Fall 2012 - Neurofibromatosis Northeast

NEWS
NEUROFIBROMATOSIS, NORTHEAST
Volume 24, No. 1
Promoting Research, Awareness and Advocacy since 1988
Driven to finding a Cure: The Feeney Family
Like many, the Feeney family first became
aware of neurofibromatosis when their son,
Ryan, was diagnosed with it at four months
old. Since then not only are they well versed
on NF but they have put the disease on the
radar of their multitude of family and friends.
While an infant, Ryan had severe bowing of
his right tibia. Later multiple café au lait spots
appeared on his body. The two symptoms
led doctors to the NF1 diagnosis. At six
months, a fitted brace was placed on Ryan’s
Shawn and Jill Feeney with their son Ryan tibia to help with the bowing. It proved to be
a short term solution. Three months later, the
bone fractured. The leg was placed in a cast, and a telescopic rod was inserted through his tibia to help strengthen the bone. When no gains were
made the decision was made to amputate the lower part of Ryan’s right leg.
He was twenty months old.
Three months later he received a prosthetic leg. Today, he is an active two
year old who hasn’t missed a beat and adapted well to his artificial limb.
Ryan’s mother, Jill, had never ridden a bike before the First Annual Coast to
Feeney’s continued on page 6
the Cure took place in September of 2011.
Meet Leanna Scaglione
Interning at the NF Northeast Office and facing NF2 head-on
I am a 21 year old senior at Endicott College, majoring in
Creative Writing, and currently completing a semester long
internship at Neurofibromatosis Northeast. At NF Northeast, I am writing a blog about my own experiences as
someone with Neurofibromatosis type 2. I was officially diagnosed with NF2 when I was sixteen years old. Prior to
learning I have NF2, I was going to be a professional ballerina. I trained for thirty hours a week. My mother even had
the family move so I could receive better
training when I was thirteen years old. Leanna continued on page 6
NF Northeast was founded in 1988, and during the
upcoming year we will be celebrating this milestone
and reaffirming our commitment to cure NF.
Fall 2012
Board of Directors
Dr. Paul D. Epstein, Chairman
Robert Ryan, Treasurer
Lori Ryan, RN, MS, Secretary
John Driscoll
David Eisenstadt
Henry Kay
Melissa Malerba
John Manth
David Rokoff
Jessica Wolfe, PhD
Staff
Karen Peluso
Executive Director
Sonja Nathan
Special Events Director
Linda Yew
Executive Associate and
Patient Outreach Coordinator
Jennifer Brickley
Executive Associate/Marketing
....
The mission of
Neurofibromatosis, Northeast
is to find treatments and the
cure for neurofibromatosis by
promoting scientific research,
creating awareness, and
providing hope and support to
those who are affected by NF.
Neurofibromatosis, Northeast
9 Bedford Street
Burlington, MA 01803
781-272-9936
info@nfincne.org
www.nfincne.org
NF Northeast News
NF Northeast - An Advocate for NF Research
Scientific Meetings Update
Written by Lori Ryan, NFNE Board Member and Chair of the
Medical and Science Committee
Being visible and represented
during scientific and researchrelated meetings is so important to promote NF research
and advocacy. During this
past year, NF Northeast was
represented at several important NF-related meetings, including the ‘Trans-NIH Neurofibromatosis Working
Group Meeting’ in February. This meeting included
9 different departments at NIH, NF Research Program at the Department of Defense (DOD), and NF
representatives. This type of meeting is very valuable to increase visibility and partnering with NIH
and the DOD to facilitate NF research. We have
requested that this be an annual meeting and the
2013 meeting is already on the calendar. In March,
NF Northeast became a member of the Mass
Biotechnology Council (MassBio) and I attended
the ‘Therapeutics for Rare and Neglected Diseases
(TRND) Meeting’. MassBio is an association of
page 2
Promoting, Funding and Participating
more than 600 biotechnology companies, universities, academic institutions and other organizations.
In September, I attended an NIH meeting, ‘Building
Collaborations for Research: An NINDS Nonprofit
Forum’, with the Executive Director of NF Network.
It was a valuable opportunity to speak with the Project Director for NF at NIH, Jill Morris, and other
members of NIH, as well as network with and learn
from other patient organizations. The annual
CNfAD Neurofibromatosis Symposium was held on
September 30th at MGH and was well attended.
The symposium was an opportunity to learn more
about NF1, NF2 and Schwannomatosis, current research and therapies, NF-related symptoms and
challenges. The forum also provided the NF community with an opportunity to share experiences.
NF Northeast not only provides input on the symposium topics, but also provides research grants to
the CNfAD.
It was Albert Einstein who said, “Learn from yesterday, live for today, hope for tomorrow. The important thing is not to stop questioning.” That is so
true in research and in the efforts of NF Northeast
and the NF community!
Scientific Peer Review of NF Research Applications for the Department of Defense
For three days in July, NF Northeast Staff member Linda Yew was in Reston, Virginia serving on the Consumer Review Panel evaluating research applications submitted to the Neurofibromatosis Research Program (NFRP) sponsored by the Department of Defense. As a consumer reviewer, she was a full voting
member, along with prominent scientists, to help determine how the $12.8 million appropriated by Congress for Fiscal Year 2012 (FY12) will be spent on future neurofibromatosis research.
Consumer reviewers are asked to represent the collective view of neurofibromatosis
survivors and patients, family members, and persons at risk for the disease when they
prepare comments on the impact of the research on issues such as disease prevention, screening, diagnosis, treatment, and quality of life after treatment.
Commenting on serving as a consumer reviewer, Linda said, “the opportunity to serve
Linda Yew
on a peer review panel gave me insight into the process of how an idea gets translated
into a viable treatment for NF.”
There were nearly 90 NF research applications reviewed for 2012 fiscal year funds. Scientists applying
propose to conduct innovative neurofibromatosis research aimed at the elimination of neurofibromatosis.
The NFRP fills important gaps not addressed by other funding agencies by supporting groundbreaking,
high-risk, high-gain research while encouraging out-of-the-box thinking.
To be considered as consumer reviewers, nominated individuals must: be a person or family member of
a person living with NF, and be active participants in an NF-related organizational effort (support, outreach, advocacy).
More information about the Department of Defense Neurofibromatosis Research Program is available at
the Website: http://cdmrp.army.mil
NF Northeast News
Raising Awareness
page 3
Beauty Mark Nation Marches On!
It has been a year since Beauty Mark Nation was launched and with the help of the NF Network,
Facebook and Twitter the Beauty Mark Nation tattoo has gone international.
Beauty Mark Nation has reached people in countries as far
as New Zealand, South Africa, Qatar, Nigeria, and Peru.
In addition to the Northeast, Beauty Mark Nation has been
at walks and events all over the United States.
A caring teacher uses the tattoos to educate!
A teacher who has a child with neurofibromatosis in
her class requested some printed literature about
NF as well as some tattoos.
She took the time to educate the school faculty about
NF, and to show their support, the teachers donned the
tattoos and sent along the great photo on the right.
“Best Marketing Campaign”
Governor Deval Patrick met with NF Families during May - NF Awareness
Month. They presented him with a Beauty Mark Nation
membership card and tattoos!
Beauty Mark Nation has received recognition
from Ragan Health Care Communication
News, and has won Honorable Mention
in their 2012 PR and Marketing Awards.
The Ragan Awards competitions are the
most prestigious in the PR and corporate
communications industry. With
nearly 800,000 readers monthly, their
popular news sites are read by
communication professionals in every
country in the world.
Others finalists in this category include:
Children's National Medical Center, Lovelace
Health System, NYU Langone Medical Center
and Mount Sinai Medical Center
The Beauty Mark Nation will be partnering with sponsors
from the health, beauty and fashion industries to increase
awareness of NF, because NF patients do matter and
have stayed in the shadows for too long!
Beauty Mark Nation was at Table for TEN
along with Sean Sullivan, Karen Peluso and Jenny Johnson
beautymarknation.org
NF Northeast News
Coast to the Cure Bike Ride
Kevin McKelvey and his son Tim
The 2nd Annual Coast to the Cure bike
ride built on previous successes and expanded its reach by adding a Mountain
Bike event this year. The Mountain Bike
course, aptly organized by Kevin
McKelvey, was staged at Willowdale
State Forest. On-road and Mountain Bike
participants gathered
for a post ride barbecue at Steep Hill
Beach on the grounds
of the Crane Estate.
Michelle Donovan held
the lead for the sec- Kate Duff and Dan McKee
ond year in a row as highest fundraiser.
A debt of gratitude goes out to Coast to
the Cure Co-Chairs, Kate Duff and Dan
McKee and event sponsors: Eastern
Bank, Hutchinson Medical Supply, Ipswich Bay Glass, Leader Bank, and New
England BioLabs.
Golf-a-thon for NF
Participants pose for a photo before heading out on
the golf course for a challenging 54 holes of golf at the
Ferncroft Country Club - all to benefit NF
14th Annual Fall Golf Classic
page 4
27th Annual International Golf Tournament
Both the Pines and Oaks
courses at the International were brimming with
golfers supporting NF on
June 18, 2012. Dwight
and Susan Evans graciously resumed their
roles as tournament CoChairs and Grand Circle
L to R: Event Founder and NF Board
Travel was Presenting
Chairman, Paul Epstein, Red Sox
Sponsor. Comedian Paul
great Dwight Evans and
D’Angelo performed during Tournament Chairman, Steve Picardi
the dinner and assisted long time
NF supporter Bob Lobel with the
live auction.
The tournament planning
committee honored their unsung
hero, Maria DeFrancesco, with “NF’s
Helping Hands Award”.
Maria DeFrancesco receives NF’s Helping
Hands Award from Steve Picardi
Table for TEN
The 13th Annual Table for Ten
took place on April 4, 2012
and Jenny Johnson, Producer of NECN’s TV Diner,
returned as Honorary Chair.
Once again, Boston’s finest
dining establishments supported NF by offering a
three course dinner to
groups of ten. Wine was
supplied by Bin Ends of
Braintree, and a dessert reHarold Leach and Ron Della Chiesa
ception followed at Parris in
Faneuil Hall featuring confections from Montilio’s Bakery.
Guests enjoyed music, raffles, and an auction with Ron
Della Chiesa hosting the evening festivities.
NF is grateful to Harold Leach and Mela Lew, Gold Sponsors of Table for TEN.
The popular event
was started by two families and has grown to include many large
“clans” all of whom enjoy the camaraderie and support they get
from each other. The committee gratefully acknowledges Platinum
Sponsor - Callahan, Dewan & Murphy, P.C
Patrick and Kerri Callahan are shown (center) with their foursome.
NF Northeast News
page 5
On the Road for NF
NFNE has official entries and
is currently recruiting team
members for the
Boston Marathon on
April 15, 2013
contact the NF Office or visit
the website: nfincne.org
NF’s Falmouth Road Race Team
John Carey and 11 team
mates crossed the finish line
for NF at the Boston Marathon
Jeff Brown, Hilary Ritter and Derek Brown
ran the Chicago Marathon for NF
Shown in photo
at right: L to R
Mindy Walck,
Leah Manth
and Linda
Manth at the
Buffalo
Marathon
Steps2Cure NF
Walk and
5K Road Race
Rainy conditions at the start
of the 6th Annual Walk and
5K Road Race did nothing to
Lori Ryan (L) with Kerri Callahan
dampen
participants’ spirits.
and Nathan Bradstreet
winners of the 5K Road Race
Lake Quannapowitt provided
a picturesque backdrop for NF families, friends and
supporters to connect or reconnect while raising
awareness. Team Deniro won the Highest Fundraising
team prize for the second year in a row. Radio legend
JJ Wright was the event emcee while Dean Bruno and
Team Deniro - Top Fundraisers
Rich Moretti provided music. We are grateful to our Silver
Sponsors: Northeast Regional Ambulance Service, Inc. and Century Bank. Northeast Regional Ambulance also formed a group of employees and family members to participate. Many thanks to Steps2Cure
NF Chairperson/Founder Lori Ryan for organizing another successful event.
Committed to Curing NF
A great time was had by all who attended the
third Annual Committed to Curing NF Dinner
Dance. Anthony’s of Malden was packed
once again. The evening included a buffet
dinner, music, a live and silent auction and
over 100 raffle prizes. NF Board member
NF supporters enjoying a fun night out
Melissa Malerba and her husband Mike created and host the fundraiser in honor of their son, Jonathan, who has NF.
Kudos to Melissa and Mike for their extraordinary commitment to curing NF.
Melissa and Michael Malerba
with Jonathan and Emma
NF Northeast News
Feeney’s continued
That didn’t deter her from opting for the 100 mile
route. This summer, Ryan’s mom and his dad,
Shawn, ran in the Falmouth Road Race as part
of Team NF, as well as, biked in the 2nd Annual
Coast to the Cure bike ride. Their attempts to
raise money and awareness are as limitless as
Ryan’s energy level: the
family hosted a fundraiser at
Bobby C’s Ristorante in late
August and formed a team
to walk in the 6th Annual
Steps2Cure NF in October.
“We want to get out there
and raise as much awareness for not only Ryan, but
everyone affected and affiliated with the NF cause,” Shawn commented. If
the Feeney’s have their way, neurofibromatosis
will be a household word before long.
Leanna continued
My future was being strategically planned, but
surgery to remove tumors in my spine put me in
a wheelchair for four months, and changed those
plans dramatically. After learning how to walk
again, I came to realize my dream of being a professional ballerina was gone. For many years it
bothered me. It depressed me. Made me think
there wasn’t much else to live for, but after going
to college and getting a reality check, I realized I
was wrong. During the time I spent training, I deprived myself of knowing what the world truly had
to offer. I was stuck in the deep end of the
dancer’s swimming pool, and it took almost eight
years to swim back to the shallow end. Now, I
have discovered who I am as a person and what
I want to do with my life with the help of NF2.
On December 14th, 2012 I will compete in the
Miss Connecticut/USA pageant. I want to prove
that despite having NF2, or any other disease, a
person can be more than what society expects of
them. I want to show that having NF2 is not
going to stop me from doing anything I desire. I
showed the doctors when told I wouldn't be able
to dance again and now I want to show the public
that having a disease shouldn't stop a person
from achieving goals. Regardless of the outcome
of the pageant, I look forward to graduating college in the spring. I am ready to take on the
world, and I’m not defined by NF.
page 6
An Appeal from John Manth
NF2 Parent and NF Northeast Board Member
In recent years there have been huge advancements in
NF2 research. Five years ago there were no drug studies for NF2 - surgery, radiation and waiting were the
only courses of treatment. Today there are numerous
drugs being studied including
Avastin, Lapatinib, AR-42, Rapamycin (Afinitor or Ervolemous) and many others. The
cost for this research is extremely high and as more drugs
get tested the costs will continue to rise. I know of at least
John and Leah Manth
two NF2 research labs who had
to recently lay off PhD researchers due to lack of funding. This loss of knowledge and experience is not easily replaced. Additionally, precious time and effort is
being spent by researchers trying to secure funding instead of securing a reasonable treatment for NF.
The NF2 community needs to continue to fundraise realizing that every little bit helps. This money could be
directed toward research projects that focus on understanding the basics of NF2 and eventually lead to effective treatments. I am challenging all NF2 families to
organize and have a fundraiser in 2013. NF Northeast
would like to assist you in your efforts. “Many hands
make light work” is the motto with this challenge. My
hope is that any money raised could be pooled together
to fund one large research study or many smaller studies. No amount is too small - the important thing is that
we keep NF2 research moving forward toward a meaningful treatment. If you are interested in taking on this
challenge, please contact me or Sonja Nathan, Special
Events Director at NF Northeast.
Thank you, John Manth
Jmanth7028@aol.com or 716-930-4585
NF2 Featured on NCIS Episode
sub plot inspired by Leah Manth’s story
Chris Waild is a writer/producer for the hit show NCIS, the
#1 drama on television. After viewing the video on the NF
Northeast website, he was very touched by the story of
Leah Manth, a 12 year old from the Buffalo, NY area with
NF2. In an effort to raise awareness, he wrote an episode
that includes a sub-plot about a child with NF2 that aired
October 23 on CBS (“Lost at Sea”). The mere mention of
NF on a TV show that averages 20 million viewers per week
is something to be excited about. You can view the episode
at: www.cbs.com/shows/ncis/.
NF Northeast News
Your NF Funds at Work
Have you wondered where our fundraising dollars go?
Here is a brief overview of our program activities
over the past 12 months:
Research
In addition to our $100,000 annual grant commitment
to The Harvard Medical School Center for Neurofibromatosis and Allied Disorders (CNfAD), NF Northeast:
• Awarded research grants to Dr. Nicole Ullrich at
Children's Hospital Boston, Vijaya Ramesh, PhD
and Dr. Fawn Leigh, both at MGH
• Met with leading NF scientists at the National
Institutes of Health, and had representation at:
REiNS International Collaboration meetings, the
NINDS Patient Advocacy Meeting, the Nonprofit
Forum to Advance Therapeutics and the National
Organization of Rare Disorders (NORD)
• Is a member of the Massachusetts
Biotechnology Council
Scholarship Program
The NF Northeast Scholarships are awarded to
assist persons with neurofibromatosis (NF) to
continue their education after high school.
Grants of $1,000 are awarded annually to go
towards college related expenses, such as tuition/fees and books. This program was established with funds raised at the Steps2Cure NF
road races and walks.
2012 Scholarship Recipients:
Kristin Archambault
Home town: Ashland, MA
College: Worcester State
University – freshman year
Samuel DiBella
Home town: East Greenwich, RI
College: New York University –
sophomore year
Advocacy
• Along with our NF Advocacy partners, we have
successfully secured over $230 million for the
DOD's Congressionally Directed Medical Research
Program since 1996
• Advocated for NF Specific Language in Labor HHS
Appropriations for the National Institutes of Health
• Nominated consumer reviewers to participate in the
Peer Review Panel which reviews CDMRP
research proposals for NF
Awareness Campaign
• Launched Beauty Mark Nation which now has a
global reach to many countries beyond the USA
• Advertised NF on billboards along major highways,
and on the MBTA subway cars
• Been the subject of TV interviews, newspaper
articles and online publications
• Produced a 3 minute video currently seen on the
homepage of our website
Support for NF Patients and Families
• Provides information, webinars, referrals and
introductions to a caring and active community
• Sponsors children to attend Camp New Friends
(www.brainycamps.com)
• Provides college scholarships for students who
have NF to further their education
NF Northeast raises 70% of its revenues at events.
Events serve many purposes. They raise funds, increase
awareness and build community by bringing patients,
families and friends together - all while having fun!
page 7
Kelly Robbins
Home town: Oxford, MA
College: Western New England
University – junior year
Leanna Scaglione
Home town: Goshen, CT
College: Endicott College –
senior year, NFNE Intern
Refer to our website for further information about applying.
The chart below displays our functional
expenses for the year 2011.
Management
12%
Fundraising 7%
Programs 81%
NF Northeast News
page 8
Harvard Medical School Center for NF and Allied Disorders (CNfAD)
NF Northeast has provided support for the CNfAD since its inception in 2002 because we share their commitment to facilitate
coordination and collaboration between research laboratories and clinics. A portion of our funding covers the role of the
Clinical Research Coordinator, as well as the maintenance of the blood and tissue bank and patient enrollment in studies.
The following was written by Katie Slusarz to describe the enrollment process for NF patients or family members who are
considering participation in this very important research.
My name is Katie Slusarz and I am the Clinical Research Coordinator for the Center
for Neurofibromatosis and Allied Disorders. The CNfAD is a "virtual" center with members at different Harvard Medical School affiliated hospitals. Our goal is to facilitate
both basic science and clinical research studies to understand and treat Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis. My role is to support the activities of the CNfAD investigators, particularly in helping to obtain informed consent
from individuals interested in participating in research and in donating blood and/or
tumor tissue samples.
The importance of our blood and tissue bank is to create a repository of samples and
Katie Slusarz
relevant clinical information to foster future research of the genetic and molecular asClinical Research Coordinator
pects of these conditions. This provides the opportunity to discover and explain the
crucial links between the many genetic causes and various manifestations of these conditions. Such discoveries could lead to improved diagnostics, treatments, and therapies.
Study participation is completely voluntary and requires less than one hour of a person’s time.
For patients and their families a one-time blood draw, review of your medical and family histories, and potential future donation of excess tissue from any surgery. Interested participants may be enrolled at either
Massachusetts General Hospital or Boston Children’s Hospital. For people unable to travel to Boston, we
can generally collect the necessary information over the phone, or by reviewing medical records. Blood
collection kits can be sent to participating members wherever they are located. Blood can be drawn at the
next doctor’s appointment or at a nearby lab/hospital. To learn more about the research conducted by the
CNfAD, please visit the website at www.cnfad.org or contact Katie Slusarz at 617-724-2365 or administrator@cnfad.org.
CALENDAR OF EVENTS
a partial listing of what is coming up in 2013
Details to follow on our...
25th Anniversary Celebration!
Monday, April 15
Boston Marathon
Monday, June 17
28th Annual Golf Tournament
at The International
Saturday, September 7
Coast to the Cure Bike Ride
Monday, September 30
15th Annual NF Fall Classic Golf
Tournament
Saturday, November 2
4th Annual Committed to Curing NF
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781-272-9936 ~ www.nfincne.org ~ info@nfincne.org
NF, Northeast accepts
vehicle donations. Next
day pick-up is possible.
You or your business can recycle
cartridges and cell
phones for NF. We
recycle through the
FundingFactory.
Our ID# is 43816.
If you’d like to make a contribution to NF in memory of someone,
in honor of someone, or for any occasion, we will acknowledge
your donation per your instructions.
Secure donations may be made through our
website at www.nfincne.org.
Checks are payable to NF, Northeast. Mail to
9 Bedford Street, Burlington, MA 01803