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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 that goal.
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 SMA.
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 ˝ 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 deadly.
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 ˝ 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 ravage her.
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 without help.
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 year.
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 country.
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 ˝ 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 today.
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 ˝ 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
opportunistic.
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.
Thank you. |
