WHO IS THE SPINAL MUSCULAR ATROPHY (SMA) COALITION?
Mission Statement: “The
Spinal Muscular Atrophy Coalition is comprised of nonprofits
from across the country. We stand united
and work together to raise awareness and advocate for progress
towards a treatment and cure for the leading genetic killer of
infants and toddlers – SMA.”
The SMA Coalition includes:
FightSMA / Andrew’s
P.O. Box 785
Richmond, VA 23218-0785
Contact: Martha Slay
Miracle for Madison and Friends
6166 Enke Ct.
Dublin, Ohio 43017
Contact: Annette Reed
P.O. Box 667498
Pompano Beach, Fl. 33069
Contact: Debbie Freeman
SMA Angels Charity
P.O Box 308
Richmond Hill, GA. 3132
Contact: Anne Mequiar
PO Box 6301
Kokomo, IN 46904-6301
P: 765-864-5364 ext. 225
Contact: Laura Stants
Spinal Muscular Atrophy Foundation
1776 Broadway #2205
New York, NY 10019
Contact: Shanna Yarbrough
The Benjamin Foundation
2 Primrose Lane
Salem, NH 03079
P: (603) 890-6300
Contact: Jason Amiss
WHAT IS "HELPING HANDS"?
We welcome your interest in fighting Spinal Muscular Atrophy (SMA),
and your dedication to raising awareness and support to find treatments
and a cure for this devastating disease.
The SMA Coalition is a voluntary alliance of nonprofit SMA organizations
from across the country concerned with accelerating SMA research.
We have united in order to coordinate our efforts towards increased
U.S. government financial support for SMA research.
One of our initiatives is to build a ‘Helping Hands’ network
comprised of people like you who want to actively assist in our
efforts. This network will consist of a ‘Helping Hand’ or
contact in each and every state who will be willing to assist with
our mission. Presently, we are working to identify the families
and friends who will serve as our ‘Helping Hands’ volunteers.
We invite you to lend a ‘Helping Hand’ and volunteer
for SMA. You are probably wondering what being a ‘Helping
Hand’ involves: it’s simple and will take very little
of your time!
Here are the details:
First, our ‘Helping Hands’ will receive regular email
updates about our efforts in Washington to advance SMA research.
All you need to do is read the updates and stay informed on the
progress we’re making.
Second, you will receive a “Call to Action” no more
than 3 or 4 times a year that will ask you to send an email to
the Members of Congress and U.S. Senators from your state. We will
provide their email address and the text of the email message,
so all you have to do is click and send!
Finally, if you are able and willing to travel to Washington,
DC, we would welcome your participation one day each year, in the
early spring, for our annual visit to Capitol Hill. The Hill visit
is not mandatory, but we encourage families and friends from across
the country to come to Washington where we would arrange for you
to visit with your Members of Congress and Senators. If you unable
to travel but still willing to meet with your Representatives,
we can also assist you in arranging a visit to their offices back
home in your state.
All we need from you is your name, address, home and work telephone
numbers, and e-mail address!
Together, our ‘Helping Hands’ will ensure that every
Member of Congress, every U.S. Senator, and all key leaders at
the National Institutes of Health are well-informed, actively engaged
and supportive of the research that will lead to effective treatments
and a cure for SMA — and soon!
We look forward to hearing from you and thank you again for your
interest and support,
The SMA Coalition
For more information, contact Laura
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HOUSE OF REPRESENTATIVES REPORT LANGUAGE
HOUSE FY05 Labor, Health and Human Services and Education Appropriations
NATIONAL INSTITUTE OF NEUROLOGICAL DISORDERS AND STROKE
Spinal Muscular Atrophy.-- SMA is the leading genetic killer of
infants and toddlers. The Committee understands that the severity
of the disease, its relatively high incidence, and the possibility
of imminent treatments have led NINDS to initiate the SMA Therapeutics
Development Program. The Committee is pleased that initial work has
begun on the program and encourages NIH/NINDS to move forward with
the mission to develop a treatment for SMA ready for clinical trials
within four years. The Committee further urges NINDS to develop a
strategy for executing effective clinical trials for future therapies.
The Committee encourages NINDS to integrate Therapeutics Development
efforts with: the biotech and pharmaceuticals industry, academic
medical centers and collaborations with voluntary health organizations.
NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT
Spinal Muscular Atrophy.-- Spinal Muscular Atrophy [SMA] is the
leading genetic killer of infants and toddlers and is the most prevalent
genetic motor neuron disease. Over 25,000 Americans, mostly children,
suffer from significant physical disability and impairment as a result
of SMA. The Committee encourages NICHD to work closely with NINDS
to develop collaborations which will support the SMA Therapeutics
Development project-- including an expansion of the scope and level
of SMA research at NICHD. In addition, NICHD is strongly urged to
develop formal programs that increase public and professional awareness
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CONGRESSIONAL TESTIMONY ON SMA 2004
Testimony given in front of Congress by Loren Eng, President of the
Spinal Muscular Atrophy Foundation, on 4/27/04.
Thank you for giving me the opportunity to speak with you. My name
is Loren Eng and I am the president of the Spinal Muscular Atrophy
Foundation, which is a non profit organization dedicated to accelerating
a treatment for SMA, and which has committed $20 million towards
I am also here on behalf of the SMA Coalition, which is comprised
of non profit groups across the nation. Led mostly by courageous
parents, these groups have transformed Spinal Muscular Atrophy from
a poorly understood disease, to one that is almost miraculously on
the verge of treatment They have provided hope and help to more than
20,000 children across the nation that suffer from the tragedy of
Most of all, I am here as a mother, asking for your help in saving
the life of my 4 year old daughter, Arya who was diagnosed with SMA
2 ½ years ago. Like most parents, and most of you, we had
never heard of SMA until we got the phone call from the doctor that
shattered our lives. Since then we have learned that SMA is the leading
and #1 genetic killer of infants and toddlers. As the most prevalent
motor neuron disease, it is a brutal disease that causes muscles
to wither away…and it is incurable, untreatable, cruel, and
Over 20,000 children have SMA in the US; up to 1000 babies are stricken
with SMA each year; and over 7 million Americans are carriers of
SMA. It is often described as a genetic form of polio, or a child’s
version of Lou Gehrig’s disease. It is as common as many diseases
you have heard of, such as ALS, Cystic Fibrosis, and Duchenne Muscular
Dystrophy. Yet, until recent discoveries, it was poorly understood
and misdiagnosed. SMA destroys the motor neurons that control muscles,
causing them to waste away. In severe cases, which are most common,
dramatic muscle weakness leads to hospitalization, tracheotomies,
feeding tubes, and usually death within the first two years of life.
In less severe types, the impact appears later, and causes loss of
strength and motion. Eventually, muscle weakness leads to bone and
spine deformities and eventually fatal respiratory complications.
Our daughter, Arya, is now four years old, and but for one gene,
we feel that we hit the jackpot. She is sweet, funny, smart, and
irresistibly adorable (though we are obviously biased!). Each day
she grows smarter and funnier, and more aware of the world around
her. She is an incredibly precocious 4 year-old! She sings, makes
jokes, is always ready with a hug, and can usually bring most adults
to tears of laughter with her antics.
But, over the past 2 ½ years, we have seen the brutal march
of this disease on her frail body. Since she was diagnosed, we have
seen this disease attack her relentlessly. She has lost the ability
to walk, stand, sit up, or even crawl. Despite this, she is the most
joyful child I have ever known. Like thousands of parents in this
country, my heart breaks daily as I helplessly watch this disease
We once worried about Arya jumping out of her crib. Today she cries
every morning so someone can help her sit up when she wakes. As a
result, someone needs to assist her, every single minute. Day by
day, it gets a bit worse, and the pain of watching our daughter’s
growing mind trapped in her weakening body is unbearable.
Yet, amazingly, we are the lucky ones. Most parents of SMA children
never see their children sit, stand, or walk, because their weakness
is so great at the outset. For all of us, though, the future is very
certain, and horrifying. The timeline is hard to predict, but the
growing muscle weakness will keep robbing Arya of strength and movement.
Eventually it will lead to bone deformities, muscle contractures,
and spinal deformities. As the muscle weakness and spinal deformities
worsen, breathing will no longer be possible. Arya sees doctors such
as neurologists, orthopedists, and pulmonologists on a weekly basis.
She endures 3 hours of daily physical therapy and requires constant
nursing care. She will need wheelchairs, braces, and respiratory
aids. She will need surgery after surgery to slow down the bone and
spinal deformities. We don’t know if this process will take
a few years, or twenty years, but it is very clear what will happen
When Arya was diagnosed, we were devastated and in shock. Yet, as
time went by, two realizations helped motivate us to get involved.
First, we met other parents of children who have SMA, and their
courage has provided us with strength and inspiration. This disease
doesn’t ‘just’ kill children, it destroys families.
For most, the emotional burden and cost of caring for their children
destroys them psychologically and financially. SMA care costs families
tens and even hundreds of thousands of dollars per year. In the last
year of life, expenses reach nearly a million dollars, which is why
it is estimated that SMA care costs America a billion dollars each
Despite these hardships, the parents we have met are the most courageous
people we have ever known. Despite their daily pain and hardship,
they have managed to organize and fight to advance research on SMA
for many, many years, when the government was providing virtually
no funding for SMA research.
I want to tell you about some of the families and organizations
who, together, make up the SMA Coalition.
In 1998, Carl and Annette Reed of Ohio founded Miracles for Madison
and Friends, a nonprofit fund housed within The Ohio State University
Development Foundation, shortly after their infant daughter Madison
was diagnosed with the most severe form of SMA. The Reed's were frustrated
by the lack of knowledge and support for SMA in Central Ohio. They
discovered one of the leading SMA research teams was located at The
Ohio State University. They joined forces with 2 other families in
Ohio to support SMA research and a clinic at OSU. Madison was not
expected to live past the age of 2 years old but she has defied the
odds and recently celebrated her seventh birthday.
Laura Stants of Indiana is an entrepreneur, professional pilot,
and a mother who lost two beautiful baby boys to SMA. As founder
of SMA Support, Laura generously donates her time to raising funds
to support SMA families. Laura provides services and equipment crucial
to the quality and quantity of an SMA child's life, not covered by
insurance, and pilots a plane she plans to use to fly families with
limited access to SMA specialists for medical care throughout the
In 1997, at the age of five months Cassidy and Skylar Swanson from
Georgia were diagnosed with the severest form of SMA. The family
was told their girls would never sit, stand or walk and would die
before the age of eighteen months. They were told there was no treatment,
no cure, and no hope. Friends and family joined forces to give their
support and established SMA Angels Charity, Inc. They have produced
a video on SMA to increase awareness about the disease and have supplied
medical equipment and assistance to families with SMA.
Debbie Freeman of Florida is the president of Payton’s Pals
and has been raising and caring for her almost 4 year old son with
type 1 SMA (who has outlived his prognosis for over three years).
She donates thousands of hours each year to raising awareness and
funds for research and she has inspired thousands of supporters in
Florida, including businesses and scores of volunteers.
Martha and Joe Slay of Richmond, VA, are the parents of Andrew who
is now 18 years old and has fought this disease all his life. In
1991, they founded Andrew’s Buddies, now FightSMA, and have
raised millions to accelerate SMA research. They have also recruited
FOX NFL SUNDAY personality and National Football League great Howie
Long to volunteers as a national spokesperson on SMA. Some of you
may have met him when he visited Capitol Hill last year to help us
raise awareness of SMA among your colleagues.
The Benjamin Foundation in New Hampshire was also founded by a family
after the loss of their 8 ½ month old son Benjamin and they
now dedicate their time and efforts to raise awareness and fight
against SMA. All their contributions have been directed for scientific,
educational and services-based needs of SMA families.
Individually and collectively, all of the work of these families
and organizations has set the stage for a true medical miracle.
Our second realization was that SMA truly has the potential to be
one of the most remarkable medical success stories in recent history.
15 years ago, the science of SMA was poorly understood, and in fact,
thought to be a family of related small diseases. However, since
the gene was discovered 9 years ago, a series of remarkable discoveries
has catapulted SMA to the verge of treatment. Scientists have identified
the missing gene that causes SMA, and discovered the critical SMN
Protein made by this gene. By a stroke of luck and miracle, they
have discovered a second copy of this gene which makes 10% of the
critical protein. Scientists have developed cell and animal models
of the disease, and used these to screen for potential drugs. Amazingly,
a number of compounds have been identified which appear to treat
SMA, and the first clinical trials on some of these have just started.
Even more remarkably, some of these promising treatments are already
FDA approved drugs and could be usable in the near term. In nine
years, we have gone from nowhere to initiation of multiple clinical
trials. There are many horrible diseases, but SMA has gone from being
one of the most poorly understood, to being one with perhaps the
best chance of being treated in the near term.
And most of this research has been funded through the hard work
of struggling parents. Because of the low historical awareness of
SMA, government funding for SMA research was negligible, particularly
compared to the tens of millions that are sensibly invested in other
diseases of comparable size.
Fortunately, NIH and the NINDS, under the leadership of its new
director, Story Landis, are now focused on the very real promise
of developing treatments or cure for SMA. That is why SMA was recently
selected as the pilot for a breakthrough translational research initiative
by NIH. Because of SMA’s severity, relatively high frequency,
and most of all, because of the remarkable opportunity to develop
treatment, NIH has initiated the SMA project – a focused effort
to translate the advanced research into a treatment!
Scientists believe that this is a remarkable medical opportunity,
and that SMA treatment is perhaps more likely than for almost any
other severe disease. Over 50 of the nation’s leading doctors
and scientists (including Nobel Laureate James Watson) signed a statement
stressing that the opportunity to treat SMA is within our reach.
They asserted that $20 to $30 million invested in each of the next
few years would likely result in treatment – a small amount
compared to the billions being spent to treat children dying of SMA
Given the tremendous possibilities that lie before us, it is critical
that government invest funding to match the work of charities. The
anguished parents of dying children are pushing as hard as they can
to end this disease. I am here asking you to help support our work
by ensuring that NIH receives sufficient funding and support to complete
the development of a treatment for SMA.
In reality, this is about much more than just one disease and 20,000
children. SMA has become a shining example for the value of investing
wisely in medical research. As a result of major scientific discoveries,
we have turned despair into hope in just a short few years. However,
SMA is also an example of what needs to be fixed in the system as
well. NIH and government funding are simply not set up to move quickly
and strategically. In today’s world discoveries can come at
a lightning pace. We need to ensure that the government can respond
quickly and act upon them. Otherwise, patients’ lives will
continue to hang in the balance. We will also waste money – both
the billions that have been invested in genetics research as well
as the billions being spent on caring for patients. Far less money,
invested shrewdly in developing treatments, will save both lives
and tax dollars.
For larger, chronic diseases like ulcers, drug companies can be
relied upon to develop treatments and translate basic research into
treatments that help people. But ½ of all Americans who are
sick, suffer from the large number of smaller diseases. And for these
millions of Americans, drug companies will simply not get involved
until very late in the game. For children’s diseases, this
is particularly true. Therefore, if the NIH and the government are
to succeed in the mission to ‘advance health’, it is
not enough to focus solely on basic research. For small diseases,
the NIH can and must lead the way in strategically investing to encourage
the translation of research into treatment, where it is scientifically
My daughter just started school last fall. While it has been exciting,
she now sees kids running, jumping and playing. Arya realizes that
there is something seriously wrong and different about her. My husband
and I struggle to answer her questions which come fast and furiously.
She has begged to know—“Why can’t I do the things
other kids can?” “Will I ever be able to run and jump?” “What
is SMA and why did God give me SMA?” Last week, before she
went to bed, she sobbed uncontrollably in my arms and cried in frustration, “I
do not want to have SMA anymore!”
We can’t bear to think of the day that we will have to tell
her what the future holds for her. With your help we can tell her,
and thousands of other families, that a real treatment for her disease
is coming soon.
Contact your Senator and Congressperson
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