THe CloCk Is TICkIng For THe HHT DIagnosIs anD

Transcription

Hereditary Hemorrhagic
Telangiectasia Foundation
International, Inc.
(Osler-Weber-Rendu Syndrome)
Volume 2 • 2012
For Family, Friends and Supporters
The Clock is Ticking for the HHT Diagnosis and Treatment ACT
By Marianne S. Clancy, Executive Director, HHT Foundation International
On June 3, 2011, Representatives Elton Gallegly (R-CA) and Jim
Himes (D-CT) introduced in the U.S. House of Representatives
H.R 2123, the "HHT Diagnosis and Treatment Act of 2011" (DATA)
and on June 8th, Senator Tim Johnson (D-SD) introduced
similar legislation in the U.S. Senate, S.1167. If passed, this
act would provide $5 Million per year for 5 years. That’s $25
Million allocated by the federal government for HHT research,
administrative support for the HHT treatment centers, healthcare
professional education, and an awareness campaign for the
general population. All of this would be coordinated between
the HHT Foundation International and the Centers for Disease
Control and Prevention (CDC) and the National Institutes of
Health (NIH). But, WE ONLY HAVE UNTIL DECEMBER TO GET
THIS BILL PASSED!
IMAGINE what could
be accomplished in
five years if DATA was
passed. We believe that
a genetic solution, dare
I say “cure”, for HHT
could be discovered.
The HHT Foundation
also believes that the true prevalence of this disease could
be determined. This would lead to the diagnosis of tens of
thousands of people around the world which would initiate
screening and treatment. Lives would be saved and unnecessary
deaths and disabilities would be stopped. If we were talking
about saving your child or grandchild from a needless tragedy,
wouldn’t you want to take immediate action?
Through early identification and medical interventions of
at-risk HHT individuals, devastating and costly consequences
of unrecognized HHT such as stroke, hemorrhage, disability and
sudden death can be Prevented!
It has been calculated that investing in HHT will produce a
$6.6 Billion in Health Care SAVINGS through management
of HHT¹. How many blood transfusions have you and/or your
family members endured? Who in your family has suffered a
stroke or has had some other manifestation of the disease that
limits their ability to work? Passage of this bill would require the
federal government, through the CDC and NIH, to work with
the HHT Foundation and the U.S. HHT Treatment Centers to
address all of these issues and much, much more. DATA asks
for $5 Million per year for five years. That may sound like a
lot to you and me but look how our request compares to what
other uncommon disorders, with a similar U.S. prevalence, are
receiving from the federal government.
Congressional Appropriations for Uncommon Disorders*
Disorder
Prevalence in U.S.
Federal Funding 2012 Total
HHT
70,000
$0
Neurofibromatosis
100,000
$242.85 Million
Chronic Mylogeneous
Leukemia
4,600 diagnosed
$22.5 Million
Tuberous Sclerosis
25,000 – 50,000
$41 Million
Fragile X**
37,000
$50 Million
*Department of Defense Congressionally Directed Medical Research Program
**LHHS Appropriations
Do you find these funding statistics as egregious as we do? YOU
CAN DO SOMETHING TO CHANGE THIS CHART. If your Senators
or House Representative are not co-sponsoring the HHT
Diagnosis and Treatment Act then you need to contact their
local and/or Washington, D.C. office and ask them “Why?”. (A
complete list of all co-sponsors can be found on page 19) MAKE
IT YOUR PRIORITY TO ENGAGE YOUR FAMILY, FRIENDS, AND
COMMUNITY. Your Senators and House Representatives won’t
know about HHT, how it’s affected your family, or that they can
make a difference by co-sponsoring the HHT Diagnosis and
Treatment Act, unless you tell them. It is time for HHT to receive
the funding it deserves!
The HHT Foundation has produced a short video (4 minutes),
More Than A Nosebleed: HHT, that can be shared with your
Congressman/woman. We have also made it easy for you to
send your Senators and House Representative an email asking
them to co-sponsor the HHT Diagnosis and Treatment Act.
Visit http://video.hht.org to access both of these tools. The
email is pre-written; all you need to do is enter your contact
information. The system will generate your Senators’ and House
Representatives’ email address. We need more congressional
support by late fall or we will have to start over again with
the next Congress!
What are you waiting for? We don’t want another vibrant child,
parent, or grandparent to lose their life.
The clock is ticking . . . . THE TIME TO ACT IS NOW!
¹Yale HHT Center 2005
Volume 2 • 2012
Hereditary Hemorrhagic Telangiectasia Foundation International, Inc.
DirectConnection 1
President’s Message
Did you know that 9 out of 10 people who have HHT are
not yet diagnosed or worse yet, they are misdiagnosed? Do
you know what the 'prevalence' of HHT is? These are the
questions that were addressed during presentations made at
the last HHT Board meeting on June 23-24, 2012.
HHT FOUNDATION
INTERNATIONAL
Marianne Clancy, Executive Director
Monkton, MD
James Gossage, MD, Medical Director
Augusta, GA
The board meeting revolved around a discussion and acceptance of the
updated Strategic Plan for the HHT Foundation. The plan focused on
increasing awareness, fundraising and research.
Robert Berkman, Member Emeritus
Bluffton, SC
Awareness
BOARD OF DIRECTORS
The issue for the board is how do we increase awareness in the general
population and medical communities. Awareness is a goal of the current
mission, with the effort falling mainly into four categories:
Dennis Routledge, President
Garden City, NY
• The newsletter
Terry Thompson, Jr., Vice President
Summit, NJ
• The website
• Conferences
Charles Atkins, Treasurer
Bluffton, SC
• Monitoring social media
Beth Plahn, Secretary
Garretson, SD
There is positive feedback from our members that the newsletter provides a
good source of in-depth information. We have work to do, however, on the
website. Do we mobile enable?
Angela Carlisle-Brown
Concord, CA
Fundraising
Marjan Chittaee
New York, NY
Fundraising supports the day-to-day operation of the Foundation, provides
funds to increase awareness, and most importantly funds research. Without
fundraising we would have to close the doors of the HHT Foundation.
Imagine next year having ‘Walks for HHT’ during June 2013 in every state
and province in the United States and Canada to raise funds and increase
awareness. The Executive Director and the Board of Directors are committed
to developing a comprehensive and wide reaching fundraising plan.
Roy Forey
Washington, DC
Ed Jurevic
Chesterfield, MO
Michael Lewis
Venice, CA
Research
Chandra McMahon
Downingtown, PA
Research is necessary to reach the ultimate goal of a cure. The HHT Foundation
has been successful in leveraging small investments in research that have
resulted in large investments by NIH and CDC. One of the most important
questions that has not been answered scientifically is the ‘prevalence’ of HHT:
“Are 1 in 5000 people affected by HHT or 1 in 1000?” We have estimates, but
no hard data. As a result of the hard work of the Executive Director and one
board member, the board authorized the investment of $30,000 to fund a joint
study by the CDC and a very large medical organization in the western United
States (with over 3 million members) to answer this very important question.
This study will produce important results for our government and research
initiatives.
The Board also discussed plans for the upcoming National Conference in
Orlando, Florida October 26 – 28th. We expect a large turnout so I would
advise signing up early. There will be an expanded youth program building
on the very successful program in St. Louis. The adult program will have
38 workshops, plus 16 general sessions including a panel of ENT (Ear, Nose
and Throat) experts discussing the various treatments for HHT nosebleeds.
Attending a patient conference is a great way to expand your knowledge of
HHT and meet some new friends. Bring your family and spend a few extra
days in this fun and exciting city.
Have a great summer and I look forward to seeing you in Orlando this fall.
Jody Nissan
Canton, MI
Mike Nolan
Cork, Ireland
Scott Olitsky, MD
Leawood, KS
David Rinn
Seattle, WA
John Spencer, Jr.
Spring Hill, FL
INTERESTED IN SERVING
ON OUR BOARD OF DIRECTORS?
Call the HHT office at
800-448-6389
or e-mail us at hhtinfo@hht.org.
Tell us your talents and how you feel you can help
move the foundation forward.
Dennis Routledge
2 DirectConnection
HHT Foundation International, Inc. • www.hht.org
Volume 2 • 2012
HHT Foundation International
Mission & Value Statements
Over the last 20 years, The HHT Foundation International, Inc. has grown
from its infancy — a small group of dedicated individuals organizing and
planning around a kitchen table, to its young adolescent years, which we
are currently in, just waiting to break free and truly spread our wings.
Through these years of growth, the HHT Foundation has been able to
clearly define its mission.
The Mission of the HHT Foundation International is to find a cure for
HHT while saving the lives and improving the well-being of individuals
and families affected by HHT.
To achieve this mission, the HHT Foundation will:
❖ Fund research to
find better treatments and a cure.
about HHT so that awareness of crucial
diagnosis and available treatments prevents needless disability and death.
❖ Educate families and physicians
❖ Provide linkages between people affected by HHT.
❖ Collaborate with multidisciplinary HHT Treatment Centers worldwide
Published by:
HHT Foundation International, Inc.
P.O. Box 329, Monkton, MD 21111 U.S.A.
TEL: 800-448-6389 (U.S.) | 410-357-9932 (Int’l)
FAX: 410-357-0655
WEBSITE: www.hht.org
E-MAIL: hhtinfo@hht.org
Graphic Designer: Rachael Bajus
The HHT Foundation International, Inc. was
formed to aid and support families with the
genetic disorder Hereditary Hemorrhagic
Telangiectasia (Osler-Weber-Rendu Syndrome).
Please feel free to copy this newsletter and share
with family, friends and physicians.
www.hht.org
while advocating for patient access to these Centers.
❖ Advocate for and support those with HHT while
and governmental awareness of the disorder.
You can now use your
credit card online to:
increasing public, private,
• donate to our annual appeal campaign or
make general donations,
• become a member
• renew your membership
• give gift memberships
• register for conferences!
❖ Engage the scientific and medical community so
that talented individuals
dedicate efforts toward advances in HHT screening, diagnosis, treatment,
and research.
The HHT Board of Directors and Foundation staff live by this mission on a
daily basis. Every project must meet at least one of our mission’s objectives.
This mission acts as a beacon of light that we are always striving to reach.
In November 2008, the Board of Directors adopted an HHT Value
Statement. A value statement is different from a mission statement in that it
identifies characteristics that we want to be identified with as a Foundation
verses actions we want to achieve. It is the sincere desire of the Board that all
HHT Centers, physicians, researchers, staff, and members will incorporate
these values into everything they do to advance the HHT mission.
HHT VALUES
characteristics that direct all of our thoughts and actions
as we strive toward a common goal.
❖ Compassionate
❖ Responsive
❖ Ethical
❖ Results Oriented
❖ Patient & Family Focused
❖ Collaborative
IN THIS ISSUE...
COVER STORY......................................................... 1
Scientific & Medical Update.............................7-14
Clinical Research Trials.......................................... 9
HHT Q&A Corner.................................................. 14
Our Story........................................................16-17
Legislative Update.........................................19-20
Fundraising Update........................................21-22
National Patient Conference...........................23-25
Remembering Molly Dunne................................ 26
Memorials & Tributes.......................................... 27
June Awareness Campaign............................Insert
Membership Form..........................................Insert
Volume 2 • 2012
DirectConnection 3
Welcome New BOARD Members
Marjan Chittaee has served as a communication consultant with Mercer Consulting
in multiple capacities for almost seven years. Beginning her career in Mercer’s
Workforce Communication and Change business, Marjan worked to deliver corporate
communication strategies and implementation solutions to Fortune 100 clients. She
then went on to serve as a communication advisor to the firm’s Chief Operating
Officer and developed and implemented communication and engagement strategies to
meet senior leadership objectives. She is now providing communication support to the
Stanford Center on Longevity in conjunction with Marsh & McLennan Companies and
will begin pursuing an MBA degree at NYU Stern School of Business as a Consortium
Fellow in the fall of 2012. Marjan has a bachelor’s degree with High Honors from
Swarthmore College and is the recipient of an IABC Gold Quill communication award
and multiple Apex communication awards.
Marjan has already begun working on the HHT Foundation Marketing and Awareness committee. She has been
instrumental in the design, implementation, and analysis of the Board of Director’s Awareness Strategic Initiative
that you will hear more about in the coming months.
Marjan does not have HHT in her family but she has worked with a colleague who does and she wants to make
a difference in the awareness and education of this disease. Marjan resides in New York City and she enjoys
attending (and singing!) opera, film, Victorian literature and travel.
Chandra McMahon is currently Chief Information Security Officer and Vice President
of Corporate Information Security at Lockheed Martin. In this role she is responsible for
Lockheed Martin’s information security strategy, policy, security engineering, operations
and cyber threat detection and response. Prior to her current role, she served as the
President of Lockheed Martin Properties, Inc. with responsibilities including corporate
real estate, commercial leasing, economic development and facilities management.
Chandra has more than 22 years of diverse management and technology experience
leading critical initiatives for Lockheed Martin. Beyond Lockheed Martin, and as a
director at First Consulting Group, she launched an industry-leading enterprise content
management product suite for the pharmaceutical sector and led a multi-national
product development team with members in Asia, Europe and the United States.
Chandra holds a bachelor of science degree in industrial engineering and operations research, and a master’s
degree in engineering science. She has also earned the designation of Project Management Professional (PMP)
from the Program Management Institute.
Chandra and her family live near Philadelphia, PA. Her husband and children have HHT. Chandra is the second
generation of the McMahon family to serve on the Board of Directors and she is ready to put her high level
business skills to work for the HHT Foundation.
David Rinn has an extensive background in consumer internet and enterprise software.
He served as Chief Financial Officer and then Senior Vice President of Corporate
Development & Strategy for The Generations Network, Ancestry.com. Prior to his
work at TGN, David spent eleven years at Microsoft Corporation in a variety of roles,
including Division CFO, Product Group Controller, and Corporate Development. Earlier
in his career, David worked in the investment banking division of Morgan Stanley.
David earned a bachelor’s degree cum laude in Geology from Vassar College and an
MBA from the Anderson School at the University of California at Los Angeles (UCLA).
David and his family have just recently moved back to Seattle, WA after eight years in
Park City, UT. David’s wife Laura, son Hayden (age 13), and daughter Taylor (age 11)
were each diagnosed with HHT during the winter of 2011/12. David is looking forward to using his skill set to
advance the mission of the HHT Foundation.
4 DirectConnection
Volume 2 • 2012
From the Desk of the Executive Director
The HHT Foundation’s office is busy this summer incorporating the recommendations
prescribed by the Board of Directors at our recent meeting in June. We believe that as a
result, the Foundation will leap ahead as an organization and expand our resources that
will enable us to increase research, education, awareness and support-key components of
our mission.
Our focus is laser-like and specific to programs that are critical to you, our members and
families affected by HHT. One key priority is funding the North American Patient Registry/
Database that would link all HHT Centers of Excellence de-identified (anonymous)
patient information on organ involvement, genetic data, medical information and any
complications experienced into one Registry. We currently have a team in place that is
planning a two- day conference to bring all of the HHT Centers together so that we can
agree on the elements to be included.
Marianne S. Clancy
Executive Director
Studying the natural history of HHT, or any disorder, enables scientists and clinicians to determine key patterns that
previously would allude them. Instead of making assumptions from a few thousand patients, the data is more powerful
when analysis is done on 10 times, or in our case 14 times, the number that any one center could do on its own. Most
uncommon disorders have such a registry. We are very committed to this project and need your help through
donations to make this happen. If you are interested in learning more, please contact me at any time.
The HHT North American Study of Epistaxis or NOSE Study, is important to the HHT community. There are 6 HHT
Centers that are participating, so please consider joining this important study to determine the effectiveness of various
therapeutic agents used in a spray to diminish nosebleeds.
We are currently engaged in updating our education materials that are used by you and your family to teach extended
family members and physicians about HHT. The HHT website will be getting a makeover so that the information will
be comprehensive but streamlined and easier to find.
Our Patient and Family Conference in Orlando will highlight 4 specialists in Otolaryngology (ENT) or Rhinology that
treat HHT patients. Each physician will present information on techniques used to manage HHT nosebleeds. There is
no one epistaxis (nosebleed) treatment that works for all patients. This panel will expose you to a variety of philosophies
and treatments so you will be able to ask better questions and receive more appropriate care. The Youth Program is
greatly expanded and Orlando is the ideal venue for the whole family! Even if you have been to a conference recently,
changes in HHT diagnosis and treatment are occurring at a rapid pace, so it is important to upgrade your knowledge.
The activities that took place during National HHT Awareness Month were outstanding! I must tell you that when
I watched online the Niagara Falls light up red and blue on June 30th, it was quite sobering. My reaction was one of
rememberence: my mother’s daily nosebleeds, trips to the E.R. as well as witnessing her constant anemia due to HHT.
I also thought about the sister that I never knew who was stricken at the age of 14 due to HHT. However, I was also
filled with HOPE - hope that we will obtain advanced treatments so that our children will not suffer needlessly and
that one day, HHT will be a disorder for the history books! Reading Chelsea Lewis’ courageous battle (page 16) only
strengthens the HHT Foundation’s resolve to “NEVER give up”, as Winston Churchill once said, and to continue to fight
for awareness and government funding.
We will continue to press Congress for passage of the H.R. 2123 and S.1167. If you have not done so, please go to our
video website page: http://video.hht.org/capwiz.html and take 2 minutes to write your Senator and Congressman/
woman. If you do not know who they are, the site will search for you by zip code. It is up to us to educate and inform.
WE NEED YOUR HELP to be successful! Additionally, if you are a military family and have HHT, please contact me so
we can discuss how you can become involved to get this bill passed and obtain research funding for HHT.
The time to act is NOW!
I am looking forward to seeing you in Orlando!
Volume 2 • 2012
DirectConnection 5
HHT Foundation Celebrates “HHT Global Awareness Day”
The HHT Foundation announced the first-ever HHT Global Awareness Day
which was held on June 23, 2012. International Patient Groups from around
the world joined together on this day to raise awareness for HHT, which now
affects 1.4 million people world-wide. HHT patients and their families around
the globe were asked to change their profile to create awareness and share our
video entitled, More than a Nosebleed: HHT, on Facebook and Twitter.
You can read more about June’s HHT Awareness Month activities in this
newsletter's special supplement.
International Meeting of HHT Patient Associations
By Marianne S. Clancy, Executive Director, HHT Foundation International
On May 5th the Southern Italian patient association, HHT ONLUS,
hosted the third international meeting of HHT associations. The
meeting was organized by Fabrizio Montanari and was held at the
Marriott Hotel in Fiumicino, Rome. The purpose of the meeting
was to learn from each other’s experiences, exchange ideas, and
develop initiatives aimed at fostering new research and medical
treatments.
The first two meetings of this group took place in collaboration
with the HHT International Scientific Conferences that were
held in Santander, Spain (2009) and Kemer, Turkey (2011).
After these two meetings it was
decided that the group needed
to meet annually. In attendance
this year were representatives
from the international patient
associations in Denmark,
France, Germany, Ireland, Israel,
Northern Italy, Southern Italy,
North America and Spain.
The results of the weekend
meeting included:
1. A general understanding
of each patient association,
including each country’s patient
population, the number of association members, composition of
the association’s board of directors, the relationship with the HHT
Center (if applicable), the awareness activities promoted by each
association, and the funding sources for each country represented.
2. The establishment of an HHT European Network in order
to benefit from Eurodis (www.eurodis.org) , the “Voice of Rare
Disease in Europe”, which provides funding (3,000 Euro per year)
to patient advocacy organizations for conferences, meetings,
awareness activities, etc. Eurodis is similar to the National
Organization of Rare Diseases (NORD) in the United States.
The new HHT organizational website, www.hhteurope.org, has
been registered. The HHT Foundation is interested in fostering
a European Network so we can combine efforts and drive “Big
Pharma” research. The European Network will also allow us to
6 DirectConnection
work with our international partners to obtain funding from the
National Center of Translation Research (www.ncats.nih.gov) at
NIH which is a funded center specific for rare disorders.
3. The creation of an HHT Global Awareness Day. In
2010, U.S. Congress declared June HHT Awareness Month.
Throughout North America we are organizing activities to
raise awareness and money for various HHT initiatives during
this time. The international patient association representatives
determined that the HHT community needed an HHT Global
Awareness Day. A date was set – June 23rd – to commemorate
Grace Nolan’s birthday (Grace
Nolan Foundation, Ireland).
This will allow the group to
coordinate global activities so
that media attention can be
obtained in 2013.
4. A collaborative effort
to fund HHT research. As a
union of HHT members from
around the world, the group
represents depth and breathe.
We are stronger together than
we are on our own. Luisa
Botella, PhD, a scientist and
member of the Spanish Patient
Association Board, recently returned from a meeting where
she noted that very small organizations were receiving research
funding. In addition, Mike Nolan, President of the Grace Nolan
Foundation in Ireland, attended the Eurodis meeting last year and
brought back a wealth of knowledge.
For the first time, the international patient associations met
outside of a scientific conference and much was gleaned from
the meeting. There was time for each association to present
their goals, accomplishments, and challenges. Discussions
were centered around increasing HHT global awareness and
supporting HHT research around the world. Overall, a bond was
developed on May 5th that cannot be broken – only strengthened.
Patients, physicians, and researchers worldwide will benefit from
the relationships that were established in Rome.
Volume 2 • 2012
SCIENTIFIC
SCIENTIFICAND
ANDMEDICAL
MEDICALUPDATE
UPDATE
In Vivo Cell Biology Approach to Defining the Natural History
of HHT-Associated AVMs A Six Month Progress Report
By Beth Roman, PhD, Assistant Professor in the Department of Biological Sciences at the University of Pittsburgh
Dr. Roman received a one-year, $45,000 research grant from the
HHT Foundation International thanks to the generous donation
of an anonymous donor. "The study of the natural history of AVM
development is crucial to HHT research and is necessary for drug
development and an eventual cure for HHT," states Marianne
Clancy, Executive Director of the HHT Foundation International.
Dr. Roman has submitted the following six month progress report
on her research.
See those two-inch
long striped fish in
your home aquarium,
darting happily among
the plastic plants?
Those fish – OK,
maybe not those fish,
but certainly their
close relatives – are
allowing us to gain
unprecedented insight into the natural history of HHT-associated
AVMs. My laboratory at the University of Pittsburgh is filled
with Danio rerio, commonly known as zebrafish, which breed
throughout the year and provide us with externally fertilized,
optically clear embryos that develop at lightning speed: 24
hours after fertilization, these embryos have a beating heart and
stereotypical primitive vertebrate vasculature. As a postdoctoral
fellow at the NIH, I stumbled upon a zebrafish line that produced
homozygous mutant embryos that developed an abnormal
embryonic circulation pattern, with blood flow confined to a
small subset of blood vessels in the head. I found that these
fish harbored a mutation in Alk1, and detailed microscopic
analysis of these transparent embryos uncovered a high-flow
AVM responsible for the abnormal circulation pattern. My lab
continues to use this zebrafish model, which invariably develops
AVMs in a highly predictable spatiotemporal manner, to gain
insight into the role of Alk1 within the endothelium and the
molecular and cellular errors that lead to HHT-associated AVMs.
So how can we use the zebrafish to help develop strategies for
preventing AVM development in HHT patients? The accessibility
and transparency of zebrafish embryos synergize to make them an
excellent model system for imaging developmental processes, so we
can literally document the natural history of AVM development.
Thanks to the generous support of the HHT Foundation, we have
begun to use time lapse two-photon microscopy to image AVM
formation in alk1-deficient zebrafish embryos engineered to
express a green fluorescent protein in their endothelial cell nuclei.
The infrared laser that we use for imaging allows us to see these
fluorescent cells deep within the head of the live embryo. By taking
images at multiple depths over time, we generate 4-dimensional
data sets, rendered as movies, that reveal the cell behaviors that give
rise to AVMs. Although we are still customizing our cell tracking
Volume 2 • 2012
algorithm, our preliminary impressions are that shunt enlargement
occurs primarily via increases in endothelial cell size and not
number. However, we do see many dividing cells in the arteries
upstream of the shunt and are currently quantifying these events
to determine whether the number of cell divisions is increased in
Alk1 mutants compared to wild type siblings.
Based on these data, one might think that insufficient Alk1 function
within these endothelial cells might cause them to grow larger or to
divide more frequently than their wild type counterparts. But there
is a caveat: the cells that we have imaged don’t normally express
Alk1. So why would cells that don’t normally express Alk1
behave differently in the absence of Alk1? This paradox begins
to make sense when one considers that AVM development in our
alk1 mutants is clearly a two-step process. In Step 1, Alk1-positive
cranial arteries enlarge in the absence of Alk1 function, sending
huge volumes of blood into Alk1-negative downstream vessels. In
Step 2, these downstream vessels adapt to the onslaught of blood
flow and the associated elevation in mechanical forces by retention
of normally transient arteriovenous connections, which enlarge
into high flow AVMs. To further explore the latter phenomenon,
we have very recently begun to work with Dr. Kerem Pekkan
and colleagues in Biomedical Engineering at Carnegie Mellon
University. By applying computational fluid dynamic simulations
to our time lapse two-photon data sets of shunt formation, their
preliminary results suggest that high levels of mechanical force at
the arterial inlet and venous outlet of the presumptive AVM do
in fact cause these vessels to enlarge, just as we suspected. Since
mechanical force is inversely proportional to the vessel radius,
this enlargement serves to decrease forces to “acceptable” levels.
We next hope to combine these computational fluid dynamic
simulations with our cell tracking data to precisely determine
how mechanical force affects endothelial cell migration, division,
and size to lead to high flow AVMs. To our knowledge, this type
of cross-disciplinary analysis, combining bioengineering and
cell biology approaches, has never before been applied to the
problem of AVM development, and we are very excited to move
forward in this new direction.
In the remaining six months for which this project is funded, we
plan to not only complete our biomechanical and cell biological
analysis of shunt formation in Alk1 mutant zebrafish, but also
to apply our time lapse two-photon microscopy methods to
visualize the first step in AVM development, enlargement of
Alk1-expressing arteries. Interestingly, we believe that arterial
enlargement in Step 1 results from the lack of an Alk1-dependent
flow response required to limit arterial caliber at the onset of flow,
whereas AVM formation in Step 2 results from a normal, Alk1independent flow response required to normalize hemodynamic
forces. If we can mechanistically define these two flow responses,
we can devise strategies to enhance the former or abrogate the
latter to moderate AVM development in HHT patients.
DirectConnection 7
SCIENTIFIC AND MEDICAL UPDATE
Preliminary Health Survey Results: Hereditary hemorrhagic telangiectasia and common medical conditions
By Anna Hosman*, Maneesha Silva^, Hannah Devlin£ and Claire L. Shovlin, HHTIC London, Hammersmith Hospital, Imperial College Healthcare NHS Trust,
London, UK; NHLI Cardiovascular Sciences, Imperial College London, UK; and Medical Schools of the Academic Medical Center, University of Amsterdam, NL*, Imperial
College London, UK^, and Barts and the London SMD, UK£
In April 2012, many of you were notified that we are conducting
a survey on HHT and common medical conditions. Three
months later, and more than 800 people have replied. We are
very grateful for you, especially since most of you had to fill in
more than 50 questions many of which were very detailed. We
have begun the process of data analysis, and wanted to share
some early results with you.
Figure 1:
Geographical location of HHT
survey participants
Why are we conducting this study? First, there is very little
information on how to manage common medical conditions
in people with HHT. Are people with HHT more or less at risk
of developing certain common conditions? Can they be treated
for illnesses in the same way as other people? These are just two
questions that need answers.
Figure 2:
Ages of 655 survey participants
with HHT
Secondly, mechanisms that cause HHT are being studied all
over the world - crucial information regarding genetics and
molecular and cellular pathways have been published. We
think that studies like ours should be helpful in guiding the
translation of the laboratory-based findings to patient care.
Third, having evidence-based information on diseases and
treatments will also make it easier for clinicians who are not
experts on HHT, to give better lifestyle advice and, we hope,
better treatment plans. We are particularly interested in giving
you more information about what helps or does not help your
nosebleeds.
Who replied? We have had responses from 21 different countries
all around the globe, and a wide range of ages. As shown in the
figures, the majority of participants come from North America
or the United Kingdom, and the majority were aged between 50
and 59 years old, with the average age being 54 years.
What patterns of HHT were reported? More than 600 of you
with HHT reported having nosebleeds, and more than half have
them at least once per day. You told us lots of things about your
nosebleeds and we hope to have these data analysed and back to
you later this year.
More than 400 of you with HHT reported having at least one
“arteriovenous malformation” (AVM). This is a connection
between an artery and vein, most commonly found in the lungs,
brain, liver or gut. As shown in Figure 3, 318 of you had AVMs
in one organ of the body, 116 had them in two organs; 29 had
them in 3 different places; and 6 of you had them in four or more
organs. More people told us they had AVMs in the lung than in
any other part of the body.
How do you look for patterns, and what have you found so
far? As you know, we asked for people with and without HHT
to fill in the survey. This is important because it allows us to
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Figure 3:
Types of arteriovenous
malformations (AVMs) reported
by 655 participants with HHT
look at whether there are differences between people with and
without HHT. We can then start to check if the data are strong
enough to be sure about differences (this is why we need so
many people to respond), and then to think about possible
explanations.
So for instance, when we looked at who smoked, and how much
red meat people ate, there were no obvious differences between
people with and without HHT. We think this may be because
many of our respondents without HHT live with or grew
up with people with HHT. We cannot always say if there are
differences or not, because we need more people to reply to be
sure patterns are not seen by chance. For example, we were very
pleased to see that although almost one third of respondents
with HHT reported that they smoke or have smoked, 151 of
you reported to have stopped smoking. We are waiting for more
replies from people without HHT to see if they are better (or not
as good) at stopping smoking.
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Sometimes your information surprises us. For example, alcohol
was reported to make HHT nosebleeds worse more than 100
years ago, and sun exposure is known to bring on telangiectasia
in people without HHT (not the same as HHT telangiectasia,
but still a similar sort of process). So we thought people with
HHT would report drinking less alcohol, and being more
careful in the sun. But when we looked at the patterns, we didn’t
really see any differences between people with HHT and people
without. More than 600 of you with HHT reported sunburn, and
of these burns, more than 250 were moderate to severe burns.
We also asked about family members hoping you might be able to
give us some information- and we were amazed by the amount of
family data you were able to provide for us. So far, you have given
us detailed information about 489 parents and 339 grandparents
with HHT, 556 parents and 881 grandparents without HHT, and
many other family members. We really appreciate the amount
of effort and time some of you had to spend on this section.
These numbers will make our results much more informative,
because they let us analyse data and recognise patterns in ways
that we otherwise would not be able to do.
Who are we, and what are we doing now? The HHT Survey
Research Team consists of three medical students working
under daily supervision of Dr. Shovlin.
The survey has been divided into four parts, with each student
and Dr. Shovlin focussing on specific parts, to give your data the
attention it deserves. We are busy analyzing all of your data to see
patterns, and work out if these patterns occurred by chance or
not. We still need more respondents for some of the questions, but
hope to have most of the answers for you by the end of the year.
How can I be part of this research? It is not too late! If you
haven’t filled in the questionnaire yet, you can still fill it in at:
www.imperial.ac.uk/medicine/HHTsurvey2012. If you already
have, you could still help us by having friends and family who
have HHT, or who don’t have HHT, fill in the questionnaire. The
more people participating, the better we can interpret the data.
YOU can help advance HHT Research
Brain AVM Study
NOSE Study (North American Study of Epistaxis in HHT)
This is the first large-scale study of brain AVMs in HHT
patients who will be recruited through thirteen HHT Centers
across North America (9 US; 4 Canada) and through the
HHT Foundation. The goal of this study is to determine what
genetic and clinical factors signal high risk hemorrhage from
brain AVMs. This study should ultimately help doctors make
decisions about brain AVM treatment for individual patients
and will drive further research in brain AVM therapies.
The HHT Foundation is looking for a long-term solution to
improving the quality of life for HHT patients who suffer from
moderate to severe nosebleeds. The purpose of the NOSE Study
is to carefully examine the benefit and safety of 3 nasal sprays
for patients with HHT-related epistaxis. A placebo has been
included to allow an accurate estimate of both benefit and safety.
Eligibility
• Have a documented clinical or genetic diagnosis of HHT
• Live in the United States or Canada
• Be diagnosed with a brain AVM, whether or not it’s been
treated
• Be 3 years of age or older
Participation
All that is required is a telephone conversation with the HHT
Foundation, documentation (letter of diagnosis/genetic testing
results, imaging, etc.), consent to have information used by the
principal investigator, and a saliva sample. You don’t have to
travel anywhere. There’s no cost to you.
To learn more about this study, visit the Rare Diseases Clinical
Research Network website at http://rarediseasesnetwork.epi.usf.
edu/BVMC/HHT-6203.htm.
The spray agents are: saline spray (placebo); Estriol (a low does
estrogen); Tranexamic acid (a drug that promotes clotting);
and Bevacizumab* (also known as Avastin, a drug that might
actually reverse abnormal blood vessel growth)
Requirements
• Able to travel to a participating HHT Center (U.S.) at
least two times
• Have moderate to severe nosebleeds according to the
Epistaxis Severity Scoring (ESS) tool
• Be 18 years of age or older
• Qualify based on a questionnaire conducted by the
research coordinator at a participating HHT Center
*The dose that will be used in the NOSE Study is 4mg per day, about 1% as
potent as the intravenous dose. We expect that side effects will be minimal.
To learn more about this study, visit www.clinicaltrials.gov and
search for NCT01408030.
A full list of HHT Centers participating in the Brain AVM Study and the NOSE Study, with research coordinator contact
information, can be viewed at www.hht.org (click on “Medical/Scientific” and “Clinical Research Trials”).
For more information about either study, please contact:
Cathleen Kinnear, HHT Foundation International, at (800) 448-6389 or cathleen.kinnear@hht.org
Volume 2 • 2012
DirectConnection 9
Pregnancy and HHT: What You Need to Know
By Marie E. Faughnan, MD, MSc, Director Toronto HHT Program, St. Michael’s Hospital, University of Toronto, Canada
Els M. de Gussem, MD, HHT Clinician, Respirology Division, Grace Hospital, University of Manitoba, Canada
women may benefit from additional monitoring and specialized
care during pregnancy and delivery, to reduce the risk of
complications. This can be also very reassuring for the mother
and the family, when there is higher risk.
As typical for rare diseases, there are not many studies published
about pregnancy and delivery in HHT. As such, there are no
clear guidelines for physicians to follow for care of pregnant
women with HHT. However, the published experience in the
last few years has been reassuring and can help dispel some of
the myths and concerns about risks for pregnancy in women
with HHT.
Myth #1: Women with HHT are at risk of excessive bleeding (from the
uterus) during or after delivery.
Pregnancy, labor and delivery may be a risky time for a woman
with HHT, but this doesn’t need to be. Most women with HHT
can have a normal pregnancy and delivery with no more risk
for complications than women in the general population. HHT
pregnancies are sometimes considered “high-risk”, but this is
not necessarily always the case…some women with HHT can
benefit from a “high-risk” clinic approach, but others don’t
really need this. The key is information and consultation with
an HHT expert, to help the pregnant woman make the best
decisions for herself and her baby.
Information is the key to helping women and their physicians
make the best decisions about their care. This means being
aware of the extent of the HHT in the Mother (her “HHT
footprint”) and planning accordingly, rather than simply
assuming that HHT is not a problem, or conversely assuming
that the pregnancy is high-risk due to the simple presence of
HHT. By the “HHT footprint”, we mean a conceptual map of the
abnormal vessels in someone with HHT, including everything
from telangiectasia in the nose to AVMs in the organs. The
HHT footprint is personalized, different in each woman with
HHT, and can change over her lifetime. Knowing the specific
HHT footprint in a woman should help guide pregnancy
planning and care. For example, if a woman’s HHT footprint
includes only telangiectasia in the nose and she has no abnormal
blood vessels in the organs, then there is no reason to think that
her pregnancy or delivery is high-risk. On the other hand, if a
woman’s HHT footprint includes lung AVMs, then several steps
and precautions need to be taken to minimize risk, and in some
cases this may be considered a high-risk pregnancy.
What does the term high-risk pregnancy really mean? First,
it doesn’t necessarily mean that the risks are extraordinary, but
rather that they are higher than in the general population. A
high-risk pregnancy is one in which some condition puts the
mother or the developing fetus, or both, at an increased risk
for complications during or after pregnancy and birth. These
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NO, there is no evidence of this. In fact, the experience is that
women with HHT are no more likely to bleed excessively at
delivery or after delivery than women in the general population
(ref Wain, Shovlin, Els).
Here’s why: People with HHT don’t have a clotting disorder. So,
they are not more likely to bleed with an injury, trauma or cut.
People with HHT bleed from parts of the body where they have
abnormal blood vessels (AVMs and telangiectasia). The uterus
is not a typical place for AVMs to occur in HHT, so there is no
reason to expect women with HHT to bleed with delivery.
Myth #2: Women with HHT can’t have an epidural.
NO, this is not the case. In fact most women with HHT decide
to have an epidural, or at least to have the option of having one.
There is no evidence of increased risk of complications.
Why is there concern? Many anesthetists and other doctors
are worried about the risks of epidural anesthesia in women
with HHT. Specifically, they are worried about puncturing
a spinal AVM when they insert the epidural needle into the
women’s lower spine. This worry stems from the knowledge
that approximately 1% of HHT patients can have AVMs in the
spinal canal. BUT, the vast majority of spinal AVMs in HHT are
much higher in the spinal canal than where the epidural needle
is usually inserted. ALSO, complications of spinal AVMs are
exceedingly rare in adults (most have come to attention during
childhood). In fact screening for spinal AVMs hasn’t been
routinely recommended in adults with HHT (unlike screening
for lung and brain AVMs) given how very rare they are in
adults. FINALLY, no case has ever been reported in the medical
literature of an epidural causing spinal bleeding in HHT. In
other words, if there is a risk, it is so low that no one has been
able to document a case or quantify the risk. On the other hand,
there is no study that has “ruled out” any risk of epidural in
HHT. For all of these reasons, we call it a “theoretical” risk.
If a pregnant woman with HHT wants the option of an epidural,
she should meet with the anesthetist prior to delivery and have
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a discussion about all the risks, including the “theoretical” risk
related to HHT. Many anesthetists will agree to proceed if the
woman understands the risks.
Myth #3: Women with HHT should have a cesarean section to avoid
bleeding and other HHT-related complications with labor and delivery.
There is no evidence to support this as a routine approach.
There are three main concerns that have led some doctors to
recommend cesarean section for women with HHT.
The first concern is that women with HHT might be likely to
bleed during or after delivery. This is addressed in Myth #1.
The second concern is that a brain AVM might be more likely
to rupture when “pushing” at delivery. There is no evidence that
this is the case, or that cesarean section is a safer alternative
to normal vaginal delivery in people with brain AVMs. This
situation needs to be handled on an individual basis. Screening
for brain AVMs can be performed in early third trimester with
an unenhanced MRI of the brain. If the MRI is negative (i.e. no
brain AVMs), then this is no longer a concern (90% of women
with HHT will have a negative MRI of the brain). If the woman
does have a brain AVM then her case needs to be discussed
in detail with a brain AVM expert and an obstetrician, and
likely should be considered a high risk pregnancy and delivery.
There may be some discussion about assisting the delivery to
reduced pushing or about a cesarean section, though there
is no good evidence that this is the safer approach. These
decisions will need to be made on a case by case basis, with all
the experts involved. If a brain AVM is diagnosed, the usual
recommendation is to treat within two or three months after
delivery. As such, since treatment will be delayed anyway, some
women opt to postpone the brain MRI till after delivery. This is
not unreasonable, but may leave the woman and her physicians
un-necessarily worrying about the possibility of brain AVMs,
and therefore considering it a “high-risk” pregnancy, whereas an
MRI would dispel this worry in 90% of women.
The third concern is that lung AVMs might be more likely
to rupture and bleed when “pushing” at delivery. There is no
evidence of this. However, lung AVMs do seem to be more
likely to rupture during pregnancy if untreated. Screening and
preventative treatment for lung AVMs should be done prior to
pregnancy, when possible. If lung screening is negative, then
lung AVMs are no longer a concern for pregnancy and delivery.
If the woman has lung AVMs and these have been successfully
treated (and recently reassessed), then lung AVMs are not a
concern for pregnancy and delivery, and the pregnancy need
not be considered high risk, though some precautions* should
be followed. If a pregnant woman has untreated lung AVMs,
treatment during T2 or T3, with embolization should be
considered, but only at an expert HHT centre. Once treated, the
lung AVMs are no longer a significant concern for pregnancy
and delivery. If lung AVMs are present but not treated, then the
pregnancy should be considered high-risk.
Volume 2 • 2012
Summary
For most women with HHT, the main problem is nosebleeds,
and though bothersome, this is not often a major concern
during pregnancy. Some women with HHT have a more
extensive HHT footprint, with AVMs in the brain or lungs,
which may be more concerning. However, with the right
screening, treatment and surveillance, most women with HHT
can have normal pregnancy and delivery, with no more risk than
women without HHT.
*Any patient with lung AVMs (treated or untreated) should follow
pulmonary AVM precautions, including antibiotics before any
procedures that can cause bacteria in the blood as well as an air
filter (bubble trap) any time they have an intravenous access.
References
1. Faughnan, M.E., et al., International guidelines for the diagnosis and
management of hereditary haemorrhagic telangiectasia. J Med Genet. 48(2):
p. 73-87.
2. De Gussem, E.M., et al., Outcomes of Pregnancy in HHT(Abstract).
Hematology Meeting Reports, 2009. 3(4): p. 10.
3. Gershon, A.S., et al., Transcatheter embolotherapy of maternal pulmonary
arteriovenous malformations during pregnancy. Chest, 2001. 119(2): p. 470-7.
4. Shovlin, C.L., et al., Medical complications of pregnancy in hereditary
haemorrhagic telangiectasia. QJM, 1995. 88(12): p. 879-87.
5. Shovlin, C.L., et al., Estimates of maternal risks of pregnancy for women
with hereditary haemorrhagic telangiectasia (Osler-Weber-Rendu syndrome):
suggested approach for obstetric services. BJOG, 2008. 115(9): p. 1108-15.
6. Wain, K., et al., Hereditary hemorrhagic telangiectasia and risks for
adverse pregnancy outcomes. Am J Med Genet A, 2012.
7. http://www.nichd.nih.gov/health/topics/high_risk_pregnancy.cfm
HHT runs in the family.
So can the Cure.
Establish a legacy that rewards future generations. Remember the HHT
Foundation in your will. Your children and grandchildren will thank you.
Call the HHT Foundation office at 800-448-6389 with any questions.
DirectConnection 11
Dental Community Taking Notice of HHT
By Nicole Schaefer, Director of Operations, HHT Foundation International
The HHT Foundation
has always known
that educating the
dental
community
is vital to increasing
the identification and
diagnosis of HHT.
Most people visit the
dentist twice a year,
therefore,
dental
hygienists and dentists
can be instrumental in
recognizing symptoms
of HHT, particularly
telangiectasias present in the mouth and the tongue.
Marianne Clancy, Executive Director of the HHT Foundation
International, earned a B.S. degree as a Registered Dental
Hygienist (RDH) and a Masters of Public Administration (MPA).
Prior to employment with the HHT Foundation, Marianne
founded a health care consulting company specializing in transdermal drug delivery and oral health care. Her “dental career”
spanned 14 years in national health care management with
Oral-B Laboratories, a Gillette Company, in addition to holding
faculty positions at Forsyth Dental Center, Boston University
and Tufts University School of Dental Medicine. Marianne’s
dental background, knowledge of HHT, and determination to
increase early diagnosis of the disease has kept her closely tied
to the dental community through the years.
We are excited to announce that, for the first time, HHT
was published in two dental hygienist magazines in April
and June 2012. These are prominent journals in the dental
hygienist community.
The Journal of Professional Excellence, Dimensions in Dental
Hygiene (April 2012), published “Detecting Hereditary
Hemorrhagic Telangiectasia – Dental Hygienists can improve
health outcomes by recognizing the first symptoms of this
genetic disorder” written by Sherri M. Lukes, RDH, MS.
The article states, “It has been 12 years since the release of "Oral
Health in America: a Report of the Surgeon General," which
stressed the relationship between oral and systemic health.1 As
a result, more dental professionals are collaborating with other
disciplines to address their patients' systemic health. Dental
hygienists should be on the front lines of helping patients manage
their general health in addition to promoting good oral health.
Frequent dental visits provide an opportunity for dental hygienists
to systematically follow patients' medical and dental histories,
which may help them recognize developing conditions, such as
hereditary hemorrhagic telangiectasia (HHT).
HHT is an extremely underdiagnosed condition, and without
accurate diagnosis and treatment, it can lead to serious morbidity
12 DirectConnection
and mortality. Unfortunately, HHT has not been reported much
in the dental or dermatologic literature. Most people with HHT
eventually present with telangiectasias (appearing as red to
purplish dots) on the skin of the hands, face, and mouth—
areas clearly noticeable during the dental appointment. Dental
hygienists can make a difference by noting these symptoms and
referring patients for accurate diagnosis and treatment before
serious health consequences ensue.”
The article continues by outlining the etiology, symptoms,
diagnosis, and treatment of the disease with references from
nineteen published HHT medical articles. Ms. Lukes identifies
the dental implications as “The dental hygienist is in an optimal
position to recognize the symptoms of HHT. Medical/dental history
forms should be updated at every recare visit. Health history
forms should include questions about frequent nosebleeds in both
patients and their family members. During patient assessment,
any telangiectasias occurring intraorally; extraorally; or on the
head, neck, or hands should be identified and documented.
Unfortunately, symptoms of other oral health problems may mimic
HHT oral lesions. Several lesions in the oral cavity, such as palatal
petechiae, which can have multiple etiologies, appear similar to
HHT oral lesions. The appearance of telangiectasias on the skin
can also be very subtle, and they may resemble cherry angiomas. If
HHT is suspected, the patient's health history should be reviewed
very carefully, with special attention paid to familial nosebleeds,
the addition of new lesions, and changes to any lesions noted
during the last visit.
When treating patients
with diagnosed HHT in
the dental office, stringent
assessment procedures
and
appropriate
documentation should
be implemented at
each recare visit. Many
patients with HHT need antibiotic prophylaxis before undergoing
any dental procedure that may produce bacteremia, such as oral
debridement. This is primarily due to problems from PAVMs, which
lack capillaries to filter the blood as it passes through the lungs,
allowing bacteria to travel to the brain—potentially producing a
cerebral abscess. If a patient with HHT has not had the appropriate
diagnostics test for pulmonary AVMs, dental treatment should be
delayed until testing is accomplished. Researchers have reported
cases of brain abscesses among patients with HHT who had teeth
extracted without antibiotic premedication. Premedication before
dental procedures is not necessary for patients who have AVMs in
other organs, but mandatory for those with AVMs in the lungs.
During treatment, patients with HHT should remain upright to
reduce the risk of nasal bleeding. Anti-inflammatory drugs, such
as ibuprofen, naproxen, and aspirin, should be avoided due to the
increased risk of bleeding. Oxygen should be readily available, and
Volume 2 • 2012
blood pressure should be monitored before and after treatment.
The purview of dental hygienists is expanding to include risk
assessment and systemic health promotion. The ability to recognize
symptoms and safely treat patients with HHT supports the role of
the dental hygienist as a knowledgeable and effective health care
provider.”
In conclusion, Ms. Lukes references a medical case study
where a 57-year old male patient was diagnosed with HHT
by a dental hygienist/dentist using the Curacao Criteria. The
diagnosis came after 30+ years of misdiagnosis by multiple
specialists.
The full article can be read at http://www.dimensionsofdental
hygiene.com/ddhright.aspx?id=13035. Your dentist, dental
hygienist, and dental assistant can earn 2 CEUs (Continuing
Education Units) after reading the article. What a great way
to increase HHT awareness and give your dental professional(s)
access to an accredited learning program.
RDH (Registered Dental Hygienist) (June 2012) published
an article titled, “Connect the Cherry Red Dots – check for
HHT before recommending oral irrigating devices”, written
by Valerie Chambers, RDH, BS.
presented in the dental office where the author works as a
dental hygienist. Two of the criteria for HHT were observed.
The patient was referred to Dr. McWilliams (Director of the
HHT Center at UCLA) for an evaluation.”
The full article can be read at http://www.rdhmag.com/articles/
print/volume-32/issue-60/features/connect-the-cherry-reddots.html.
The HHT Foundation would like to thank Sherri Lukes and
Valerie Chambers for recognizing the importance of HHT
awareness and education in the dental community. We truly
appreciate their willingness to research HHT medical articles,
contact the HHT Foundation, and take the time to write these
two very important articles.
Now it is time for YOU, the HHT patient, to do something Provide these articles to your dentist office. Not only will you
teach them how to recognize HHT but they will learn about the
implications of early diagnosis (which is preventing needless
tragedies or years of suffering) and the resources available to
HHT patients (HHT Foundation website, www.hht.org, and the
HHT Treatment Centers).
Ms. Chambers explains that her daughter-in-law was recently
diagnosed with HHT and as she researched the disease she
realized that the condition has the potential to be initially
screened in dental offices. “The purpose of this article is to brief
dental hygienists on significant symptoms easily visible during oral
cancer exams and how to quiz patients regarding an additional
symptom that may or may not be directly asked on the medical
history questionnaires, which can link patients to this disease
entity.
The medical history questionnaire used in my dental office is fairly
standardized, and for a statement regarding bleeding problems
it simply asks if there are any “bleeding disorders.” How many
hygienists ask a patient about nosebleeds when the patient gives
a positive response to bleeding disorders? Or how many hygienists
ask about a family history of nosebleeds, or examine the frequency,
spontaneity, or duration of nosebleeds? I admit I was negligent
and uninformed about the severity of this symptom. Now I realize
it can be a direct link to a hemorrhagic disease called hereditary
hemorrhagic telangiectasia, or HHT. Recognizing this symptom
in the dental office can be an important diagnostic tool and can
mean the difference between life and death to a segment of our
population, including children.”
Ms. Chambers provides detailed characteristics of HHT, outlines
the risks associated with multiple organs if HHT is untreated,
and she discusses prophylactic antibiotics. The need to raise
HHT awareness and the role that a dentist office can play in
early diagnosis of HHT was exemplified by the point that “The
day this article was submitted to RDH magazine, a patient
Volume 2 • 2012
DirectConnection 13
HHT Q & A Corner
The HHT Foundation receives questions on a daily basis through our website. Below are the answers to some of the most
commonly asked questions answered by Medical Director, Dr. James Gossage.
What is Pulmonary Hypertension?
Pulmonary Hypertension (PH) is basically high blood pressure
in arteries of the lungs, as opposed to high blood pressure in
the arms and legs. The pulmonary artery is a blood vessel
carrying oxygen-poor blood from the right ventricle (one
of the heart’s pumping chambers) to the lungs. In the lungs,
the blood picks up oxygen and then flows to the heart’s left
side, where the left ventricle pumps it to the rest of the body
through the aorta.
In patients with PH, the mean (average) blood pressure in
the pulmonary artery is greater than 25mm Hg at rest. This
abnormally high pressure is linked with thickening of the walls
of the small blood vessels in the lungs. These changes increase
resistance to blood flowing through the vessels which forces
the right ventricle to work harder than usual to move enough
blood through the lungs – potentially resulting in congestive
heart failure.
Many pulmonary hypertension patients are diagnosed with PH
in association with one or more related conditions. About 15
to 20 percent of people with HHT have at least mildly elevated
pulmonary artery pressures, which means they either have
or are developing PH. HHT patients can develop PH in two
ways and the differences are significant. Treatment will vary
depending on what type of PH you have.
a. In HHT-associated pulmonary arterial hypertension,
abnormal blood flow through the blood vessels in the
lungs causes elevated blood pressure. While it is not
known exactly how many people have HHT-associated
PAH, research has identified one affected member in
15 percent of families with a form of HHT known as
HHT2. In another type of HHT, known as HHT1, HHTassociated PAH appears to be much less common.
b. More commonly, PH can develop in HHT patients as a
result of increased blood flow from the heart, a condition
called high cardiac output state. A high cardiac output
state may be related to gastrointestinal (GI) AVMs, liver
AVMs, and/or severe anemia. PH can also occur in HHT
patients in the absence of these other issues; in this case
it usually occurs in ALK1 (ACRVL1; HHT2) patients.
The symptoms of PH include shortness of breath, fatigue, leg
swelling, lightheadedness, and loss of consciousness.
14 DirectConnection
I had a PAVM embolized 12 years ago. Do I need to
check my lungs again?
It is recommended to have a repeat CT scan 3-12 months after
embolization and then every 3 to 5 years. This is because AVMs,
that were successfully embolized can open up again in about
10% of cases and new AVMs, may also develop over time.
Can a four year old boy have a stroke?
HHT can cause strokes by 2 mechanisms: 1) bleeding into the
brain from rupture of a brain AVM and 2) blockage of a brain
artery by a clot that passed through a pulmonary (lung) AVM.
There have been a number of reports of ruptured brain AVMs, in
children, and thus it is very important to screen all HHT children
for brain AVMs before the age of 1, if possible. Strokes from lung
AVMs, are much less common in children than in adults, but ageappropriate screening at an HHT Center is still recommended.
Why do I have pain in my lungs two months after
embolization?
It could be from pleurisy (an inflammation of the lining around
the lungs, associated with sharp chest pain upon breathing
in) following a recent coil embolization of PAVMs , or due to
reperfusion (the restoration of blood flow to an organ or) of an
AVM that was embolized in the past. The latter is uncommon,
especially if the embolization was done by an HHT treatment
center, but it can occur. You should consult your physician for
further explanation.
My dentist says that I don't need antibiotics. Is that
correct?
Some dentists say this because the guidelines for prophylaxis of
heart defects has recently changed. However, the recommendations
for prophylaxis of PAVMs has not changed. If you have treated or
untreated PAVMs, or if you do not know if you have PAVMs,
then you should use antibiotic prophylaxis before most dental
procedures, including cleaning. This is to prevent bacterial growth
in the bloodstream after a dental procedure and the development
of a brain abscess.
What is a normal Ferritin Level?
Ferritin is a protein in the body that stores iron and releases it to
the bloodstream in a controlled fashion. The amount of ferritin
reflects the amount of iron stored in the body. In humans, ferritin
acts as a buffer against iron deficiency and iron overload. The
normal ferritin level differs for men and women, and from lab to
lab. In general, levels greater than 10-12 ng/ml (nangograms per
milliliter) for men and 17-22 ng/ml for women are normal. The
lower the ferritin level, even within the "normal" range, the more
likely it is that the patient does not have enough iron.
Volume 2 • 2012
From the MEMBERSHIP DESK
SUMMER MEMBERSHIP MANIA
Mary Leigh Krock
Manager, Member Services
HHT Foundation International
We all know someone with HHT in our family; it is genetic after all. But not all of our family members
are willing to acknowledge the disease and some of them have children who are more than likely affected
by HHT too. OUR family members in denial - these people are the ones at greatest risk. YOU can
impact their quality of life, and that of future generations, by giving them a gift membership to the HHT
Foundation.
A Gift that Lasts All Year Long (even if it's to yourself) . . .
It is so important for people with HHT to join with others who have a personal stake in HHT advances.
Many of the 90% unidentified with HHT are our very own family members! Gift a membership for $20.00 or join as a first time new
member between July 1 and Labor Day. Visit the HHT Foundation website, www.hht.org, or call 800-448-6389 TODAY!
MEMBERS ONLY can look forward to:
• HHT Monthly News Bulletins
• Direct Connection, a tri-annual newsletter full of medical, scientific, support, and advocacy information.
• Reduced registration fees at regional and national patient conferences
• Discounted prices on MedicTags, MedicAlert, and Conference DVDs while supplies last
• Time sensitive notifications concerning legislative advocacy, clinical trials, and late-breaking HHT News.
Nobel Prize Winning Scientist, Eric Cornell, Talks about HHT
and the Foundation
A few months ago I finally realized one of my long-term
fitness goals, when I ran a local road race in "fewer minutes
than I am years old". As fitness goals go, mine was not very
ambitious. Mostly it was about surviving to be old enough that
the necessary race time becomes relatively easy to achieve. As
it turned out, during the race I had a minor nose bleed, no big
deal to a guy with HHT, not worth stopping my race for, but it
did mean I was not very presentable when
the racecourse photographer snapped my
race photo! The nose bleed, while merely an
inconvenience, was also a reminder to me
that "just surviving" isn't something to be
taken for granted.
HHT has cut a pretty broad swath through
my family. From my great grandmother
down through my children’s generation,
there are about 20 of us who’ve had HHT.
All of us have experienced aggravation from
the condition; some of us have had severe
illnesses; a few of us have had lives cut short.
There's a well-established (and so far, not
well understood) correlation between HHT and certain very
rare bacterial infections. I may never know for sure, but it is
likely that my HHT-caused lung shunts made it easier for some
bacteria to become lodged deep in my muscle tissue back in
2004. Certainly there was not even a scratch on my skin, much
less a puncture wound, near the site in my shoulder joint where
my necrotizing fasciitis first began. The rapid spread of this
so-called "flesh-eating bacteria" plunged me into septic shock
Volume 2 • 2012
and ended up costing me my left arm and shoulder before I fully
recovered, many months later.
All the same, neither I nor anyone else in my extended family
thinks of HHT as the thing that defines us. We’re an energetic,
active, physically fit, even athletic bunch. As a group, we’re
healthy most of the time. Dealing with our HHT is not what we
do in life – we’ve got a lot more interesting stuff
going on.
“I’m glad to know that the HHT Foundation
International is out there, working the HHT
issue for us.” When one has a hereditary medical
condition, knowledge is power, and I think of the
Foundation as the power plant for HHT families.
Creating knowledge, through research, collating
the knowledge through sponsored conferences,
and spreading that knowledge around through
outreach, the HHT Foundation is the source
of the power we need to hold this troublesome
condition at bay while we all go on to do the
stuff in life we care about. In my case, that
means raising a family with my wife, at home,
and working in an atomic physics laboratory, at work!
My wife and I have contributed regularly to the Foundation for
many years. I hope that’s something you would consider doing
as well.
Eric Cornell is a staff scientist at the National Institute of Science
and Technology and a physics professor at the University of
Colorado, Boulder. He won the 2001 Nobel Prize in Physics.
DirectConnection 15
Safe Harbor, My Story with HHT
By Chelsea Ames Lewis
As your overcome adversity in your life, you will
become stronger. Then you will be better able
to help others- those who are working in their
turn, to find a safe harbor from the storms that
rage about them," Joseph B. Wirthlin, "Finding a
Safe Harbor" Ensign, May 2009, 59.
My family and I had long been in search of a safe harbor,
for answers and understanding. My symptoms with HHT, or
Hereditary Hemorrhagic Telangiectasia, began as early as three to
four years of age. During this time, I began experiencing severe
nosebleeds and changes in sleep due to what my family doctor
determined as "inner ear infections". My family couldn't help but
to notice the cherry-red mark, a telangiectasia, on my cheek that
we called my "spider-mark". Nathan, my younger brother also
began having nosebleeds, often times worse than mine. My mom
had to change our pillowcases almost nightly, including stuffing
our backpacks and pockets with tissues in case of an accident.
Feeling like a ship lost at sea is a trial in life to gain direction. Yet,
each issue that continued without answers was like a small hole in
our ship, and we were taking on water.
16 DirectConnection
In addition to awful headaches, I developed shortness of breath,
but I loved to sing, and I sang everything! However, simpler dayto-day tasks would be a burden. I can remember I hated when
my Mom fussed over my hair or used hairspray because I got
unusually dizzy and nauseated. I would have to sit as she fixed
my hair for school crying out that, “I can't breathe!". I would tell
my mom that same line for many reasons into the years, beyond
hair-doing. My headaches persisted into Elementary School
and Junior High when I racked up so many sick days that I was
getting called into meetings with the school office with my mom
to verify my sick days and explain I might not be passed into the
next grade, even though I remained a good student. Teachers,
friends, and family ended up thinking I was faking my sickness, a
hypochondriac, or they would blame it on my parent’s separation.
No one really had the right answers.
My battle with fatigue only got worse in my teen years when
"asthma" would interfere with my singing, school, and fun.
Physical Education was my hardest subject in school - and the
new diagnosis couldn't always save me from running the horrible
timed mile alongside my peers. I would feel like I was suffocating,
like I was underwater, and couldn't get enough air to fill my
lungs before feeling so dizzy I would turn blue. This was a time
when my little ship felt like it was sinking, while at home we were
dealing with my mom's car accident.
My mom, Susie, had a horrible car accident. It was a nightmare, a
tempest I couldn't escape. I recall holding onto my little brother,
both being so scared and confused as to what would happen.
Volume 2 • 2012
Maybe this is similar to what Christ's apostles felt, when at sea a
storm rages about them, and they are frightened and asked the
Master, "carest not that we perish?" for he was asleep on a pillow
(Mark, 4:35-41). All we knew to do was pray in our times of trial
and hardship for strength, understanding, and courage to best
the storm that may rage about us, and trust the Master. My mom
survived; but it took her liver being severed, emergency surgery,
numerous pints of blood, two catheters, and a year and a half of
recovery. My mom's unexplained mysterious accident that didn't
involve any other vehicles finally had an answer: she had a seizure.
A seizure that would define all of our courses.
For these storms of life, I had to enjoy blue skies and moments
of joy with family, friends, and activities like singing...something
that lifted me up. My passion for music continued when as a
sophomore i got accepted into an
Arts Academy as a Vocal Major! My
choir director noticed early on that
I was taking extra breaths on lines
of music, or breathing too early on
long notes. He worked with my
breathing support, and correcting
me on these flaws. A lot of his
hard work and patience was like
therapy, the first help I ever received
for my sore lungs. Yet, the spring
of that year I went home sick, a
very intense headache. After days
of being violently ill, unable to get
out of bed, my mom phoned my
primary doctor who via phone
determined I had meningitis. This
is a bacterial infection that can
occur rather quickly, and inflames
the coverings of the brain and spinal
cord and I had all of the signs except
seizures. This went on for about two
weeks and finally resolved through the grace of God. Just a few
weeks later, my day began with a fainting spell, and ended with me
in the emergency room. My doctors questioned why this healthy
looking girl was fainting, but as soon as my mom explained she
had seizures their faces lit up. They sent me off to CT and MRI
scans as my family waited, a ship with no wind.
Back from all my tests we finally received an answer to the
unexplained white spots on my brain. They were ArterioVenous
Malformations, or AVM's. I had had a small hemorrhage on
my brain those weeks ago when I had "Meningitis", now a false
diagnosis. Yet, the bleed had resolved itself and no surgery would
be necessary...yet. That year my family and I discovered my brain
AVM's and pulmonary AVM's, and learned a little about HHT. All
of these little issues I went through as a child we're linked to this
disorder. My issues with headaches were brain and lung AVM's,
sleep problems were pre-seizure symptoms, and the PAVMs in
my lungs stopped me from getting enough oxygen into my system
causing shortness of breath and fainting. The red mark, now gone,
was a telangiectasia. A doctor who was educated on HHT could
have recognized that from early on. Yet, my doctor in California
knew little about HHT or that it was a hereditary disorder. No
one else in my family was tested. Our struggle with the disorder
Volume 2 • 2012
hit us hard in 2008 when my little brother, sixteen at the time, had
emergency brain surgery. I was the first person to arrive at the
emergency room and the team asked me what our family medical
history was.... It hit me. I knew it was an AVM. I told them I had
brain malformations and they rushed my brother into scans.
Confirming what I already knew in my heart, he had a ruptured
brain AVM. We had no idea Nathan had HHT, he was never
tested! He had to be in a medicated-coma for almost three weeks,
a very arduous recovery of about two years to feel "normal". It still
brings tears to my eyes. We almost lost him; I almost lost one of
my best friends. He is back to hilarious Nathan, though we joke
about "normal".
I am now twenty-three and just got married this past October
to my other best friend Bryce, a United States Marine. We
were sealed in the Church of Jesus
Christ of Latter Day Saints, Saint
George, Utah temple. Just this year
I found out through the assistance
of my wonderful genetic counselor,
Jamie McDonald at University of
Utah HHT Center in Salt Lake City,
that the genetic tests can be done
for this disorder. The doctors now
have the knowledge to find, locate,
and determine what type of HHT
you and I have. This knowledge
will provide you and your family
with medical knowledge that could
prevent tragedies or save a life! The
University of Utah has organized an
amazing team for ME and overseen
each procedure and step in helping
me be healthy and hazard free. Those
procedures include five pulmonary
embolization procedures to coil
over twenty PAVM's that caused
quite a few complications that shouldn't have happened like a
DVT (deep venous thrombosis: a blood clot affecting my right
leg), pulmonary embolisms or PE's, pneumonia, momentary
kidney failure, etc., etc., etc.. Among those I also had an AVM
hemorrhage on my brain which had to be corrected through brain
surgery this May. Fourteen PAVM'S down, six to go; two brain
AVM's down, seven to go! You may think, how in the world...!? I
do not have a sufficient answer other than God's creations. This
disorder could very well have swallowed me whole, but I could
not let it control my life, I would have sunk earlier on.
Let us do what we can and fight to get doctors and our
communities educated and aware now! Let's not wait sixteen
years, or any years for that matter, because we don't always know
what tomorrow will bring. We can start with our own circles,
communities, and businesses to bring education and awareness
to this genetic disorder, together. I might have numerous people
in my family, who have yet to be tested, and I have to reach out to
them, it's just one foot in front of the other. We can provide our
knowledge, our stories, our love, and our understanding.
Together we can all be in that safe harbor!
*Wedding photos courtesy of Malea Ellett Photography
DirectConnection 17
Genetic Testing Options for HHT Families
By Steven Keiles, Director of Genetic Services, Ambry Genetics
and SMAD4 has been available for several years and most
families that have undergone this testing have been able to
identify the mutation causing HHT in their family. However,
current testing is not successful in finding the mutation in all
families. That is most likely because there are other genes that
can cause HHT and we do not know about them yet. Well, now
new technologies are available to potentially allow these families
to find the gene causing the disease in their family. The new
technology is called Next-Generation or next-gen sequencing.
This allows for rapid analysis of multiple genes at a considerably
lower cost compared to traditional sequencing techniques. This
technology has brought affordable, exome sequencing to the
clinical setting. It is called Clinical Diagnostic Exome™ testing
and it is available through Ambry Genetics.
As you already know, Hereditary Hemorrhagic Telangiectasia
(HHT or Osler-Weber-Rendu Syndrome) is an autosomal
dominant disorder of blood vessel formation affecting 1/5000
people. (1,2) This means that a single mutation in one of
several genes is responsible for passing on the condition from
generation to generation.
Currently there are 3 genes known to cause HHT. Mutations in
the endoglin gene (ENG) cause HHT type 1, which has a high
prevalence of pulmonary AVMs.(1) Mutations in the activin
receptor-like kinase 1 gene (ACVRL1 or ALK1) cause HHT
type 2, which causes fewer pulmonary and cerebral AVMs than
type 1 but more hepatic AVMs.(1) Each of these two genes is
responsible for approximately 30-40% of HHT cases.(1,3) Full
gene sequence analyses with gross deletion/duplication testing
of both genes detects mutations in 80-85% of patients.(1,4,5,6)
The SMAD4 gene accounts for an additional 2-3% of cases of
HHT and adds juvenile polyposis to the phenotype in most
cases.(7,8)
The current testing options include concurrent sequence analysis
of the ENG and ACVRL1 genes with reflex testing to gross
Deletion/Duplication Analysis of both genes if no mutation is
found by Gene Sequence Analysis. SMAD4 sequence analysis
can be ordered separately or in any combination with ENG and
ACVRL1 as indicated.
There are several very important and potentially lifesaving benefits resulting from genetic testing. This includes
confirmation of a diagnosis of HHT in symptomatic individuals.
This would then enable determination of disease status in
at-risk family members which would allow for early detection of
AVMs as well as an opportunity for management to prevent or
minimize complications of HHT.
What if your family gene mutation couldn’t be detected?
Genetic testing to include sequence analysis of ENG, ACVRL1
18 DirectConnection
What is the exome? The exome is the part of your genome
formed by exons, or the coding portions of the genes that are
expressed. The exome is the most functionally relevant part
of the genome and most likely to contribute to the cause of
genetic disease. It is believed that up to 85% of disease causing
mutations would be found in the exome.(9) By testing your
entire exome we can examine the DNA for virtually all protein
coding regions of the genome—each and every exon of ~20,000
human genes. Not only do we sequence these regions, but this
test provides analysis and medical interpretation of findings.
Clinicians receive a test report, similar to most other genetic
tests, reporting each mutation or sequence variant likely to
contribute to the clinical presentation.
Any individual with a clinical diagnosis of HHT for whom
standard sequencing and deletion duplication testing for the 3
known genes was uninformative could benefit from this testing.
As a standard and without an increased cost, Ambry performs
Clinical Diagnostic Exome™ sequencing for multiple members
of families in order to find a more precise answer for the
patient within a shorter turn-around time. By testing multiple
family members, Ambry is able to provide a more complete
interpretation and analysis to all of the variants identified in
that family making the positive detection rate much higher.
All genetic testing must be ordered by a physician. For more
information about this testing you can visit http://ambrygen.
com/exome-qa.
1 Prigoda NL et al. J Med Genet. 2006;43:722-728.
2 Marchuk DA et al. Am J Hum Genet. 1996;59:95-102.
3 Bayrak-Toydemir P et al. Genet Med. 2004;6:175-191.
4 Lesca G et al. Genet Med. 2006;27:598.
5 Schulte C et al. Human Mutat. 2005;25:595.
6 Cymerman U et al. Human Mutat. 2003;21:482-492.
7 Gallione CJ et al. J Med Genet. 2006;43:793-797.
8 Gallione CF et al. Lancet. 2004;363:852-859.
9 Choia, M et al. PNAS. 2009:45 106: 19096-19101.
Volume 2 • 2012
LEGISLATIVE UPDATE
HHT DAY on Capitol Hill
By Roy Forey, HHT Foundation Board of Director
On June 22nd, as part of HHT Awareness month, six people
from Virginia, Pennsylvania and Georgia came to Capitol
Hill to meet their representatives. Scarlet Howard and her
daughter Jessica came from Ellijay, Georgia. Kathy Zellefrow,
daughter Suzie, and Board member Jack McMahon came from
Lancaster County Pennsylvania, and Jessie McQuillen came
from Bluemont, Virginia.
With heat and humidity near 100 degrees it proved to be
an exhausting day but it did not diminish the commitment
everybody made to share their personal experiences of HHT.
Kathy spoke about being misdiagnosed for 48 years and her
37 embolization procedures! Scarlett recalled how her father
was diagnosed with Hemophilia because the doctors “knew no
better”! Jessie spoke of her mother who died in October 2011, at
58 years of age, from HHT.
“On June 22, I joined Roy
Forey and several other
people with HHT on Capitol
Hill in Washington DC to
meet with staff members
for Senators to discuss the
HHT bill (H.R.2123 and
S.1167). The day was very
successful and I believe with
all my heart that the bill will
pass. It is really frustrating
to watch your loved ones suffer from a disease that doctors don’t
recognize or know how to treat. I have a vision that one day HHT
patients will be able to walk into any hospital or doctor’s office
across America and be easily identified as an HHT patient from
their symptoms because we have educated them. My hope is this
will prevent others from losing their loved ones like I lost mine. I
know my mom is looking down on me smiling because I am fighting
the battle. Don’t worry mom, I won’t give up”.
Currently, we have 34 Representatives signed onto H.R. 2123
and 11 Senators on S. 1167. I will be following up with all of the
staffers we met on June 22nd but it would really help if these
offices received lots of emails in the coming weeks. If these
are your Senators or House Representative, PLEASE SEND
THEM A PRE-WRITTEN EMAIL TODAY! Simply go to
http://video.hht.org/capwiz.html.
Senator Chambliss (GA)
Senator Isakson (GA)
Senator Warner (VA)
Senator Webb (VA)
Jessie summed up the day for all of us with her vision for the
future.
Senator Casey (PA)
Senator Toomey (PA)
Representative Pitts (R-16th PA)
Representative Graves (R-9th GA)
Is Your Congressman/woman on the List? IF NOT, YOU NEED TO CHANGE THAT!
HHT Diagnosis and Treatment Act 2011
Senators Goal: 35 Co-Sponsors
Sponsor - Sen. Tim Johnson (SD)
1. Sen. Jeff Bingaman (NM)
2. Sen. Ben Cardin (MD)
3. Sen. Daniel Inouye (HI)
4. Sen. Barbara Boxer (CA)
5. Sen. Richard Blumenthal (CA)
6. Sen. Debbie Stabenow (MI)
7 . Sen. Charles Schumer (NY)
8. Sen. Kirsten Gillibrand (NY)
9. Sen. Christopher Coons (DE)
10. Sen. Mary Landrieu (LA)
Volume 2 • 2012
House of Representatives Goal: 100 Co-Sponsors
Sponsor - Rep. Elton Gallegly (CA-24)
1. Rep. Howard Berman (CA-28)
2. Rep. Hansen Clarke (MI-13)
3. Rep. Howard Coble (NC-6)
4. Rep. John Conyers, Jr. (MI-14)
5. Rep. Gerald Connolly (VA-11)
6. Rep. Mark Critz (PA-12)
7 . Rep. Rosa DeLauro (CT-3)
8. Rep. Charles Dent (PA-15)
9. Rep. Sam Farr (CA-17)
10. Rep. Barney Frank (MA-4)
11. Rep. Marcia Fudge (OH-11)
12. Rep. Jim Gerlach (PA-6)
13. Rep. James Himes (CT-4)
14. Rep. Jesse L. Jackson, Jr. (IL-2)
15. Rep. Eddie Bernice Johnson (TX-30)
16. Rep. Dale Kildee (MI-5)
17 . Rep. Nita Lowey (NY-18)
18. Rep. Carolyn McCarthy (NY-4)
19. Rep. Thaddeus McCotter (MI-11)
20. Rep. Candice Miller (MI-10)
21. Rep. James P. Moran (VA-8)
22. Rep. Christopher Murphy (CT-5)
23. Rep. Eleanor Holmes Norton (DC)
24. Rep. Ed Pastor (AZ-4)
25. Rep. Gary Peters (MI-9)
26. Rep. David Price (NC-4)
27 . Rep. Mike Ross (AR-4)
28. Rep. Allyson Schwartz (PA-13)
29. Rep. Jackie Speier (CA-12)
30. Rep. John Tierney (MA-6)
31 . Rep. Frank Wolf (VA-10)
32. Rep. David Wu (OR-1)
33. Rep. C.W. Bill Young (FL-10
DirectConnection 19
LEGISLATIVE UPDATE
This year I attended the
HHT Day at our Nation's
Capital for the first time
because I wanted to make
sure Georgia Representatives
were aware of HHT and that
no one would have to go
through what I have gone
through.
I had a big scare the week
before I went to Washington,
D.C. I had a six hour nose
bleed, two hours of which
were at a local hospital
emergency
room.
I
remember watching my family try to explain my disorder to the
emergency room doctor. The doctor was literally panicking and
didn't know what to do, wouldn’t really listen to what we were
saying, and would not call Augusta’s HHT Center of Excellence
to talk to Dr. Gossage to get help because he wanted to "fix the
bleed". At that time, I felt very helpless and scared. I thought I
could actually bleed to death. Fortunately, I ended up taking a
private plane to the Augusta HHT Center of Excellence and had
surgery there. It's a blessing to have an HHT Center in my state.
After that ordeal, I knew I had to become much more active
in educating doctors, nurses, all health care providers, and my
Members of Congress about HHT. I'm almost fifty years old
and I was only diagnosed with HHT three and a half years
ago. I had a very large PAVM in my lung. The interventional
radiologist was about to take a biopsy of my lung but luckily he
hesitated and instead did a CT scan. After seeing the CT scan,
he came back in my room and asked me if I had ever heard of
a disorder called Osler-Weber-Rendu Syndrome. He told me he
was very happy he didn't do the lung biopsy. It could have gone
the other way and I would not be writing this letter and that
really frightens me. How many people have died that could have
been saved?
When we met with the two Senator’s staffers, they were very
gracious and I think they would love to help us. I was told that
it’s the people who make the loudest noise that are heard. We
need to keep HHT in front of them from now until the day
the HHT Diagnosis and Treatment Act is passed. I intend on
keeping our Senators in Georgia informed with all that is going
on with HHT and the people whose lives are affected by this
disorder.
I have so much to be thankful for. I'm here for my three girls and
my husband by the grace of God so I need to give something
back and I can't think of any better way than working to prevent
any more needless deaths. Please join me in advocating for
HHT. It doesn't have to be big. It can be as simple as an email to
our Senators and House Representatives of this great nation. If
we keep HHT in front of them, it's pretty hard for them not
to do what’s right.
I want to give a special thanks to Roy Forey. He is a "peach" as
we say in Georgia and most unforgettable. He is a true gift to us
and we are so lucky to have him in Washington D.C. working so
hard for HHT.
As Roy would say, “Cheers.”
Scarlet R. Howard
ACT NOW! Before it is too late.
By Sharon Williams, Legislative Advocacy Manager, HHT Foundation International
The HHT Diagnosis and Treatment Act (DATA) has continued
to gain support in the Senate and House of Representatives as
more individuals have contacted their legislators to advocate
for HHT. We have a total of 11 Senators and 34 House
Representatives that have signed on as Co-Sponsors. (A list
of current Co-Sponsors can be viewed at www.hht.org under
the HHT Foundation Legislative Advocacy section.)
DATA (H.R. 2123 and S. 1167), introduced in June of 2011,
will authorize $5 million for the next 5 years to improve early
detection, screening, diagnosis, and treatment of HHT. We
have until the end of December 2012 to get this bill passed or
we will have to start over again!
We now have over 500 individuals that have advocated for
HHT by contacting their legislators. Thank you! That’s about
17% of our HHT member population. Just imagine how loud
20 DirectConnection
our voice would be if we had 100% participation. If you have
not let your voice be heard yet, please do so now!
The HHT Foundation has a new tool called CAPWIZ
that makes legislative advocacy easy for you! Simply type
http://video.hht.org/capwiz.html into your web browser. The
message is already composed for you. All you have to do is
enter your contact information so the software can identify
your legislators; then hit the send message button. IT TAKES
LESS THAN 2 MINUTES!
We can’t do this alone. We need the help of your friends and
family to get this bill passed. It’s all about numbers…. They
count how many people contact each Senator and House
Representative. After you send your email, click on “Tell a
Friend” to send this request to other friends and family and
ask for their support in this important cause.
Volume 2 • 2012
FUNDRAISING
UPDATE
SCIENTIFIC AND
MEDICAL UPDATE
HopeCrew continues efforts to raise
HHT awareness in Southeast Michigan
Jody Nissan leads a group of volunteers known as the HopeCrew. These friends of the
Nissan family are determined to raise awareness and money for the HHT Foundation
so that her husband and two of her three children, along with thousands of other
families around the world, don’t have to suffer from this disease any more.
Walk-a-thon for HHT – Canton, MI
A Walk-A-Thon was held at All Saints Catholic School (ASCS) in Canton,
Michigan on May 7th. More than 500 All Saints students showed their support
for the Nissan Family and the HHT Foundation. Over $12,000 was raised to
be donated to the HHT foundation in the fight for increased awareness and a
cure. According to Jody Nissan, “The school had somebody walking all day in
support of HHT. Each class had a scheduled time to walk. They also had my kids
go to each class to discuss HHT with all of the students. This created an amazing
amount of support for my kids as well as awareness for HHT. The impact this
day had on the kids and our family will last forever! It was a day filled with love
and support that will be remembered forever by our family. 500 people are now
wearing HHT bracelets and T-shirts to support our fight. This brings hope and
courage to keep fighting for that cure, knowing you are supported by your school
community.”
Thank you to all ASCS Staff, including teacher Jessica Lopata who chaired
the event and Kristen Strausbaugh, Principal, for making this event possible.
And a BIG thank you as well to all families and students who participated in
supporting the Nissan family and finding a cure for HHT.
2012 HHT Bowl-A-Thon – Troy, Michigan
Troy Lanes in Troy, Michigan was the place to be on Friday, May 18th, as the
Anzell family hosted a bowling event for HHT. The evening began with a quick
speech from Kim and Roy Anzell thanking everyone for their support and a
viewing of the video, More Than A Nosebleed: HHT. The evening began with
everyone bowling two or three games while enjoying pizza and beverages. In
addition to the bowling fun, there were two 50/50 drawings and raffles for
many gift baskets. It was a great event.
3rd Annual HHT Golf Outing – Macomb, MI
On June 1, 2012 the Our Hope Holds the Cure crew managed to have another
successful golf outing at Sycamore Hills Golf Club in Macomb, Michigan
despite the rain. Thank you to all of the guests that attended and the volunteers,
especially Jeff Babisz and Jeff Paquette, who gave their time and energy to the
cause. Because of you, the event successfully raised over $16,000.
Detroit Tiger Game Day – Detroit, MI
On Saturday, May 19, 2012, the Our Hope Holds The Cure crew turned out for
a baseball fundraiser at Comerica Park in Detroit, Michigan, where the Detroit
Tigers battled the Pittsburgh Pirates. The Pirates won that day 4-3 versus
our beloved Tigers, but that didn’t ruin the day for all of us in attendance.
Everywhere you looked, you saw friends and family that were supporters of
our cause, to find a cure for HHT. It was a wonderful day at the ballpark.
Volume 2 • 2012
DirectConnection 21
FUNDRAISING UPDATE
Bay to Breakers Race – San Francisco, CA
The HHT Foundation salutes Greg
Brown for running in the San
Francisco Bay to Breakers Race
on May 20th. HHT has severely
affected Greg and his family.
According to Greg, "I ran the race
in under two hours - which is
a record for me. Along the way
people stopped me to ask about
my tee-shirt. It is great to be able to
tell people about HHT and spread
awareness while raising money to
find the cure. My wife tries to get
me involved with a fundraiser at least once a year and it is a
really fulfilling experience to know that I am doing something
positive to help all people afflicted with HHT. If I can be a part
of fundraising for the cure, that is the biggest and best gift I
can give my children who also have the disease.” Thank you to
everyone who made a donation in honor of Greg Brown and
his family; he was able to raise $2,615 to help find a cure.
3rd Annual Stoner Open - Kresgesville, PA
On Sunday, May
20th,
the
Third
Annual Stoner Open
to benefit the HHT
Foundation took place
at Hideaway Hills Golf
Club in Kresgeville,
Pennsylvania. Thanks
to the tireless efforts
of Steven Stoner, the
Stoner Family, and friends of the Stoner Family, 128 golfers
enjoyed an afternoon of golf, food and prizes. The Stoner Open
raised approximately $8600 for the HHT Foundation, along
with raising HHT awareness amongst all of the participants
and attendees.
Steven Stoner planned and organized the Stoner Open in
honor of his uncle, David E. Stoner, who suffers from HHT.
The outpouring of support from family and friends was
remarkable. With 32 foursomes and over 40 other sponsors
and donors, the Stoner Open not only met but exceeded the
expectations of the organizers. So much so, that the course
reached its capacity. Foursomes were actually turned away
from this year’s event. Thus proving what a successful event
Steven has created. This is the third straight year that the event
has been sold out and over those three years the event has
raised approximately $32,000 for HHT.
On the whole, through the work of Steven Stoner and the entire
Stoner Family, the day went off without a hitch. The golfers
praised both the event and the cause, and many were heard
vowing to return again next year.
22 DirectConnection
Mark Your Calendars for
Upcoming Events
Lake to Lake Bike Tour through Michigan
Anthony Anzell believes
that early diagnosis
of HHT is extremely
important and that
education
of
the
medical community is
an urgent necessity. It
is for this reason that,
on August 18th, Anthony
is riding his bike 208
miles across the state of
Michigan with his friend
who also has a genetic
disorder called A-T (Ataxia Telangiectasia). They are calling
it the Lake to Lake Bike Tour to raise money for two charities:
HHT Foundation and the A-T Children's Project. The tour will
start in Holland, MI on Lake Michigan and will end in Monroe,
MI on Lake Erie. Please help in Anthony’s fight for a cure by
supporting Anthony’s event at http://www.active.com/donate/
laketolake.
Anthony had 120 ml of abscess in his brain. The doctors had to
perform three different surgeries over the course of 10 days to
remove the abscess. While in intensive care, they also found an
abscess in his liver. Lastly they found two AVM’s in Anthony’s lung
which caused the abscesses. Anthony suffered a stroke due to the
pressure and infection in his head. While in the hospital, Anthony
was diagnosed with HHT.
Early diagnosis for Anthony would have most likely avoided the
brain and liver abscesses which threatened his life. Knowing that
he has HHT, regular screenings should help Anthony avoid these
catastrophic issues in the future and we are happy to report that
Anthony is doing wonderfully.
HopeFest 2012 – Canton, MI
The HopeCrew organizes fundraising
and awareness events throughout the
year that culminates in HopeFest. In
its third year, HopeFest 2012 will be
held on Saturday, September 15th
at Heritage Park Amphitheater in
Canton, Michigan. There will be
carnival games, a rock climbing wall,
face painting, moon bounces, food,
entertainment, and much more. Come
join the fun!
Volume 2 • 2012
Symposium on Nosebleed Management
A Highlight of this year’s National Conference
We are thrilled to announce that, for the first time, the HHT Patient and Family Conference will bring together a panel of
four prominent ENT’s (Ear, Nose, and Throat Physicians) specializing in Otolaryngology and Rhinology to discuss the various
epistaxis treatment options for HHT patients.
Nose bleeds are the most obvious and recurring symptom of HHT for most patients. However, no two patients experience nosebleeds
in the same way which means that there is no one treatment that is effective for all patients. For instance, some people have mild or
infrequent nosebleeds that respond well to topical treatments while others experience intense daily nosebleeds that require medical
intervention and /or blood transfusions.
For this reason, patients want effective treatments that will significantly impact their quality of life. HHT patients, specifically, want
to reduce the frequency and severity of their nosebleeds. But, What treatments work best? Which HHT Centers perform what
procedures? Are there therapeutic interventions that are more successful than others?
These are the types of questions that will be answered by the panel of experts. Dr. Marie Faughnan, HHT Center Director at the
University of Toronto St. Michael’s Hospital, will present a variety of patient scenarios, ranging from mild to severe cases, to our panel
of ENT’s. Each physician will have an opportunity to discuss their course of treatment for each patient scenario. Our panelists will
share their perspectives on the use of Avastin, Young’s Procedure, and sclerotherapy in addition to more traditional interventions,
such as laser and bi-polar cautery.
We proudly present our distinguished panel of ENT’s specializing in the treatment and management of HHT-related nosebleeds.
Dr. Davidson is a Professor of Surgery in
the Division of Otolaryngology - Head
and Neck Surgery and the Associate Dean
for Continuing Medical Education at
the University of California, San Diego
School of Medicine. Dr. Davidson is an
integral part of the HHT Center at UCSD.
His clinical and research interests focus
primarily on the treatment of HHT-related
epistaxis through the use of topical agents such as Avastin.
Dr. Piccirillo is a member of the Executive
Committee of the Washington University
Institute of Clinical and Translational
Sciences (ICTS) and the Institute for
Public Health. He is a board-certified
otolaryngologist and a member of the
Washington University HHT Center of
Excellence. His clinical interests include
management of HHT-associated epistaxis, sinusitis, sleep
apnea, and tinnitus.
Dr. Marple is a Professor and Vice Chairman
of the Department of Otolaryngology and
Associate Dean for Graduate Medical
Education. His research interests have
concentrated on inflammatory disorders of
the paranasal sinuses and their treatments.
Dr. Marple has been treating HHT patients
for more than a decade and is now affiliated
with the HHT Center at the University of
Texas Southwestern (UTSW).
Dr. Ross is a Professor of Otolaryngology,
Chairperson of the Department of Surgery
and Clinical Vice President of Surgery at
St. Vincent’s Hospital and he is affiliated
with the Yale HHT Center. Dr. Ross has
pioneered microvascular surgical techniques
and developed nasal therapies for refractory
nosebleeds in people with HHT. His laser
and skin graft techniques have changed the lives of many
patients with HHT.
Visit the HHT Online Store
at www.hht.org
Start your Shopping Now!
Follow Us
@hhtawareness
A portion of your purchase will benefit the HHT Foundation.
• Awareness Bracelets
• Conference DVD
• Dear Grace Books
Volume 2 • 2012
• HHT Apparel & Merchandise
• HHT MedicTags and MedicAlert
• Innisbrook Wraps
Please note: Be careful dispensing or receiving medical information on Facebook
or Twitter. The information contained on these sites should not replace necessary
consultations with qualified health care professionals.
DirectConnection 23
HHT National Patient and Family Conference
Orlando, FL • October 26-28, 2012
Choose from over 40 workshops!
Conference Location
The Hilton Orlando is centrally located in the heart of Orlando’s
world famous attractions and entertainment area. The hotel is only
minutes from SeaWorld®, WonderWorks, Universal Orlando®, Walt
Disney World® Theme Parks and Pointe Orlando – an entertainment
complex with shops, restaurants, and an IMAX movie theatre. The
Hilton Orlando is 13 miles from the Orlando International Airport
and a 45 minute drive to Cocoa Beach.
Hilton Orlando
6001 Destination Parkway
Orlando, Florida 32819
www.thehiltonorlando.com
Topics will include an HHT Overview, Screening at an HHT
Center, Sports & Exercise, the Impact of HHT on families,
and much more!
TENTATIVE SCHEDULE
Adult Program
Friday, October 26, 2012
8:00am 8:30am 9:30am 5:30pm Amenities
Guest Rooms – Free wireless and wired high-speed internet;
37-inch LCD HD TV; programmable safe; in-room refrigerator; and
coffee maker.
Hotel - Free wireless high-speed internet throughout the hotel and
meeting space; 2 resort pools including a slide and fountain; lazy
river; recreation courts for volleyball, basketball, bocce ball, and
tennis; 9-hole executive putting golf course; ¼ mile jogging track;
full service spa; fitness center by Precor® with bikes, treadmills,
and circuit stations; four on-site restaurants and a marketplace for
convenience shopping.
Transportation – Shuttle service to all three major parks; itrolley
provides inexpensive transportation up and down International
Drive for hotel guests who wish to explore what the area has to offer.
Guest Room Rates
- -
- - 10:00am
9:15am
5:30pm
7:00pm
Registration
Overview for 1st Time Attendees
Lectures, Workshops, Q&A
Welcome Reception
Saturday, October 27, 2012
7:00am - 8:00amPower Breakfast – Network with
a Medical Professional
8:00am - 12:30pm Lectures, Workshops, Q&A
12:30pm - 1:30pm Lunch
1:30pm - 3:30pm Workshops
3:30pm - 4:30pm Informal Meet Up Groups
6:00pm - 10:00pmCocktail Reception, Dinner &
Live /Silent Auction
Sunday, October 28, 2012
7:00am - 8:00amPower Breakfast – You Can
Make a Difference
8:00am - 1:00pm Lectures, Workshops, Q&A
Youth Program (ages 6-16)
Friday, October 26, 2012
We have negotiated special conference rates for a specific block of
rooms. This special rate is only for reservations made on or before
September 24, 2012. SPACE IS LIMITED and ONLY AVAILABLE FOR
THE DATES OF THE CONFERENCE! The Hilton Orlando is booked
for dates prior to and after our conference. If you wish to extend
your visit, you will have to book a room in another hotel for the
additional dates of your trip.
Standard Room $119.00/night (taxes not included)
Hospitality Parlor $119.00/night (taxes not included)
Reservations
To reserve a room, please call the hotel directly and specify that
you are attending the HHT Conference. You will need to pre-pay
or guarantee your room with a major credit card by September 24,
2012 to receive the conference rate. Any requests after that date are
on a space and rate available basis. WE STRONGLY SUGGEST
YOU MAKE YOUR RESERVATION AS SOON AS POSSIBLE!
9:00am - 9:30am Registration
9:30am - 5:30amAge Appropriate Workshops,
extracurricular activities and
Q&A with HHT Specialists
5:30pm - 7:00pm Welcome Reception with family
Saturday, October 27, 2012
7:00am - 8:00am Breakfast with family
8:00am - 3:30pmAge Appropriate Workshops,
6:00pm - 7:15pmCocktail Reception and Dinner
with family
7:15pm - 10:00pm Bonfire and a movie
Sunday, October 28, 2012
7:00am - 8:00am Breakfast with family
8:00am - 1:00pmAge Appropriate Workshops,
1:00pm
Re-join family
By phone: 888-488-3509
Online: https://resweb.passkey.com/Resweb.do?mode=welcome_ei_new&eventID=9695544
24 DirectConnection
Volume 2 • 2012
We Need YOU…
To make this conference a success. Please call the Foundation
office (800-448-6389) if you are interested in volunteering.
Solicitation – auction donations, give-away items, follow-up with
sponsors and exhibitors
Photographer – document all aspects of the conference (35mm camera,
high resolution)
Videographer – document lectures
Greeter – work at “help desk” making attendees feel welcome
Auction – assist Cathleen Kinnear and several board members
AUCTION
RAFFLE!!!
The grand prize is ... an Apple IPad2!
You can support the HHT Foundation, whether or not you are
attending the conference, by purchasing raffle tickets for yourself
or to sell to others. You could be one of the lucky winners who
takes home one of three valuable prizes. The prize drawings will
occur during the auction on Saturday night. However, you do
not need to be present to win!
1stPrize– iPad 2
2ndPrize – iPod nano
3rd Prize – $100 Cash
1 ticket for $5.00 or 6 tickets for $25.00
On Saturday evening, after a day full of lectures and workshops, we will all gather for dinner and an auction. This time of food, friends,
and fundraising is a vital part of the conference experience. There is something for everyone; whether you enjoy a fast-paced live auction,
a low-key silent auction, or purchasing a raffle ticket!
To ensure a successful auction, we need donations! These items have received the most interest and raised the most money in past
auctions:
Frequent Flyer Miles (35,000 or more)
Hotel and Resort Packages
Golf Course Packages
Sports Memorabilia
Theme Park vouchers
Designer Items
Autographed Books
Unique Trips (Offshore fishing, White Water rafting, etc.)
Condos & Time Shares
Electronics (IPads, IPhones, IPods, Xbox360’s)
Tickets to Events (Professional Sports, Broadway Plays, Concerts, etc.)
Jewelry
Specialty Liquor/Wine Connoisseur Items
Artwork and Photography
Gift Certificates for National Restaurants/Stores
Health & Fitness Items
Please contact Cathleen Kinnear at cathleen.kinnear@hht.org or 800-448-6389 when you decide on the fabulous item you are willing to donate!
All donors will receive a tax receipt for income tax purposes. All donated items must be physically received by the HHT Foundation no later than
September 21, 2012. WE WILL NOT ACCEPT DONATIONS AT THE CONFERENCE.
Educating the Next Generation
National Conference Youth Program
Children have a natural
desire to understand the
world around them and
HHT can be scary if you
don’t understand it. We
want to take the fear and
uncertainty out of HHT
2010 Youth Program
and, in turn, provide
children with the tools they need to overcome the challenges
that this disorder can sometimes present. It is our feeling that
children need to learn about this disorder so they can advocate
for themselves in school, camp, and at the doctor's office.
Children need to be armed with knowledge so they can make
others aware of their disorder, which will increase awareness and
diagnosis, and ultimately, save lives!
The Youth Program is a FUN learning environment! There
will be lots of hands on interaction as well as a wide variety of
games and activities. While the adults are attending lectures and
workshops, the children will be participating in age appropriate
open forum discussions with HHT specialists – physicians,
Volume 2 • 2012
nurses, and psychologists – to better understand their family’s
medical history and learn how to care for themselves. One of
the most important outcomes of the Youth Program will be the
bonding that these children experience with one another. It is
important for them to realize that they are not alone in this battle.
This year, we will be building upon the very successful program
that was developed for the 2010 National Conference. The Youth
Program is designed for children ages 6-16 who have HHT in their
family. HHT impacts those who inherited the disease as well as
those who didn’t. This program will educate and address issues for
both groups of children. The Youth Program is fully supervised by
the HHT Foundation and its’ Board of Directors, along with HHT
specialists from a variety HHT Centers. Everything is included
for one low fee.
Orlando is the ideal family venue. HHT, as an inherited disease,
it is all about family. Now, the HHT National Conference is too.
Bring the siblings, the grandchildren, the cousins… We promise
that everyone who attends will have fun and learn something new.
New this year –
• Special workshops for young adults
• Lots of outdoor activities
• Making S’mores around a Bonfire
• Movie Night
Please consider
joining us this
year – for your
family’s sake!
DirectConnection 25
MEDIA & AWARENESS
Remembering Molly Dunne
Seven year old Molly Dunne was
diagnosed with severe Pulmonary
Hypertension (PH) after collapsing
on her first day of kindergarten in
September 2010. A few days after
she collapsed, she went into cardiac
arrest and was placed on ECMO
(heart-lung bypass). She was then
flown from Delaware to Pittsburgh,
PA where she became the second
child in the U.S. to be placed on an artificial lung, called a Nova
Lung. She remained on the Nova Lung for 25 days. During that
time, it was discovered that Molly suffered a significant brain
injury. The family was told she may never see, walk, talk or
do anything like a normal child again. It was at this time that
Molly’s parents were told that the Pulmonary Hypertension was
due to Hereditary Hemorrhagic Telangiectasia (HHT), a genetic
condition causing malformations in blood vessels.
Molly’s mother, Kristen knew that there was a history of
HHT in the family and had asked doctors for years about
the possibility that Molly had HHT, based on symptoms she
observed. Her mother was continuously told that Molly could
not have HHT; doctors always suggested another diagnosis
(including “reactive airway disease,” and “breath-holding.”) One
cannot stress the importance of HHT Awareness. Had doctors
diagnosed Molly’s HHT sooner, she may have been monitored
more closely and preventative measures taken before her PH
progressed.
Throughout all of this, Molly’s parents never stopped believing
in Molly and after she returned to Delaware in December of
2010, her recovery skyrocketed. For 17 months, Molly was
hospitalized and in rehabilitation therapy, eventually able to
walk with the help of a walker, to say a few words and able to
see. Unfortunately, her Pulmonary Hypertension progressed.
She was later told that she would not be eligible for a transplant
due to her brain injury.
As Molly’s condition began to rapidly
decline, Kristen reached out to ask
people to help her and Molly write
a “bucket list” and the responses
poured in. The list of over forty items
included going to a prom, a fatherdaughter dance, cotton candy at the
fair, throwing out the first pitch at a
baseball game, and meeting Hannah
Montana. With help from a friend,
the “Flat Molly” project was created,
based on the popular children’s book,
26 DirectConnection
“Flat Stanley”. Friends were asked to share pictures of Molly at
various events and post them on her Facebook page entitled,
“Miracles for Molly”. During her final days, Molly looked at
the pictures, and even got a photo and a phone call from Miley
Cyrus (Hannah Montana). When people take pictures, they are
often asked, “What are you doing?” creating an opportunity
to tell Molly’s story. Her legacy will live on, and hopefully
no other family will ever have to suffer as the Dunne’s have
suffered.
The HHT Foundation told Molly’s story
to Congressional Representatives from
Delaware and Pennsylvania. Family,
friends and HHT members who followed
the story on Facebook sent emails to their
representatives through Capwiz on the
Foundation’s website. As a result, Senator
Christopher Coons (DE) co-sponsored
the bill.
In addition to Flat Stanley, Molly was a huge fan of Build-ABear. Wanting to do something to give back to the Children’s
Hospital of Pittsburgh and
raise awareness for PH and
HHT, several friends of the
Dunne Family started the
“Miracles for Molly BuildA-Bear Drive” in which
children can go to a Builda-Bear location and design
and donate their own Bear
that will be personally
delivered to a hospitalized
child at the Children’s Hospital of Pittsburgh.
On May 17, 2012 Molly suffered heart failure and passed away.
She was a brave little girl that never gave up the fight! Molly is
survived by her parents Kristen and Kevin Dunne, as well as an
older brother, Ryan, age 9 and a twin sister, Kate.
Volume 2 • 2012
Donations to the
Foundation
Our sincere and heartfelt thanks go out to everyone who has contributed to the HHT Foundation whether through research
endowment, membership, general, or tribute donations. Below we list the donors who have contributed to the HHT Foundation
through a memorial or tribute gift from March 1, 2012 to June 30, 2012.
Tribute Donations
DONATIONS THAT CELEBRATE
In Honor Of...
"All that have HHT"
Bob and Jackie Dodd
Gail Magnus
The Purdy Family
Maureen Routledge
Pam West
Helen Catalano
Mr. & Mrs. Robert Dodd
Arlene Salkin
Jim and Diane White
Dennis and Nancy White
Jack Freed
Earle and Brenda Gould
Margaret Darby
Ellen McDonald
In honor of Mother’s Day
Kerry Chu
Heather Coon
Garnett-White Family
Erin McNannay
Anonymous Donor
Decagon Devices
Ben Altergott
Terri Altergott
Birthday of Cliff Botwin
Howard and Linda Rinn
Thelma Bozzi
Anonymous Donor
James McDonald
Charlene Labrecque
My Sisters Family
Chris Dunn
Mike Higgins
Elliott Purdy and Emma Purdy
Lee Collins
Don and Trish Hudgens
The Jurevic Family
Joel Rosner
Lauren and Kelly Trussell
Milton Elbogen
Bill and Ann Trussell
Dorothy McGuire
Lanita Peterson
Jacqueline Peterson
MEMORIAL DONATIONS
Memory of...
IN LOVING William Adams
Mrs. Worth and Karen Edwards
Sean Bass
Ruth Brilliant
Renee Korda
Shirley Bass
Ruth Brilliant
Jeffrey Blevins
William and Mary Mandeville
Frank Perna and Rose Collela
Algerina Perna
Jacqueline Colondrea
Anthony and Pia Pagliuca
Ronald Corey
Barbara Corey
Elaine Crary
Steven and Debra Schroeder
Mary Criswell
Betty Hill
Noma Crow
Lita Blevins
Clyde High School, Class of 1953
Terri Horn
Carrie Mead
Pearce Veterinary Clinic
Sand Springs Church of Christ
Beverly Curry
David Curry
Frank Curry
Kathy Curry
Isidro del Castillo
Theresa Del Castillo
Alyson Gustafson
27
Volume
Direct
2 • Connection
2012
Molly Dunne
Kevin and Kristen Dunne
Frank and Trish Linke
Rene Flores
Elisa Zambrano
Ella Freed
Ms. Earle and Brenda Gould
Casper Funaro
Mrs. Casper Funaro
Richard Gill
Mrs. Wendy Gill
Helene Greenbaum
Zoila Anemone
Stefan Burns
Jean Consorti
Dematic Corporation
Andrea Dula
Marie Elwood
Richard Fallon
Gregory Fanslow
William Fanslow
Joel and Frieda Friedman
Allan Greenbaum
Wayne and Carol Greening
William Hopkins
Jennifer Kaplan
Mitchell Karl
Catherine Merker
Scott Mink
Stacey Napoli
Mr. and Mrs. David Rhodea
EJ Scutari
Terra Bella Memory Care Homes
Peter and Barbara Terranova
Joe, Nancy and Brian Walsh
Gloria Groos
Ann Hirsch
Ralph Herrbach
Marcia Morris
Alex Hershman
Mr. and Mrs. Danny Chessin
Lisa Goldberg
Dora Hershman
Rita Jacobs
Peter Guthmann
Phillip Johnson
Robert and Annette Ruhe
Helga Kahl
Mr. and Mrs. Klaus Marreck
Beatrice Leaderman
Lois Wonboy
James Lepis
Anne Lepis
Alfred Lewis
Barbara Baskas
Casual Male Retail Group, Inc.
Adrienne Domeier
Ellie Holman
Paul and Phyllis Kreitzberg
Harvey and Beverly Leifer
Frank and Ellie Mostow
MGary Najarian
David and Mary O'Neill
Rich and Donna Sandler
Richard and Marsha Sirull
Liora Stone
Jane Weiner
Melvin and Anita Weiner
Jacqueline Yanofsky
Stephen and Paula Yanofsky
Patricia and Fred Purman
Elizabeth McHugh
Dr. Denise McHugh
Rosalie Meiches
Phoebe Rasmussen
Roxie Murray
Alliance Sleepy Hollow
Robert and Irene Bonidie
Jean Brown
Jerry and Janice Brown
Harry and Rosemary Fails
John and Connie Gatrell-Makely
Bill and Jeris Mangano
Richard and Mary Jane Murray
N.R. and Josephine Pietrocola
Carl and Trudy Salyers
John and Anna Searfoss
Robert and Dawn Shaffer
Mr. and Mrs. John Stocker
Craign and Stephanie Unckrich
Target Training International Ltd.
Valerie Nelson
Cheryl Nelson
Larry Nesheim
Steven Nesheim
Jim and Beth Plahn
Elonda Palacioz
Nancy Palacioz
Robert Parsons
Emily Crozier
H. Ritman and Rebecca Jons
Bill and Orda Podratz
Elviria Podratz
Bill and Orda Podratz
Patricia Rosen
Jan Kasoff
Gregory Simon
Catherine Simon
Robert and Karen Simon
Robert Spooner
Anonymous Donor
Robert Sprecher
Vera Sprecher
David Stoner
Donald and Grace Ackerson
Dorothy Striker
Joan Cook
Kenneth Timmermann
Lynda Escalante
Sean Timmermann
Conrad Trimarco
Mary Jordan
Evelyn White
Andrew and Marianne Clancy
Frank and Trish Linke
Robert and Pat White
Gloria White
Thomas White
Sharon White
Betty Hill
Frank Perna
Howard and Sylvia Kuritzky
Hereditary HemorrhagicHHT
Telangiectasia
Foundation Foundation
International,
International,
Inc. • www.hht.org
Inc.
Direct
Volume
Connection 2 • 2012
27
HHT Foundation International, Inc.
P.O. Box 329
Monkton, MD 21111
U.S.A.
NATIONAL PATIENT AND FAMILY CONFERENCE
Orlando, Florida October 26-28, 2012
Whether or not you inherited the gene, HHT affects your family. The National Patient Conference is a family affair with
comprehensive programs for adults and youth (ages 6-16). You need to come join us in Orlando to learn about HHT – the latest
guidelines, treatments, and research – but you will leave with so much more!
NEW THIS YEAR . . . .
Adult Program Symposium on Nosebleed Management with 4 leading ENT experts
Lectures on Blood Clots, Iron Deficient Anemia, and Nutrition
Informal Group Meetings
Yoga class, Relaxation Room and Hope Room
Current HHT Research Posters
Clinical trial participation in the Brain AVM Study
Youth Program Hands-on workshops presented by HHT pediatric specialists
Age-specific workshops geared toward youth and young adults
Indoor and outdoor activities that kids of all ages will enjoy
Registration information will be sent to members’ homes. All registration materials are also available online at www.hht.org.

THe CloCk Is TICkIng For THe HHT DIagnosIs anD

Transcription

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