with rare disorders receive life saving medications. About 40 other countries, including U.K., Australia, and the U.S., have orphan drug policies.
On November 24th, 2004 the Common Drug Review (CDR)
recommended that the provinces NOT fund enzyme replacement therapies for Fabry Disease. (To view the final CDR
report, please visit http://www.ccohta.ca/entry_e.html and
click on Fabrazyme and Replagal at the bottom of the web
page.) However, provincial health ministries can make independent funding decisions regardless of the CDR’s recommendations, and funding at the provincial level is still a possibility. For more information visit the Fabry Society’s website
at www.fabrysociety.org. .
Mackenzie's family is still fighting to save his life.
They say the treatment has given him the chance to be as
normal as possible.
Does The CDR Work?
Mackenzie's family is heading to Vancouver this
weekend to meet with the doctor heading the study -- to see if
he can help convince the drug company to give them a break.
Pharma companies are now submitting their formulary coverage requests to a central body but
variations across provinces remain; some ques-
MPS I: Enzyme Replacement Therapy
We are pleased to report that several Canadian MPS I children are receiving weekly Aldurazyme® enzyme replacement
therapy (ERT) infusions at various children’s hospitals across
the country. Currently, their treatments are being funded
either through clinical trials or the hospitals’ budgets.
On February 3, 2005, Aldurazyme® was submitted
to the Common Drug Review (CDR) for a “systematic review
of the available clinical evidence and a critique of
manufacturer-submitted pharmacoeconomic studies and
budget impact analyses”* with a non-binding funding
recommendation to drug plans anticipated in July. While we
disagree with Aldurazyme’s CDR submission for a number of
reasons, we are hopeful—despite the CDR’s negative funding
recommendation for Fabry disease ERT dugs—that it will
result in a positive funding recommendation and that
funding will continue for all Canadian MPS I children who
desperately need Aldurazyme® to live long and healthy lives.
Page 14
tion whether patients' access to new medicines
is being restricted
By Lynn Haley
This article originally appeared in the February 15, 2005 edition of
The Medical Post and is reprinted with permission.
VANCOUVER - Since September 2003, Canada has had a
centralized process to consider whether newly approved drugs
are worthy of formulary coverage, but physicians hoping for
greater uniformity among drug plans are unlikely to see dramatic changes.
That's because the country's patchwork of federal,
provincial and territorial drug subsidy plans remains in place,
with only the federal jurisdictions, such as Veterans' Affairs,
relying solely on the recommendations that result from
(continued on page 35)
The Connection
Family News
The Bilodeau Family—MPS IV
my wheel chair because readaptation [rehabilitation?] time
was extremely difficult. Because I had missed so many weeks
of school, I had to work very hard at home to catch up. The
A letter from Melissa
next year, I had another surgery in October 2001. Doctors
did a fusion of my cervical vertebrae, that is to say that they
Today I would like to tell you about my life and my disease. fuse the vertebrae in my neck while adding some pieces of
Many people ask me about what I have so I will try to make my bone from my hip in order to avoid paralysis. As a result
you understand what I go through. I must first tell you that of this operation, I had to wear a special device called a Halo.
my life is very different [from] of the majority of the kids of
I had to go to school with it and I can say that everything
my age.
went smoothly because I was respected by my mates and everyone was protecting me because it was imperative that I did
I was born on May 9th of 1993 and was a healthy
baby bursting with energy. At nine months, my mother men- not fall. Even if this instrument was very impressive, it wastioned to our family doctor that I had a little vertebra which n’t painful.
was coming out in the middle of my back. It’s [was] at that
Finally, in March 2003, I had to undergo a very
time that everything began.
important surgery which started in the morning at nine
A few days later, I was admitted at St-Justin’s Hospi- o’clock to end only at four thirty pm. Ouf! The surgeon
tal. Doctors ran many tests on me to eliminate more than a took one of my fibs that he placed in my back. He also retired [?] my fibula (the bone behind my tibia) which he
hundred possibilities but they did not find anything.
placed in my back as well and he finished by screwing two
A couple of years after, my mother gave birth to my
long metal rods. I had to lie down for three months at the
brother Olivier. I was still doing fine and was practicing
hospital and had a private teacher who was assigned to me.
ballet. When my young brother got [was] nine months, my
Since then, I am capable [able] to walk a bit more.
mother noticed the same little vertebra which was coming
I gave interviews during two telethons for research
out of his back. She consequently went to see genetic specialists for him and me but again, they couldn’t identify any- on childhood diseases as well as for Enfant-Soliel’s telethon. I
participated in CHOM, MIX 96’s radiothon and for another
thing wrong.
station which wished to amass $300,000.00 but successfully
My physical condition started to degrade when I
collected the amount of $1,300,000.00 in only three days.
reached the age of five. My mother decided to go to a differMy brother and I will soon be honoured for all of our efforts
ent hospital to seek the advice of another doctor and ended
by being appointed ambassadors at the Miracle Network.
up at the Montreal children’s hospital They were the one
This nomination should help us to make the government
who came up with the [diagnosis] of Morquio’s syndrome IV
more aware of the importance of research on rare diseases
A, an overload [storage] disease due to the lack of an enzyme.
and their treatments. [Our life story has been covered by
It was a huge [shock] for my parents.
multiple newspapers and magazines which of these can easily
be consulted if desired.]
I wish I succeeded in making you understand the good
fortune that you benefit by being healthy. You really
have to deeply appreciate it and preciously take care of
it because it is our most valuable wealth.
Even if its cost is enormous, my strongest dream
would be to receive a very promising experimental treatment
that the government has first to approve of.
Over the years, my disease continues to progress.
The summer before my second year of elementary school (I
was seven years old), I went through two very suffering hip
surgeries. I received many blood transfusions and was immobilized in an enormous cast for six weeks, having to lie down
without being able to sit. After those long weeks, I received
that you benefit by being healthy. You
really have to deeply appreciate it and
preciously take care of it because it is our
most valuable wealth.
In order to enjoy life fully and forget a bit about our
suffering, our doctor submitted out names to an organization
named “Children’s Dreams.” Thanks to them, we went to
There are approximately 300 persons who suffer
“Walt Disney World” in 2001 and my brother asked for a
from this particular disease in the whole world. There was
therapeutic spa to relax his tensions. WE really appreciated
no one in both my family’s parents who had this problem.
My parents were carriers of this gene but didn’t know it. It is those opportunities which allowed us to have fun.
a case of what is called the genetic lottery, which means one
I wish [hope] I succeeded in
chance over millions of people.
making you understand the good fortune
Spring 2005
-Melissa Bilodeau
Page 15
Family News
Champion Team—Brother and sister
very hard at home,” explains Mélissa.
The year after, in October of 2001, she underwent
another major surgery involving her neck and hip bones. She
had to wear an apparatus called the ‘Halo’. The halo is a
Syndrome
medical device used for restricting motion of the skull and
cervical spine. It immobilizes the cervical spine area to promote fracture healing, without eliminating overall patient
By Giulia Santillo, Montreal Children’s Hospital Foundation
mobility. She even attended school wearing the device. “The
whole school helped and respected me and even protected
me from falling, because I could not fall,” expresses Mélissa.
To have a sick child is a difficult reality to contend with, to
have two sick children, ill from the same disease, is an even
unimaginable and harsher reality to deal with. For the Bilodeau’s from Quebec, this soon became their reality. A journey of disbelief, emotions, faith and hope awaited them,
demonstrating the true strength that children have.
battle rare genetic disorder: Morquio
Mélissa Bilodeau was born a healthy and exuberant
baby girl. There were no signs of anything medically wrong
with her until she was about 9 months old. The mother,
Geneviève, noticed a small vertebra protruding from the middle of her back quickly prompting her to visit the doctor.
Soon after, Melissa was admitted to a hospital where many
tests were performed. To the parents’ relief, the results
showed that nothing was wrong. Melissa continued to grow
and involved herself in many activities including ballet.
Years later, the Bilodeau’s decided to have another
child, and baby Olivier was born soon after. At around 9
Mélissa and Olivier Bilodeau (MPS IV)
months, the mother noticed the same vertebra sticking out of
Olivier’s back as his sister had. Upon consulting with a geFinally, her last surgery came in 2003, an important
netic counselor at the hospital, both sister and brother reone
that
lasted
for more than seven hours. The surgery was
ceived a clean bill of health.
to repair her back and involved placing metal rods and bones
When Mélissa approached 5 years of age her health from other parts of her body. She had 3 months convalesbegan to deteriorate. The mother then decided to change
cence at the hospital and had tutors assist her with her studhospitals and transferred to the Montreal Children’s Hospi- ies. Since that surgery, her walking has improved slightly, but
tal. Once there, both children were diagnosed with having
she still uses her wheelchair to get around. A person who has
Morquio Syndrome, a rare genetic disorder from the family
contributed to their survival, Dr. François Fassier, Director of
of Mucopolysaccharide disorders, also known as MPS IV.
Pediatric Orthopedics, McGill University, expresses, “I simEach MPS disease is caused by the deficiency of a specific
ply try to make these kids’ lives more comfortable and livable.
enzyme. It results in affecting appearance, development and Until a cure is found, they are the true heroes who endure
the function of various organs of the body and bone
the surgeries and rehabilitation and face their lifelong battle
deficiencies. The news came to a complete shock to the
of courage, determination and spirit.”
parents, as they were unaware they were both carriers of the
Mélissa now 11 and Olivier, 9, have not let their
gene and because their family history did not show any
disorder
slow
them down. They are very active and rambuncevidence of the illness. With only about 300 cases of people
tious
children.
Mélissa will begin high school next year and
diagnosed worldwide with Morquio Syndrome, it was a
has
done
very
well.
She enjoys every subject, and has been
‘genetic lottery’ that the Bilodeau’s lost. Lost, but not
taking
piano
lessons
for the past 5 years. Olivier has not
defeated.
been walking for about a year now and also uses a wheelBy the age of seven, Mélissa received two major sur- chair. He is a joker and loves to laugh. He is expected to
geries to her hips that she describes as ‘very painful’. She also receive his first surgery very soon. The father, Frédéric, calls
had to endure many blood transfusions and had to wear a
his children ‘fighters’; “when I am feeling low, I know that
large cast for 6 weeks keeping her bed ridden. After the six
one of them will pick up my spirits,” explains Frédéric Biloweeks, she received her wheelchair and entered rehabilitadeau.
tion. “I missed many months of school and I had to work
Page 16
The Connection
Family News
Part of the mission for these extraordinary kids throughout
their experience with Morquio Syndrome has been to educate
others about their disease. As a result they have participated
in many events to help people understand the disorder and
what they have gone through. Several newspapers and magazines have published their story, and they have taken part in
two telethons, and also two Radiothons. Their efforts have
been recognized and awarded by recently being crowned the
Children’s Miracle Network Champion Children for Quebec.
As ambassadors for the Montreal Children’s Hospital, Opération Enfant Soleil and CMN they will travel to Ottawa, Canada and Orlando, Florida to share their experiences. With
this new title, they hope to be able to tell even more people
about the importance of research on rare diseases and their
treatments.
relief for many of the children and parents affected by MPSI.
We mailed a lot of the letters we got at the conference to George Smitherman, Minister of Health and LongTerm Care, complete with signatures and addresses. I hoe
this helps. We mailed them all separately. Hopefully Mr.
Smitherman will get some every day and be constantly reminded that many people believe it is important to five these
children immediate attention. I can only imagine the sigh of
you know, there’s school tomorrow!
October 1st was a great day at Secord School. (Read
more about Secord School’s Canadian MPS Jeans Day on
page 32.) Daniel and I have just returned froma 3 day excursion to Sheldon, an outdoor education programme offered to
many of the students as part of their educational learning
experience. If any of your children are offered this or anything similar, I encourage you to jump at the opportunity. It
is so wonderful. The learning experience goes much deeper
than anything you could learn in the classroom. Some created a special friendship with kids they would never normally
play with in the school yard. And the memories will last a
lifetime.
I was wondering if anyone could fill me in on how
Melissa and Olivier’s dream is for leaders to approve the trial is going for enzyme replacement therapy in Hunter
experimental treatments so that they could eventually receive children. Unfortunately, Daniel did not qualify, because he
them, providing them with hope and maybe even a cure.
was unable to complete the pulmonary function test. Which
I am terribly upset about and have lost all respect for the techMelissa and Olivier have a message they would like
nician at Sick Kids performing the test. Daniel and I had a
to share with everyone. They wish people understand that
being healthy is a great treasure that is to be cherished, appre- long chat before the test, and he understood how important it
was that he co-operate. I only wish I had the same chat with
ciated and taken care of.
the technician, maybe then we wouldn’t have been just a
number and she wouldn’t have had the attitude: “You don’t
The Duffy Family, MPS II
know how? Sorry I can’t help you. NEXT!” Several months
later we had an appointment at Bloorview/McMillan which
required a pulmonary function test. This technician underHello MPS Friends and Families,
stood kids. She simply put a line of candles across the screen,
I hope all is well, and everyone was successful in getting the
told Daniel to take a deep breath and blow them all out.
children settled into another school year. I’ve been lucky, Mr. What a difference a visual made. The pulmonary function
Allan is Daniel’s teacher, and although every year it’s a battle test was complete. It was too late for Daniel to be apart of the
to go back, this year was slightly different. He was actually
trials because they had already begun. So congratulations to
excited. Mr. Allan is very good with the kids, and because
everyone who qualified—hope all are doing well. If anyone
belonging is part of the curriculum, it’s no wonder class 204 knows the answers to these questions could they please let me
rocks!
know.
Thank you Lori for inviting us to the conference.
1.
Is the trial in phase 3?
You did an amazing job—everything was perfect. My sister,
2.
When will phase 3 be over?
my kids and I all had a great time. It’s wonderful to hear
3.
Is phase 3 the last phase before approval?
about the exciting progress so many are making in the medical field. Our kids are very fortunate to have such a dedicated 4.
How long do you think this will take?
team on their side. Simon Ibell’s inspirational speech was just
(Editor’s note: Please see the clinical research trial update on page
that– not only did he raise a lot of money for MPS, the publicity and public awareness he has created is something we’re 21 for information on the MPS II trial.)
all very proud of. WAY TO GO SIMON!
Well it’s getting late, and I should head off to bed, because as
Spring 2005
Have a great day.
Talk to you soon,
Leona Duffy
Page 17
Up-coming Conferences & Events:
Up-coming conferences & events:
April 14, 2005 – The Sanfilippo Children’s Research Foundation’s Evening for Elisa, Toronto, ON.
You can log onto www.eparent.com and view a recorded presentation of the following web seminars:
Please visit www.alifeforelisa.org for event information.
“Pediatric Disabilities in the Lysosomal Storage Disorders
April 23-25, 2005—24th International Congress of PediatPompe Disease & MPS I.” This web series was presented by:
rics, Hilton Head, NC.
Debra-Lynn Day-Salvatore, MD, PhD
Director, Institute for Genetic Medicine
May 7, 2005 – The 2005 MPS CUP Fantasy Hockey Game
St Peter's University Hospital, New Brunswick, NJ
and Gala, Vancouver, BC.
Priya Kishnani, MD
Get in the game at The Canadian MPS Society’s largest fundAssociate Professor of Pediatrics
raiser of the year, and help kids raise their arms in victory over
Duke University Medical Center, Durham, NC
MPS! Please visit www.mpscup.ca for complete event informaJoseph Muenzer, MD, PhD
tion and updates, as well as ideas on how you can join our
Associate Professor of Pediatrics & Genetics
winning team even if you aren’t in Vancouver.
Department of Pediatrics
University of North Carolina at Chapel Hill, NC
Moderator:
Alan Percy, MD
Director, Clinical Neuroscience
Civitan International Research Center
University of Alabama at Birmingham School of Medicine
This seminar is for: Physicians (primarily pediatricians) and
other allied healthcare professionals: nurses; OTs & PTs. Of
course, families and caregivers are invited to attend. CME and
2005
CEU credits will be offered, free of charge, to healthcare professionals.
May 7-10, 2005—European Human Genetics Congress
(EHGC), Prague, Czech Republic.
These sessions cover Pompe Disease and MPS I.
In the first session, presenters provide an overview of Pompe
and MPS I including an overview of clinical manifestations,
suspicious symptoms, diagnostic methods, disabilities faced in
the pediatric period, and treatments. The second session includes a discussion on newer treatments for the pediatric patient and how a multi-disciplinary team of specialists such as
physicians, geneticists, physical therapists, surgical team,
speech therapists, nurses, respiratory therapist, nutritionists,
etc. might interact with other professionals and families to
provide comprehensive care.
May 14-16, 2005—American Society Pediatrics Hematology
Oncology, Washington, DC. www.aspho.org
Friday, July 1 – Sunday, July 3, 2005 — The Society for Mucopolysaccharide Diseases (UK) Annual National Conference, Hilton Hotel Northampton, UK. www.mpssociety.org
October 25-29, 2005—American Society of Human Genetics
For each session, there is approximately one hour of presenta- (ASHG) Annual Meeting, Salt Lake City, UT.
tions, and another hour of Question & Answers (Q&A).
http://www.ashg.org/genetics/ashg/ashgmenu.htm
To view the recorded seminars, please visit
http://www.eparent.com/web_seminar_lyso/
November 10-15, 2005—National Society of Genetic CounThese web seminars are brought to you by EP Foundation,
sellors (NSGC) Short Course and Annual Conference, Los
Child Neurology Foundation, American Academy of Develop- Angeles, CA. http://www.nsgc.org/schedule.asp
mental Medicine and Dentistry, and The National MPS Society, and are partially underwritten by an educational grant
Please email information on your upcoming conference or event to
from Genzyme.
kirsten@mpssociety.ca.
Page 18
The Connection
Research Grants
MPS REGISTRIES and
WEBSITES:
The MPS I Registry: A resource is now available for
your physician or health care professional that is dedicated
to improving the understanding of MPS I. With the MPS I
Registry , your physician can access your data and compare it
to aggregate data from around the world. Ask your physician to call 1-800-745-4447, ext. 17021 for more information.
The MPS VI Registry: The Women’s and Children’s Hospital in Adelaide, Australia is pleased to announce its participation in a web site registry dedicated to
individuals affected with MPS VI (Maroteaux-Lamy Syndrome). To enroll yourself or your child in the MPS VI
registry, go to www.mpsvi.org/Registry/mpshome.cfm.
New Websites:
www.MPSIdisease.com. This website has been developed
to provide parents and patients with information and resources on MPS I.
www.Aldurazyme.com. This website has been developed to
provide parents and patients with information on
Aldurazyme.
www.lysosomallearning.com. Lysosomallearning.com is a
Genzyme-supported online resource dedicated to raising
awareness of lysosomal storage disorders (LSDs). Genzyme
selected Avenue A/Razorfish to develop lysosomallearning.com as an educational tool for health care professionals,
patients and families dealing with an LSD disease. The site
utilizes a series of images, information and support resources
to target key visitors with varying degrees of knowledge
about the diseases. For example, the Health Care Professionals segment features a disease management overview targeted
at doctors, while the Support Center offers an extensive list
of patient societies and regional healthcare providers experienced in the treatment of LSDs.
Spring 2005
The Canadian MPS Society’s
Research Grants:
Program Announcement: The
Canadian Society for Mucopolysaccha-
ride (MPS) & Related Diseases Inc.’s
2005 Summer Studentship
Research Grants.
The Canadian Society for Mucopolysaccharide (MPS) & Related Diseases Inc. is once again making available a limited
number of Summer Studentship Research Grants for medical
students and university undergraduates. It is our hope that
these opportunities may result in more individuals being attracted to research careers involving lysosomal storage disorders.
The studentships are tenable at any university centre
in Canada, and there is no limit on the number of studentships tenable at any given medical centre. Successful candidates will be chosen by the Society’s Medical Advisory Board
on the basis of information provided in the official application form enclosed. Successful candidates will be expected to
spend at least 12 weeks working on their projects, and must
submit a formal written report summarizing the results of
their research when complete. Grants of $4,000.00 will be
payable directly to successful candidates: Students will receive
initial payments of $2,000.00 and will receive an additional
$2,000.00 upon research completion and report submission.
For a copy of The Canadian Society for Mucopolysaccharide
& Related Diseases Inc.’s Summer Studentship Grant application form, please contact Kirsten at (604)924-5130, 1-800667-1846, or kirsten@mpssociety.ca. The deadline for application submission has been extended to March 31, 2005.
NORD/Roscoe Brady Lysosomal
Storage Diseases Fellowships Program:
A one-year fellowship with the possibility of year-two funding
in the amount of $50,000.00 to $70,000.00 per year is being
made available through the NORD/Roscoe Brady LSD Fellowships Program. Application and full proposal due April
13, 2005. http://www.rarediseases.org.
Page 19
Research Updates
The Canadian MPS Society’s
Research Grants:
MPS I Research at Dr. Lorne Clarke’s UBC
Research Lab:
Last spring, The Canadian MPS Society was pleased to award
Dr. Lorne Clarke and his research team at the University of
British Columbia a research grant in the amount of
$35,000.00 to support research into the pathophysiology of
MPS I. We are happy to announce that we have continued to
support Dr. Clarke’s team’s research with an additional
$30,000.00 grant this spring. A full report will be published
in the Connection upon completion of this research project.
Mucopolysaccharidosis I (MPS I) is the most common of the generalized mucopolysaccharidoses and is considered the “prototypical” storage disease. Accordingly,
advances in the understanding of the pathogenesis of this
disease and factors that play a role in the progression of
MPS I, will likely be applicable to other MPS disorders.
Clinical trials of direct enzyme replacement are currently underway and various MPS I animal models are available. While
these developments hold great promise for those affected with
MPS I, it is clear that many of the basic molecular/pathophysiological changes involved in the progression of
MPS I and related disorders, remain to be elucidated. Further understanding of these factors will be necessary in order
to develop methods to accurately measure: the progression of
disease, appropriate dosing and effectiveness of enzyme replacement and the identification of other possible therapeutic
approaches that may need to be explored. Dr. Clarke’s team
has shown that the targeted disruption of the murine α-Liduronidase gene (IDUA) leads to a set of physiological responses in the mouse that closely resembles human MPS I
and propose to use this model to study the molecular pathophysiology of MPS I (Russell et al. 1998).
Dr. Clarke and his team of researchers are using
micro array analysis and isotope-coded affinity tag (ICAT)
proteomics to investigate the pathogenesis of MPS I utilizing
the murine MPS I model.
Ultimately their hope is to identify serum biomarkers of disease that may be useful in the evaluation of
disease progression and response to therapy in children with
MPS I. In addition, their more exploratory approach will lead
to identification of other factors that may underlie the pathophysiology of MPS diseases. ICAT analysis of both immunoPage 20
competent and immunocompromised MPS I mice will represent one of the first applications of this type of proteomic
analysis to a mouse model of disease.
Lysosomal Storage Disease Research
Consortium (LSDRC):
The Canadian MPS Society is proud to be a member of the
LSD Research Consortium (LSDRC), which has partnered
with the American National Institute of Neurological Disorders and Stroke (NINDS) for the purpose of a jointly sponsored program to provide funding towards preclinical or
translational research specifically addressing the neurological
aspects of LSDs. On July 2, 2004, a Program Announcement
(PA) was released by the NINDS soliciting applications for
funding for research “focused on improving central nervous
system (CNS) treatment outcomes, enhancing the effectiveness of delivery and targeting of cells, enzymes, drugs and
genes into the brain.”*, with the expectation that grants will
be funded early this year. A total of approximately
$1,050,000.00 US in grants will be available from the NINDS
and the Office of Rare Diseases (ORD). Applications not
funded by the NINDS will be turned over to our group for
consideration for funding within our funding capabilities.
Several applications have been received by the NINDS: the
review process is underway and the LSDRC is currently establishing a grant review committee.
The Canadian MPS Society contributed $10,000.00
US toward this consortium: a total of $310,000.00 US has
been contributed by the following American organizations:
the National MPS Society, the National Tay Sachs and Allied
Diseases Association, the Sanfilippo Syndrome Medical Research Foundation, Hunter’s Hope Foundation, and the National Neimann-Pick Disease Foundation. The LSDRC will
be represented by a three member Executive Committee consisting of Barbara Wedehase (ED of National MPS Society),
Jayne Gershkowitz (ED of National Tay Sachs and Allied Diseases), and Sissi Langford (Chair of Committee on Federal
Legislation, National MPS Society). We are excited to be a
part of this collaboration and will update you as the grants are
funded. For more information on the LSDRC, please visit
www.lsdresearch.org. To read the complete Program Announcement, visit Http://grants.nih.gov/grants/guide/pafiles/PAS-04-120.html
*CENTRAL NERVOUS SYSTEM THERAPY DEVELOPMENT FOR LYSOSOMAL STORAGE DISORDERS (PAS—
04-120) Lysosomal Storage Disease Research Consortium(LSDRC), National Institue of Neurological Disorders
and Stroke (NINDS), Office of Rare Diseases (ORD)
The Connection
Research updates
Clinical Trials:
Marketing Application for rhASB for MPS VI
PDUFA Date Set for May 31, 2005
NOVATO, Calif., Feb. 1 /PRNewswire-FirstCall/ -- BioMarin
Pharmaceutical Inc. (Nasdaq and SWX: BMRN) today announced that the U.S. Food and Drug Administration (FDA)
In the second quarter of 2003, BioMarin and joint venture
partner, Genzyme Corporation, received U.S. Food and Drug has accepted for filing and assigned six-month review to the
Administration (FDA) and European Commission (EC) mar- Biologics License Application (BLA) for rhASB (galsulfase),
the company's investigational enzyme replacement therapy for
keting approval for Aldurazyme for the treatment of MPS I.
Subsequently, Aldurazyme was approved in Norway, Iceland, the treatment of mucopolysaccharidosis VI (MPS VI). The
Israel, the Czech Republic, Australia, and Canada. Applica- FDA will take action on the application, under the Prescription Drug User Fee Act (PDUFA), by May 31, 2005.
tions are currently pending in several other countries.*
A six-month review is typically granted to drugs that,
For more information, please visit www.aldurazyme.com
if approved, would be a significant improvement in the safety
*Taken from www.biomarinpharm.com. Aldurazyme was
or effectiveness of the treatment, diagnosis, or prevention of a
licensed by Health Canada on May 41, 2004.
serious or life-threatening disease. The FDA previously
granted rhASB orphan drug designation, a designation conAfter the successful conclusion of a study in MPS I dogs to
ferred upon investigational products for diseases that affect
treat the brain with intrathecal ERT, Biomarin will be confewer 200,000 patients in the United States. Products with
ducting clinical trials involving intrathecal use of ERT for
orphan drug designation that are the first to be approved for a
MPS I children and adults during the next year.
specific indication have seven years market exclusivity within
the United States.
MPS I:
MPS II:
TKT successfully completed a Phase I/II study of I2S for the
treatment of MPS II and is currently conducting a large pivotal Phase III clinical trial with hopes to submit applications
for marketing approval in the second half of 2005. TKT is
also conducting pre-clinical trials in the hopes of directly administering enzyme into the central nervous systems of MPS
II patients and hopes to conduct a trial in late 2005.
For more information visit
http://www.tktx.com/patient/hunter.htm
Editor’s note: TKT will be conducting a dosing trial for I2S and is
looking for MPS II patients over 18 years to participate. Please
contact Kirsten at the head office or Leanne Torri, RN at
ltorrie@tktx.com or (617) 613-4499, for more information.
MPS III:
Hospital for Sick Children, Toronto: Dr. Joe Clarke is conducting a controlled study of the effect of oral D-glucosamine
hydrochloride on behaviour in MPS III.
If their trial to administer enzyme directly into the CNS of
MPS II patients is successful, TKT is hoping to move their
MPS III-A program forward.
MPS VI:
FDA Accepts and Grants Six-Month Review for BioMarin's
Spring 2005
About rhASB
rhASB is an investigational enzyme replacement therapy designed to address the underlying enzyme deficiency associated
with MPS VI. If approved, rhASB could become the first drug
therapy for the treatment of MPS VI.
About MPS VI
MPS VI, also known as Maroteaux-Lamy Syndrome, is an
inherited debilitating, life-threatening disease which affects
approximately 1,100 people worldwide. MPS VI is caused by
the deficiency of N-acetylgalactosamine 4-sulfatase
(arylsulfatase B), a lysosomal enzyme normally required for
the breakdown of certain complex carbohydrates known as
glycosaminoglycans (GAGs). This enzyme deficiency leads to
the accumulation of GAGs in the lysosomes of cells, giving
rise to progressive cellular, tissue and organ system dysfunction. Debilitating symptoms can include impaired cardiac and
pulmonary function, delayed physical development, skeletal
and joint deformities, impaired vision and hearing, sleep apnea, and reduced endurance. The majority of people with
MPS VI die from disease-related complications between childhood and early adulthood.
For more information visit www.biomarinpharm.com.
MPS VII:
Dr. Emil Kakkis and William Sly have received a grant to
develop enzyme replacement therapy for MPS VII. Good
progress is being made in production development. At this
time there is no timeline for a human clinical trial.
Page 21
Medical Matters—Obstructive Sleep Apnoea
Obstructive Sleep Apnoea in Children
with Mucopolysaccharidoses
By Dr. Margot Davey, Director, Melbourne Children’s Sleep
Unit, Monash Medical Centre, Royal Children’s Hospital.
This presentation was delivered at the 2004 Australian MPS Society’s conference in Melbourne and is reprinted with permission.
Conditions that can affect breathing directly such as kyphoscoliosis (backward and lateral curvature of the spine) can lead
to a small rib cage and decreased lung capacity. Breathing is
further exacerbated by deposition of mucopolysaccharides in
the lungs which cause diffusion problems, along with thick
secretions which may lead to frequent respiratory tract infections.
Obstructive sleep apnoea consequences
Growth failure
Risk factors for Obstructive Sleep Apnoea (OSA)
in children with MPS
•
Poor growth may be due to low caloric intake caused
by low appetite and difficulty swallowing, increased
energy expenditure and an abnormal release of growth
hormone.
Obstructive Sleep Apnoea (OSA) can be defined as a
“disorder of breathing during sleep characterized by prolonged
partial upper airway obstruction and/or intermittent complete
obstruction (obstructive apnoea) that disrupts normal ventila- Cardiac
tion during sleep and normal sleep patterns” OSA is the most •
Pulmonary hypertension. High blood pressure in the
common airway problem of patients with MPS.
arteries that supply the lungs is called pulmonary hypertension (PHT). Patients with PHT become tired,
Obstruction of the upper airway in children with
dizzy and short of breath. Medical intervention is necMPS is caused by a combination of factors including large
essary.
tonsils, adenoids and tongue, an abnormal trachea (windpipe)
•
and decreased rib movement with breathing.
Right heart failure. Heart failure occurs with increasing size of the heart caused by the heart straining to
provide enough oxygen in the blood by working
harder.
Upper airway narrowing is caused by a deposition of
glycosaminoglycans/mucopolysaccharides in the soft tissues
such as tonsils, adenoids, tongue and surrounding soft tissues.
Abnormal cartilage along the respiratory tract may contribute •
Systemic hypertension
to increased floppiness and predisposition to breathing diffiNeurologic
culties. Any conditions that alter the cross sectional area of
Neurocognitive abnormalities. Neurobehavioural conthe pharynx contribute to the occurrence of OSA, so children •
sequences are thought to be due to hypoxaemia
with abnormal vertebrae (short necks), or small mandibles
(insufficient oxygen in the blood) and sleep fragmenta(jaw bones) are at risk.
tion. Problems can occur with excessive daytime sleepiIn children with MPS the chest can be more rigid so
ness, poor school performance, impairment in memory
it can’t move as freely to allow the lungs to take in large voland attention.
umes of air. The muscle at the base of the chest (diaphragm)
Behaviour problems. Most common behavioural abcan be pushed upwards by an enlarged liver and spleen further •
normalities include hyperactivity, antisocial behaviour
compromising expansion of the lungs.
and disciplinary problems.
Night time symptoms
Daytime symptoms
•
Loud snoring most nights
•
Tired on waking
•
•
•
•
•
•
Pauses to breathing (apnoeas)
Laboured or difficult breathing
Gasping or choking noises
Restless, sweaty sleepers
Mouth breathing, thirsty
Night time wakings
•
•
•
Excessive daytime sleepiness
Daytime behaviour (grumpy and irritable)
Difficulties with concentration and learning
Page 22
The Connection
Medical Matters—Obstructive Sleep Apnoea
Obstructive sleep apnoea: examination
2.
Respiratory patterns
•
Growth: either failure to thrive or obesity
•
Ventilation (oxygen and CO2)
•
Mouth breathing
•
Obstruction to breathing (complete or partial)
•
Nasal patency, septum, turbinates
•
Work of breathing
•
Tongue, pharynx, palate, uvula (the pendent fleshy
lobe in the middle of the posterior border of the soft
palate), tonsils
Management of Obstructive Sleep Apnoea
•
Pectus excavatum, also called funnel chest or funnel
breast, is a depression of the anterior wall of the chest
produced by a sinking in of the sternum
•
Right Ventricular Hypertrophy (RVH), pulmonary
hypertension
•
Adenotonsillectomy – Removal of tonsils and adenoids.
Children with MPS can have increased problems undergoing
adenotonsillectomy because of stiff and/or unstable cervical
spine; short neck and stiff jaw; increased secretions
Some risk factors are involved with an adenotonsillectomy;
•
Haemorrahage (1-3%), respiratory distress, velophayrngeal incompetence, stricture
Central nervous system (CNS) including tone, developmental status
•
Anaesthetic complications
•
Mortality estimated 1/16,000 – 1/35,000
Alternative screening studies
Night time Ventilation - Nocturnal ventilation.
Sometimes home audio/video, overnight oximetry may
•
CPAP – continuous positive airway pressure
be useful
•
BiPAP – bilevel positive airway pressure
Analysis of Polysomnography/ Sleep Study
•
1.
Sleep patterns
•
Sleep architecture
•
Frequency of arousals
Both CPAP and BiPAP open the airway using air pressure.CPAP therapy involves the delivery of room air to a patients’ airway to keep it open. Via a mask, room air is delivered at a constant low pressure throughout the breathing cycle
and that splints open the upper airway.
A sleep study involves:
•
attaching tiny sensors called electrodes to various parts of the child’s body to monitor brain waves, muscle movements,
eye movements, breathing through the mouth and nose, snoring, heart rate, and leg movements (see below Sleep study
measures);
•
movement bands around the child’s chest and abdomen to measure breathing effort (see below Sleep study measures);
•
oximeters to monitor oxygen levels in the blood (see below Sleep study measures).
A camera is used to videotape sleep. This is useful in the detection of any movement abnormalities occasioned during sleep.
Sleep study measures:
•
EEG – electroencephalogramAbdominal and chest movement
•
EOG – electrooculogram
Pulse oximetry
•
EMG – electromyogram
Expired Carbon dioxide (CO2)
•
ECG – electrocardiogram
Transcutaneous CO2
•
Nasal and oral airflow
Video monitoring
It is often difficult to assess whether a child just has noisy breathing or has noisy breathing along with significant airway obstruction. A sleep study is a non-invasive way of assessing the airway status.
Spring 2005
Page 23
Medical Matters–Obstructive Sleep Apnoea
CPAP is generally safe and well tolerated. Side effects are
mostly minor. They can however result in patient discomfort
that may effect compliance so they should be managed aggressively.
Prenatal And Preimplantation Genetic
Diagnosis For MPS And ML
Side effects include:
By Donna Bernstein, MS, Amy Fisher, MS, and
Nasal symptoms such as dryness, congestion, rhinorrhea,
Joyce Fox, MD
epistaxis. Use of a humidifier, nasal steroids and saline drops
may address these problems.
•
•
Skin ulceration, facial dermatitis. Check mask fit and
protective dressings may prove useful.
Reprinted with permission from the National MPS Society, US.
Conjunctivitis and eye irritation can be managed with the
correct mask fit.
Families who are concerned about passing on genetic conditions to their children have several options. Two of those
options are using prenatal diagnosis and preimplantation
genetic diagnosis. Prenatal diagnosis is a method of testing a
pregnancy to learn if it is affected with a genetic condition.
Preimplantation genetic diagnosis, also called PGD, is a
newer technology used to test a fertilized embryo before a
pregnancy is established, utilizing in vitro fertilization (IVF).
Both methods provide additional reproductive options to
parents who are concerned about having a child with a genetic condition.
BiPAP
•
Different pressures for inspiration and expiration
•
Higher pressure for inspiration
•
Some patients find it more comfortable
•
Additional improvement in ventilation
There are two types of prenatal diagnosis; one is
called amniocentesis, and the other is called CVS (chorionic
A tracheostomy is a surgically created airway in the neck that villus sampling). Amniocentesis is usually performed between
bypasses upper airway structures. A tracheostomy tube main- the fifteenth and eighteenth weeks of pregnancy. Amniocentains the patency of the hole/stoma and allows attachments of tesis involves inserting a fine needle into the uterus through
ventilators. The tracheal incision is made at the level of the 2- the mother's abdomen and extracting a few tablespoons of
5 tracheal rings
amniotic fluid. Skin cells from the fetus are found in the
amniotic fluid. These cells contain DNA, which can be tested
to see if the fetus carries the same alterations in the genes
Obstructive Sleep Apnoea in MPS – Detection
(called mutations) that cause a genetic condition in an affected family member. If the specific mutation in the affected
and Treatment
individual is unknown, it is possible to test the enzyme activ•
Be aware of OSA symptoms
ity in the cells of the fetus. Although these methods are effec•
Sleep studies are a non-invasive way of diagnosing and
tive at determining whether a pregnancy is affected or not,
monitoring an MPS patient
they do not generally give information regarding the severity
or the course of the condition. Additionally, although amnio•
Surgery may be required at some stage
centesis is considered safe and is performed under ultrasound
•
Non-invasive ventilation such as the CPAP/BiPAP
guidance so the doctor can see the fetus at all times, it is still
machines is useful in providing a constant flow of air
an invasive procedure. Therefore, there is a risk of infection,
during sleep to overcome the obstruction when chilor membrane rupture, which can lead to miscarriage. It is
dren are asleep.
estimated that approximately one in every 200 to 500 amnioDr Margot Davey is a paediatrician who specialises in the diagnosis centesis procedures results in pregnancy loss.
and management of paediatric sleep disorders. She is the Director of
Another method of prenatal diagnosis is called
the Sleep Clinic based in the Centre for Community Child Health at
chorionic villus sampling, or CVS. With CVS, a small
the Royal Children’s Hospital. She is a member of the Melbourne
amount of the placental tissue is extracted, either through the
Children’s Sleep Unit at Monash Medical Centre where she consults
vagina, or through the abdomen. The cells of this tissue are
and also reports sleep studies performed in the 4 bed paediatric sleep
tested for DNA mutations or for enzyme activity (similarly to
laboratory which services Victoria and Tasmania. She also consults
amniocentesis.) The advantage of CVS is that it can be perat the Epworth Sleep Centre.
formed earlier than amniocentesis, i.e., .in the tenth week of
pregnancy.
Tracheostomy
Page 24
The Connection
Medical Matters-Prenatal Genetic Diagnosis
The disadvantage is that the pregnancy loss rate is about one explore these options and their implications on an individual,
in a hundred, somewhat higher than that of amniocentesis. case-by-case basis.
There is generally less experience with CVS than with amniocentesis for diagnosing MPS conditions in a pregnancy, and
many diagnostic laboratories will only perform the prenatal
test for MPS on cells obtained through an amniocentesis.
People choose to have amniocentesis or CVS for a
variety of reasons. Some people are anxious about a pregnancy and have prenatal testing for reassurance, others just
want to eliminate the uncertainty and know the eventual outcome immediately. Some people want to know in advance in
order to have time to prepare for their situation others choose
to have prenatal testing so they can decide whether or not to
terminate a pregnancy that is affected with a genetic condition. Preimplantation genetic diagnosis (PGD) tests the embryo before a pregnancy is established. Unlike amniocentesis
or CVS, one must know the DNA mutations to pursue PGD.
MPS SURVEY:
The Canadian MPS Society and Genzyme are collaborating
on an MPS patient survey to better understand MPS diseases
in Canada. We want to know what led you to go see your
doctor, what kinds of physicians you saw, who ultimately
diagnosed you (or your child), and how long this process
took.
The survey results will be used to design educational
programs for the medical community as well as the general
In vitro fertilization (IVF), a method of public. The information you supply could be the key to helpplacing sperm and eggs together in a petri dish, is used in ing others get the medical attention they need in a more
PGD. Sometimes a method called ICSI (intracytoplasmic timely and efficient manner.
sperm injection) is used to establish fertilization instead of
The survey should take approximately 15-30 minIVF. ICSI is similar to IVF except the sperm is injected diutes
to
complete.
Survey responses are anonymous and conrectly into the egg. After fertilization takes place under either
fidential
and
will
be
grouped with those of other individuals
method, the fertilized egg undergoes cell divisionAt the eightwith
MPS.
cell stage, one or two cells are removed and tested for the genetic condition. At this early stage removing one or two cells
We are planning to include the patient surveys with
does not affect the development of the embryo. After the this newsletter. Please take the time to fill out your survey as
embryos are tested, only the embryos that are unaffected are your responses will be extremely helpful.
implanted into the mother's womb. Usually several eggs are
The National MPS Society and Genzyme colfertilized when performing PGD in order to increase the likelilaboarated
on a similar survey in 2003, and presented their
hood of having an unaffected embryo that can be successfully
data
at
recent
American Academy of Pediatrics meeting. For
implanted.
the results of the American survey, please visit
One of the main advantages of PGD over prenatal http://www.mpssociety.org/lib-survey.html
diagnosis is that genetic testing is performed before the embryo is implanted in the womb. This eliminates the need to
decide whether or not to terminate an affected pregnancy.
Therefore, couples who are not comfortable with terminating
a pregnancy may prefer using PGD to avoid having an affected
child. However, PGD is expensive and is not always covered
by insurance. Further, even at the best reproductive medical
centers, the success rate is only approximately 30% per cycle.
That means that it may take three attemps or more before
achieving a successful pregnancy that goes to term. Also, the
process of IVF or ICSI requires fertility drugs, monitoring,
and surgical procedures to retrieve the eggs and to implant the
embryos. However, PGD does offer parents the option of
having an unaffected pregnancy without facing the issue of
terminating a pregnancy.
The decision to have prenatal diagnosis or preimplantation genetic diagnosis is both complex and personal.
An appointment with a genetic counselor is recommended to
Spring 2005
Page 25
MPS Day
National MPS Day in the USA
On Wednesday, Feb 16, 2005 the U.S.
Senate passed a unanimous resolution,
officially making February 25 National
MPS Awareness Day in the United
States. The day will be set aside annually to remember those who have lost
their battles and those who struggle daily with MPS and ML.
The Canadian MPS Society would like to join the US National MPS Society by declaring February 25 National MPS
Awareness Day in Canada, as a way of honouring those in the
MPS and related diseases community: to recognize, remember
and rejoice in each other. As in the US, we will be encouraging members to acknowledge National MPS Awareness Day in
whatever way is meaningful to them and their families. Here
are some ideas:
-Remember all the children and adults who suffer from MPS
and related disorders.
-Think about the children we have lost.
-Think about the doctors and scientists who are dedicated to
finding a cure for MPS and related diseases.
-Remember each other and be thankful for the strength and
support we both give and receive.
On February 25, the National MPS Society opened
the NASDAQ Stock Market to celebrate the first official National MPS Awareness Day.
A Canadian Experience—The Nelis-
Dupont Family Celebrates MPS Day
Dear Kirsten,
Here is the letter I sent to Barb about the way we spent our
MPS Day. Hope everything is well with you and your family
and I would like to see our own Canadian MPS Day next year
on the 25 of February. Let me know if I can help make it happen.
Our family decided to wear a blue ribbon on our
wrist for the day, to remind us of our MPS friends and their
children.
I think this is the first time that I have actually sat
down and really thought about all that has happened to our
family, and the progress we have made since Monika was diagnosed with MPS 1. ( July 2003 )
The learning about MPS and accepting that this was
a life long battle was the first step, and a very overwhelming
one it was. All the tests that Monika had to go through, you
realize the strength of these children and their families, then
fighting for a year to actually get the medication was the second step, then APPROVAL of Aldurazyme May 31 2004 - her
first infusion was June 10 2004.
The Hospital agreeing to pay for it was our third battle, and now as of February 18 the Quebec Government has
agreed to reimburse the Montreal Children's Hospital for
"We're thrilled to be part of the NASDAQ opening
and to officially recognize National MPS Day, which gives our Monika's medication which they did in Sept. 2004 for the
affected families another opportunity to spread the word and other 7 year old in Sherbrook, Quebec. So I guess persistence
celebrate their children's lives," said Barbara Wedehase, execu- does pay off in the long run.
tive director of the National MPS Society.
Monika took 20 blue ribbons to school on Friday, to
As the original sponsor of the resolution, U.S. Sena- share with her kindergarten class. She said it was a great day
tor Lindsey Graham, R-South Carolina, said, "It is a parent's
and came home with a praise note from the principal for being
role to make sacrifices for their child; yet, for the parents of a so great on the P.A. and announcing to everyone in school
child diagnosed with MPS, the sacrifices are exceptional. I
that it was National MPS Day. I am so very proud of her, she
have had the opportunity to meet with a number of parents of has opened my eyes and my heart to a whole other world.
MPS children. These parents exhibit amazing hope, love, grace
Mary & family
and humor that can often mask the many trials they undergo
in caring for their children. My staff and I are constantly impressed at their ability to advance their cause while also selfPS: I told you that I was working on getting the Quebec Govlessly caring for their children."
ernment to fund Aldurazyme for Monika. Well I guess Mr.
Couillard does have a soft spot after all. After receiving my
last letter on Feb 11, I gave him till the 18th to respond to me
Watch for additional information about Canada’s National
or to Dr. Melancon, and he did, and has told the Hospital that
MPS Awareness Day in upcoming editions of the Connection.
Additional information on the American National MPS Soci- his office would reimburse all cost for Monika's infusions. So
now both patients in Quebec have their Aldurazyme treatety and National MPS Awareness Day is available online at
ments covered by the provincial health Minister, the only
http://www.mpssociety.org.
thing is we do not have this in writing we only have his word,
but the Hospital seems to be O.K. with that.
Page 26
The Connection
Fundraising
Sadie Hawkins’ Day Bingo Bowl
Winnipeg, MB
Please find enclosed our donation cheque in the amount of
$1894.00 payable to the MPS Society.
This money was raised by holding an MPS Fundraiser—Sadie Hawkins’ Day Bingo Bowl on Saturday, November 13th, 2004 at the Village Inn Bowl and Cue, 479 Westwood Drive, Winnipeg. The attendees bowled and played
pool all night.
The Calgary Foundation/The Maxwell
Alexander Settari Memorial Fund
Calgary, AB
Dear Ms. Harkins,
The Calgary Foundation is pleased to enclose our cheque in
the amount of $1,322.00 from the Maxwell Alexander Settari
Memorial Fund. This grant is to support the respite care for
afflicted families of MPS children.
The Calgary Foundation continues to be committed
We had a great turn-out and a good number of men to helping build the Charitable Sector in Calgary and area. It
wore their Sadie Hawkins’ Corsages. The winners were pre- is important to make citizens aware of their role in building
sented with prizes for their efforts.
the community and to that end we request recognition of
Many thanks to the Village Inn Bowl and Cue and The Calgary Foundation and the Maxwell Alexander Settari
Fund according to your donor recognition practices. We
of course our great children, friends and relatives who made
encourage you to provide us with stories and pictures of your
donations for the silent auction, purchased tickets as well as
work in the community so that we may share these with our
silent auction and loonie tree tickets.
donors in our various publications.
Because we were unsure if we would have enough
On behalf of the board and staff of The Calgary
Foundation we wish you continued success in your important
silent auction prizes, Alice and her sister Thelma made 60
dozen pierogies, 2 or 3 dozen to be given out with each silent work.
Best regards,
auction prize.
Heather Hankins-Bruce
Love and prayers to all,
Donor Stewardship Associate
Alice and Jim Taylor (Grandparents of Jordana Kilgour, born The Calgary Foundation
Calgary, AB
9/26/97)
BLG Foundation
Toronto, ON
Dear Kirsten,
I am very pleased to be able to forward to you a cheque in the sum of
$2,000.00 from the BLG Foundation.
This organization is the charitable wing of the national law firm of Borden Ladner Gervais. My good friend
and former classmate Bob Love is a partner at the Toronto
office and he suggested that we apply to this fund for our
worthwhile cause.
I wasn’t sure what amount we would receive, but
was thrilled to receive such a sizable contribution. Special
thanks to Bob for his assistance and to the BLG Foundation
for recognizing our worthy cause. I’ll make sure to apply
again next year!!
Judy Byrne
Spring 2005
The Melissa and Olivier Bilodeau
Foundation
Laval, QC
Hello,
Enclosed in this card is a check for $1907.80. We are closing
the Mélissa and Olivier Foundation and we would like for
you to have the money that we will not be using.
Please accept it as our support for research on
Morquio Syndrome.
Good luck with the MPS Society and may you help
find a cure!
Famille Bilodeau
Please read Mélissa Bilodeau’s poignant letter to the Society on page
15 and the inspirational article on the Bilodeau “Champion Team”
on page 16. The Canadian MPS Society gratefully acknowledges
the financial support of the Mélissa and Olivier Bilodeau Foundation and looks forward to funding Morquio research with the goal
of ultimately finding a cure for the Bilodeau children and others
suffering with MPS IV.
Page 27
Fundraising-A Special Walk for Special Children
The Nelis-Dupont Family’s Walk with
Nature
Bedford, QC
On November 14, 2004, 105 people from Bedford, Quebec
participated in the Nelis-Dupont family’s first 4km “Walk
With Nature” to raise money for the Canadian MPS Society
and the Genetic Department at Montreal Children’s Hospital.
After a scenic walk through Bedford’s new “Keith
Sornberger Nature Trail Park,” participants gathered at James
F. Davidson Hall for refreshments. Presentations were given
on MPS diseases and on Montreal Children’s Hospital (by
Dr. Serge Melancon, Montreal Children’s Hospital and
Daniel Messier, Bedford pharmacist) and on the role of the
Canadian MPS Society (by Mary Nelis, Canadian MPS Society
board member and event coordinator).
Due to the strong support received from the Bedford
community, $1,600.00 was raised, and was split between the
two benefiting charities. Furthermore, those in attendance
were educated on MPS diseases and the importance of our
Society.
Many thanks to all who helped make this event such
a wonderful success, particularly St. James Anglican Church
for donating the hall for the reception, The Metro Supermarket for donating the food and beverages, the walk’s police
escort Pierre Benoit (and the fire fighter escort who brought
up the rear), and the event’s photographer Mr. Renaud.
Thanks, also, to MP Denis Paradis, as well as those from the
Montreal Children’s genetic team, for attending this special
event.
The Nelis-Dupont family and the Canadian MPS
Society gratefully acknowledge the generosity of the following
sponsors and donors:
Nature Trail Park (above)
and holding cheques for
•
Essaim Drug Store
the Canadian MPS Society
•
Korvette
and Montreal Children’s
•
Pizzeria
Hospital at Montreal
•
Rona
Children’s Hospital following
•
Euro Spa
carpal tunnel surgery.
•
Cordonery
(left)
•
France Lacost
Monika Nelis collecting flowers at
Keith Sornberger
Page 28
The Connection
Fundraising-A Special Walk for Special Children
The Nelis-Dupont family and friends prepare to take “A Special Walk for Special Children”...
...and “Walk With Nature” through Keith Sornberger Nature Trail Park for the Canadian MPS Society.
Spring 2005
Page 29
Fundraising-Canadian MPS Jeans Days
Canadian MPS Jeans Day at Saint
Alexander Catholic School
Fonthill, ON
Dear Kirsten,
Hope things are well! Sorry it took me so long to write to you.
Last time we spoke, we talked about how well Andrew and
Bradley have adjusted to their new school (St. Alexander). It’s
hard to believe that half of the school year is over.
I’m so delighted that the staff of St. Alexander
School participated in the “Canadian MPS Jeans Day” fundraising. It’s wonderful when your community can reach out
and lend a helping hand to such a great cause. A big round of
applause to the staff of St. Alexander School—BRAVO!
On behalf of Nick and I, thank you for your generosity and very caring attitude towards Andrew. Keep up the
good work and I’m sure Andrew will keep on smiling. God
bless our MPS kids!
Sincerely,
Sonia Lanese
Andrew Lanese—Grade 2—Fall 2004 (MPS II)
Judy Wiebe (teacher representative), Andrew, his brother Bradley,
and Karie Ippolito (Andrew's Educational Assistant).
Page 30
The Connection
Fundraising– Canadian MPS Jeans Days
Dear Kirsten Harkins,
Jill DeMars
Andrew Lanese is a student in Grade Two at Saint Alexander
Catholic School in Fonthill, Ontario. Andrew has been diagnosed with Hunter’s Syndrome requires intense onen on
one assistance. He is happy, active, and very social. Since his
arrival to our school in September 2004, he has filled our
halls and classrooms with much joy and love.
Sandra Letouorneau
Andrew’s smile brightens students, staff and parents
on a daily basis. It takes Andrew a great deal of time to get
from one place to another in our school. It’s not because of
any physical problem, but simply because students and adults
alike stop to say hello! Andrew loves being around his peers
and teachers. He brings out the best in people. His brother
Bradley, in Grade One, has a similar personality.
We are fortunate to have Andrew as a part of our
school community are are thankful for all that he has taught
us.
Our teaching community eagerly accepted the opportunity to donate a part of the weekly Dress-down Denim
Day money to such a great cause.
Our teaching staff and support staff are happy to
present $510.00 toward MPS. I am thankful to the Professional Learning Community at Saint Alexander Catholic
School for its commitment to Andrew and MPS.
Lori Spadafora
John Boon
Dave DeProphetis
Kara Eller
Patrick Wigglesworth
Frank Mercuri
Jen DeCoff
Christina Fiore-Jones
Laura Shayka
Irene Volpe-Timpano
Amy Dowd
Karen Blaznski
Gloria Correia
Brenda Hicks
Karie Ippoliti
Virginia Mattlazzo
Sincerely,
Mr. D. Stunt
Principa
Thank you to the staff from Saint Alexander Catholic
School who participate in weekly “Dress Down Days”:
Dean Stunt
Chris Zanuttini
Lisa Campagne
Kristi Doros
Jurale McCann
Judy Gatcliffe-Wiebe
Julia Marchio
Adelina Bellantino
Michelle Gaspari
Penny Bartok
Lorena Blouin
Marie Balanowski
Bradley and Andrew Lanese (MPS II)
Spring 2005
Page 31
Fundraising - Canadian MPS Jeans Days
Canadian MPS Jeans Day at Secord Dress Down Day at Spruce Lodge
Elementary School
Senior Citizens’ Residence
Toronto, ON
Stratford, ON
October 1st was a great day at Secord School. The staff participated in Jeans Day and some of the challenges they so
thoughtfully came up with were:
Dear the Canadian MPS Society,
1.
To pay $5.00 for a sticker instead of $1.00.
2.
Mr. Fraser offered to wear his denim shorts for $4.00
and not to wear them for $5.00. As hot as it was that
day I suspect he had more $5.00 offers than $4.00.
Thank you, Mr. Fraser. Your heart was in the right
place.
3.
A special thank you to Mr. Morrison who offered to
pay $1.00 to MPS for every student wearing jeans that
day.
Enclosed, please find a cheque in the amount of $58.00. This
donation from staff “Dress Down Days” is for the month of
November. Each month, any staff members who participate
in “Dress Down Days” have their names entered in a draw for
a chance to have the charitable receipt issued in their name.
This month’s winning employee is Bertha Harbin.
Please feel free to contact me if you have any questions.
Sincerely,
Jennifer Facey
Administrative Assistant
Because of their pleasant approach, Secord staff raised an
incredible $175.50 for MPS.
-Submitted by Leona Duffy
Daniel Duffy and friends from Secord School.
Page 32
The Connection
Fundraising
On-going Fundraisers:
Craft Fair for MPS Kids:
Sobeys Store Tapes Program
A message for all our crafty members: Next fall, Jean Linden
is planning to have a table at one of Prince George’s craft
fairs with all proceeds going to the Society, and will need
items to sell.
Family, friends and neighbours: please save your grocery
receipts from Sobeys. For every $500.00 in grocery receipts,
the Society will receive $1.00.
Please send tapes to:
Betty Ann Perry
15 Lawsone Ave.
Riverview, N.B. E1B 3R1
Please send items to:
Jean Linden
2161 Norwood St.
Prince George, BC, V2L 1Y1.
More Great MPS Fundraising Ideas:
Here are some great fundraising ideas obtained from The
National MPS Society’s newsletter, Courage:
•
Sign up through your United Way Donor Choice
Program. Designate The Canadian MPS Society as your
“OTHER” choice by providing our name, address and
Charity # 129030409 RR0001. Double your support by
enrolling the Society in matching gift programs, available
through many companies.
•
Organize a walk or run
Families, friends and neighbours, please continue to save
your grocery receipts from Dominion, A&P and Save-ACentre. For every $450.00 spent at each store, $1.00 will be
donated to the Society. Thank you for your recent contributions.
•
Have a garage sale
•
Organize a Sports Tournament
•
Participate in Craft Sales
•
Organize a Jeans Day
Please send tapes to:
•
Host a party: i.e. Pampered Chef, Discovery Toys,
Partylite.
Dominion , A & P and Save-a-Center
Store Tapes Program
Paula Spiers
636 Amberwood Crescent
Pickering, ON L1V 3T9
Used Stamps:
Please send your used stamps to:
Remember, when you sponsor a fundraiser you are not only
raising money to help find a cure but you’re also educating
the public about MPS.
Edna Kidd
Fundraising Reminders:
Box 447
•
Mayerthorpe, AB T0E 1N0
TIPS ON MAILING STAMPS: Please trim stamps leaving
1/4 inch of paper around the stamp; any with tape or
damaged perforations you can discard as they can’t be sold
nor the tape removed. Thanks for your continued support!
Spring 2005
Contact Kirsten and request an event proposal form.
Fill out and send in the form so that the head office
knows the details regarding events your are holding.
Don’t forget to submit a brief article for the Connection about
your fundraising success stories and suggestions-they are terrific resources for other families planning events.
Page 33
Fundraising
Fantasy Hockey Game and Gala
Saturday, May 7—Vancouver, BC
www.mpscup.ca
Join Nicklas, Brad May and other hockey heroes.
Are you missing the Stanley Cup Playoffs? Get cup-crazy
instead over the 2005 MPS CUP! Play for the love of the
game with your hockey heroes and help kids raise their
arms in victory over MPS!
Game time:
Gala dinner:
2:00 PM at the North Shore Winter Club
How you can participate:
1325 E Keith Rd, North Vancouver, BC
•
Play in the game or attend the game and/or
gala.
•
Spread the news to your Vancouver friends.
•
Donate an item to the auction—forms can be
downloaded at www.mpscup.ca.
6:00 PM at the Sutton Place Hotel
845 Burrard Street, Vancouver, BC
Player tickets: $500.00—includes a spot on one of the
teams and a ticket to the gala.
Gala tickets:
Game only:
Make a donation in honour of the event.
$125.00—includes admission to the game. •
Call (604)924-5130 for tickets or other information.
Admission to game only is by donation.
We gratefully acknowledge our sponsors:
Platinum:
Gold: The Destination Slope & Surf Outfitters, Vancouver Sharp
Imaging, The Dynamics, Lyle S. Grant Digitally Assisted Design
Silver: Dollarton Esso, BC Hockey Now, North Shore Winter Club
Carter Chevrolet/Oldsmobile/Chevy Truck, Infinet
Page 34
The Connection
Advocacy-Does the CDR Work?
(continued from page 14)
comes."
the Common Drug Review (CDR). Quebec does not even
participate in the process, which is run out of the Canadian
Co-ordinating Office for Health Technology Assessment
(CCOHTA) in Ottawa.
Dr. Laupacis said he is confident the provinces will
benefit from the CDR's centralized approach with its focus on
cost-effectiveness. If a new drug works as well as a cheaper
drug in its class, CEDAC is unlikely to recommend funding
it.
The CDR replaces a system in which drug manufacturers would submit separate formulary coverage requests to
almost 20 drug plans across the country. Now, they make one
submission to the CCOHTA, which assigns reviewers to consider the clinical utility and cost-effectiveness of the drug. The
end product is a recommendation for or against coverage
from the Canadian Expert Drug Advisory Committee
(CEDAC), an 11-member panel of physicians, pharmacists
and researchers. Each of the drug benefit plans that participates in the CDR makes its formulary listing decisions based
on the CEDAC recommendation and the plan's own mandate, priorities and resources. (For more on the process, see
"A Quick Guide.")
Opponents
Understandably, the pharmaceutical industry is not entirely
happy with the process.
In an e-mail interview, Jacques Lefebvre, spokesman
for Canada's Research-Based Pharmaceutical Companies
(Rx&D), said the industry appreciates the need for a more
efficient way of determining coverage, but added Canadian
patients are being denied new drug treatments as a result, and
questioned whether the process is in the public interest.
"The industry is concerned that CDR has developed
a process which restricts Canadian patients' access to new
"What we strive for is a consistent review with a high medicines further. The main challenge related to the CDR
degree of rigour of all the literature possible," said Barb Shea, has been . . . that patients are faced with waiting longer for a
vice-president of the CDR. "What we don't know yet-because new medicine than they did under the old province-byprovince review model. . . . As it is now, CDR has increased
it's still a new process-is what decisions are made afterward.
duplication and created more delays for patients."
But what we do want to see is good, strong evidence."
He also pointed out manufacturers can appeal CEIndeed, a glance at CEDAC's decisions, which are posted at
DAC's
decisions,
but the same committee also considers the
www. ccohta.ca, shows the committee members are no pushappeal.
"Not
surprisingly,
so far all requests for reconsideraovers. Of the 18 medications reviewed as of Feb. 4, CEDAC
tion
have
been
turned
down."
recommended against formulary coverage in 11 cases, including the osteoporosis drug teriparatide (Forteo) and the enDr. James Wright, managing director of the Therazyme replacement therapies agalsidase alfa (Replagal) and agal- peutics Initiative, which provides the B.C. government with
sidase beta (Fabrazyme) for Fabry disease.
evidence-based reviews of new drugs, said the onus is on pharmaceutical firms to provide solid evidence if they want their
The latter treatments cost around $250,000 a year,
drugs to be funded.
but there are fewer than 300 Canadians with Fabry disease,
which causes chronic pain and damages the heart, kidneys
"We need more trials: large, simple trials," said Dr.
and other organs.
Wright. "The things that we do know, we know because of
CEDAC chairman Dr. Andreas Laupacis, a general large, simple trials that are using the drug the same way. The
contrived trials are mostly done by drug companies and are
internist at Sunnybrook and Women's College Health Scidesigned purely to show what they need to get a drug through
ences Centre, and president and CEO of the Institute for
Clinical Evaluative Sciences in Toronto, said the decision to (the approval process). If you have a large trial, say of a large
population of normal people treated for hypertension, and it
recommend against funding the enzyme replacements was
shows diuretics are the best drugs, that's the kind of trials we
tough, but reasonable.
need. Those trials aren't that hard to do, and they need to be
"Precisely because there are so few patients, it is abso- funded."
lutely mandatory that the drug companies and the clinicians
Dr. Laupacis said he would like to see all unpubwho look after these patients do the best possible studies so
lished
data
for the drugs being evaluated made publicly availwe know what impact these drugs have on clinically imporable,
which
is currently not the case. "At CEDAC, we are altant evidence," he said.
lowed to look at unpublished data, but the company has the
"With Fabry's disease, there is no question the drugs right under the current procedure to ask us not to mention it.
affect the enzyme that is abnormal, but unfortunately our
This could be why occasionally, our recommendations are
reading of the literature was that the studies had not followed different from what clinicians might think when they read the
patients long enough to be able to determine whether that
published literature."
histological benefit translated into clinically important outSpring 2005
Page 35
CANADIAN MPS JEANS DAYS
Help bring awareness of MPS Diseases into your community!
Jeans Days are Easy as 1,2,3…
1. Pay $1.00 and receive a Canadian MPS Jeans Day sticker and pamphlet
2. Place your sticker on your shirt
Be a friend to
MPS Kids
3. Enjoy the privilege of wearing comfy casual clothes and feel good about
helping out MPS Kids!
This year’s designated date is October 14, 2005, but
remember, any day can be a Canadian MPS Jeans Day!
Canadian MPS Jeans Day Packages Include:
•
A letter requesting businesses or schools hold a Jeans Day
•
Jeans Day stickers in the shape of a jean pocket
•
An 11 X 17 colour poster and a colourful brochure
Call the office at 1-800-667-1846 or email Kirsten at kirsten@mpssociety.ca
to receive your package. Thanks for getting involved!
Kick-back Week-end Wear!
The Society now has promotional embroidered sweatshirts, t-shirts, and jean
shirts featuring the Society’s name and
logo.
MPS Society Logo Wear
•
Indigo Sweatshirts
$30.00
•
Jean Shirts
$30.00
•
Indigo T-shirts
$20.00
•
Children’s t-shirts
$15.00
Plus $2.50 for shipping & handling
Page 36
The Connection
The Canadian Society for Mucopolysaccharide & Related Diseases Inc.
Membership Form 2005
First/Last Names: _________________________________________________________________________________
Address: _______________________________________________________________________________________
City: __________________________________ Province: _________________ Postal Code: __________________
Telephone: ________________________________ E-mail: ______________________________________________
Affected Family:
Relative/Professional/Other:
Out of Country:
______$25.00
______$30.00
______$35.00
AFFECTED CHILD’S NAME(S) AND
Enclosed membership payment:
Enclosed donation:
Total:
DATE OF BIRTH
MEMORIAL DATE
$ ________
$ ________
$ ________
SEX
SIBLINGS’ NAMES
DIAGNOSIS/
MPS DISORDER
Would you like your name to appear in our Parent Referral Directory? Yes ______
No ______ Initial consent:__________
Would you like to have your affected child’s name appear on the Birthday/Memorial page? Yes ______ No ______
If so, please fill in all information in the above chart, as you would like it to appear.
I am willing to allow the Society to publish pictures of my living/deceased child(ren) for posters, advertising, booklets, brochures,
and the MPS website. Yes ______ No ______ (Please send/email clear photos. We will return photos if requested.)
Signed:______________________________________________ Date:_____________________
Please send information on MPS Diseases to the following professionals:
Name:_______________________________________________________________
Address:_____________________________________________________________
IF YOU HAVE AN AFFECTED CHILD AND CANNOT AFFORD THE $25.00 MEMBERSHIP FEE,
PLEASE INFORM THE OFFICE AND WE WILL SEND YOU COMPLIMENTARY NEWSLETTERS.
The Canadian MPS Society is committed to providing support to fami- Please make cheques payable to:
lies affected with MPS and related diseases, educating medical profesTHE CANADIAN MPS SOCIETY
sionals and the general public about MPS, and funding research so
that one day cures will be found for all types of MPS and related disPO Box 30034, RPO Parkgate
eases. Members will receive:
•
•
•
•
•
•
•
Four newsletters per year (Spring, Summer, Fall, Winter)
Our Family Referral Directory
Our Annual Report
Access to our Family Assistance Program
Advocacy support
All new publications printed by the Society
Invitations to attend family meetings and conferences
Spring 2005
North Vancouver, BC V7H 2Y8
If you would prefer to pay for your membership with VISA,
MASTERCARD, OR AMERICAN EXPRESS, please call the
office at (604) 924-5130 or 1-800-667-1846. You can also now register or donate on-line using your PayPal account at www.mpssociety.ca.
Registered Charity # 12903 0409 RR0001
Page 37
The Canadian Society for Mucopolysaccharide & Related Diseases Inc.
FAMILY ASSISTANCE PROGRAM APPLICATION
(All information will be kept in the strictest confidence)
Name: _____________________________________
Date: __________________
Address:____________________________________
City:____________________ ____________
Province: ________________________________
Postal Code:__________________________
Phone Number: _____________________
Name(s) of affected child/children: ______________________________________________________
Disease affecting the child/children: _____________________________________________________
Amount being applied for: _____________________________________________________________
Please explain what the funds would be used for: ___________________________________________
___________________________________________________________________________________
___________________________________________________________________________________
___________________________________________________________________________________
Is this project/cost part of a bigger project (for example: applying for partial costs of renovating a house,
partial costs for making a vehicle accessible): yes
no
If yes, whom else have you approached for funding:__________________________________________
____________________________________________________________________________________
____________________________________________________________________________________
Receipts/quotes/estimates attached:
yes
no
(Receipts must include supplier’s
name, address, GST tax number, detail of item/service provided, and cost.)
__________________________________
(Signature of applicant)
Please mail your application to:
________________________
(Date)
The Canadian MPS Society
PO Box 30034, RPO Parkgate, North Vancouver, BC V7H 2Y8
•
•
•
Page 38
The Executive-Director or a member of the current Board of Directors will be in touch with you as soon as possible,
after receiving and reviewing your application, to inform you of the Board’s decision regarding your application.
Only members in good standing are eligible for funds from the Family Assistance Program (referred to as the F.A.P.)
The definition of “good standing” is:
membership dues are up to date and paid
membership in the Canadian Society for Mucopolysaccharide and Related Diseases Inc. has been
for at least six months.
the member is active within the Society (participation in fund-raising, newsletter contributions,
raising public awareness of MPS and related diseases, etc.)
The Connection
The Canadian MPS Society’s Publications
NAME OF BOOKLET
NUMBER
PRICE
TOTAL
OF COPIES
PER COPY
PRICE
Family Resource Booklet - English or French*
4.00
Hurler, Scheie Diseases - English or French *
2.00
Hunter Syndrome
2.00
Sanfilippo Syndrome
2.00
Morquio Syndrome
2.00
Maroteaux-Lamy Syndrome
1.00
Mucolipidosis II & III I-Cell Disease
1.00
Fucosidosis
1.00
Mannosidosis
1.00
Aspartyl glucosaminuria
1.00
Mucolipidosis IV
1.00
Multiple Sulfphatase Deficiency
1.00
Tay-sachs & Sandhoff Disease
1.00
Hearing impairment in MPS Children
1.00
Is your child Having an Anaesthetic
1.00
Bone Marrow Transplants in MPS Children
1.00
Choices – When your child is Dying English or
French*
7.00
*All booklet are in English with the exception of the Family Resource Booklet, Hurler Booklet & Choices* *Please circle language.
PLEASE ADD $2.50 FOR SHIPPING For 10 or more booklets add $4.00
Name: __________________________________________________________________________________________________________
Address: _________________________________________________________________________________________________________
City:
____________________________Province: ___________ Postal Code:_______________
Telephone: (_____)
_________________
# of Booklets: _________________
Shipping & Handling: _________________
Send your order and cheque to:
The Canadian MPS Society
PO Box 30034
RPO Parkgate
North Vancouver, BC V7H 2Y8
For payment by credit card, please call our
head office at (604) 924-5130 or 1-800-6671846.
Spring 2005
Page 39
S
MPS Society Logo Wear
•
Indigo Sweatshirts
$30.00
•
Jean Shirts
$30.00
•
Indigo T-shirts
$20.00
•
Children’s t-shirts
$15.00
M
L
XL
Plus $2.50 for shipping per item & handling
Total Enclosed__________
Page 39
We would like to acknowledge Brad
Mills at Mills Printing & Stationery in
Vancouver, BC for generously donating the first run of all our new stationery,
and for printing these newsletters at a
discounted rate. Thanks, Brad!
Mills Stationery & Printing
www.mpscup.ca
(604) 254-7211
Join our winning team at the 2005 MPS
CUP Fantasy Hockey Game and Gala—
May 7 in Vancouver, BC—and help kids
raise their arms in victory over MPS!
www.mills.ca
A HEART-FELT THANKS TO AMJ CAMPBELL VAN LINES
FOR MOVING THE SOCIETY TO NORTH VANCOUVER
FROM UNIONVILLE FREE OF CHARGE
and for realizing that the money saved will go a long way toward our
Society’s being able to achieve its goals of
supporting families affected with MPS and related diseases,
educating medical professionals and the general public about MPS, and
funding research so that one day cures will be found for all types of MPS.
AMJ Campbell Van Lines
Canada’s Largest Coast to Coast Moving Company
1-888-AMJ-MOVE (265-6683) www.amjcampbell.com
PO Box 30034, RPO Parkgate
North Vancouver, BC V7H 2Y8
Tel (604) 924-5130
Fax (504) 924-5131
1-800-667-1846
Registered Charity # 12903 0409 RR0001
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www.mpssociety.ca
The Connection