What is Helping Hands?		House of Representatives Report Language
	Congressional Testimony on SMA 2004

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:

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 Breiteneicher

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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 of SMA.

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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 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 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 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 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 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 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 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 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 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.

Contact your Senator and Congressperson

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