Even though spinal muscular atrophy (SMA) is the number one genetic killer of children under the age of two and is estimated to occur in 1 in 6000 births, all too often parents tell of a long and stressful path to their child’s SMA diagnosis. Many times this is simply due to a physicians inexperience with SMA and so the signs of the disease are not immediately recognized. But, the story of the Hoskins family of Greencastle, Indiana seems particularly burdensome. It involves ignored symptoms, lost medical tests, a misdiagnosis, and months of unnecessary intravenous treatment.

Thankfully, Zion Hoskins, just short of his second birthday, is doing well. His mom, Chelsea said, “It’s hard to watch him struggle. He’ll fall over, but he gets back up and keeps trying.” Even though Zion’s parents know that the future will likely include feeding tubes, breathing machines, and wheelchairs, they are optimistic that their son will have the opportunity to enjoy many of the same experiences as his peers. “It’ll be interesting to see how things progress,” Paul, Zion’s father, said. “I like to think Zion is going to prove all the doctors wrong.”

Read their story by clicking here.

Attention SMA Families, Kids and Friends!

We want to share your story - starring YOU! FightSMA has a special campaign in early 2010 and we need your help. Send us videos of your family and children breaking barriers: from doing the unexpected (playing floor hockey, skiing, etc), to sharing a cool story about your family, to giving advice to other families, helping them make their lives just a little easier. In 2010, it’s all about you.

We’ll be picking our favorite videos to be showcased and to receive an extra cool prize. More details to come soon!

Please send your video submissions via email or hard copy, along with the patient’s name, age, SMA type, and a fun fact. Here’s how:

Electronically
carolinegibson@fightsma.com
Send us a link to the YouTube or other video hosting site, or via a filesharing website like YouSendIt

Hard Copy
From Our Family To Yours
Attn: Caroline Gibson
FightSMA
1807 Libbie Avenue, Suite 104
Richmond, VA 23226

Questions? Feel free to call or email Caroline anytime. 804-515-0080 or carolinegibson@fightsma.com.

By submitting a video for this campaign, you authorize FightSMA/Andrew’s Buddies to use the submitted footage in its original or edited form in any media. You also certify that to the best of your knowledge, all materials used in your video are your own or are materials for which you have obtained any necessary permissions. You further acknowledge that you submit the video freely and without expectation of compensation for any uses made of the submitted footage.

All too often, news in the SMA community is full of sadness and heartache as spinal muscular atrophy (SMA) takes its toll. This makes celebrating happy stories that much more important. Here are two such stories.

The Children’s Wish Society of Malaysia (CWS) and MPH Group of Companies have made 13 year old Alicia Loh’s dream come true. Diagnosed with type 2 SMA ten years ago, Alicia has been enjoyed reading books and writing short stories. While visiting America for spinal surgery, Alicia wrote her own book entitled The Last Chapter about a girl trying “to understand the meaning of life.” Now, this book will be available for sale in MPH bookstores around Malaysia. For the full story, click here.

In Connecticut, the Takacs family received an amazing Christmas gift. A community of strangers came together to create a special portable bed for 4 year old Ethan who has type 1 SMA and had outgrown his crib. Ethan’s dad had gone to Hemingway Custom Cabinetry to investigate how much a special bed would cost to make. After learning more about Ethan and his needs, Hemingway Custom Cabinetry and their vendors donated time and materials to create the bed which they delivered last week. To read more, click here.

If you have more uplifting stories to share as we move into the new year, share them with FightSMA on Facebook or Twitter.

The Washington Times recently ran a lovely piece about the Lee Family of Ellicott City, Maryland. Emily Hope Lee, the third daughter of Nathan and Diana Lee, has spinal muscular atrophy (SMA). The article describes some of the struggles that the Lee family has faced in their battle with SMA and provides a little insight into how their faith has impacted their fight.

Here is an excerpt from the article, “Hope is her middle name” by Julia Duin:

Emily Lee, with her large brown eyes, pale ivory skin and two small jet-black pigtails, has clung to life for 2 years and 5 months.

She cannot crawl, sit up, move her head or even swallow because of spinal muscular atrophy (SMA). The genetic disease that prevents the production of muscle protein kills half of the affected children by the age of 2. The rest die by their teens.

Her family is just grateful that Emily has lived to see her second Christmas. The child lives between life and death, enjoying “Veggie Tales” and “Dora the Explorer,” baths and van rides to her church, Columbia Presbyterian, where her parents sit in the back, ready to dash out the door if Emily’s health were to fail.

To read the full article and to see a slideshow of pictures, click here. To keep up with the Lee Family, visit their website www.hopeforemily.com.

Families from all over the nation are traveling to the nation’s capital with a goal of advancing the fight against the deadly disease spinal muscular atrophy (SMA). The families will be in Washington D.C. from April 22-27 to attend the twelfth Fight SMA Annual Spinal Muscular Atrophy Conference, The Good Fight, where they will learn about the disease, network with researchers and other SMA families, and work toward legislation to assist in finding a cure for spinal muscular atrophy.

Spinal muscular atrophy is an incurable neuromuscular disorder that kills more infants than any other genetic disease. SMA affects the motor neurons of the spinal cord and brain stem, rendering them unable to communicate with muscle cells properly. The National Institute of Neurological Disease and Stroke (NINDS) of The National Institutes of Health (NIH) says, however, that out of the 600 disorders it tracks, SMA is one of the closest to being cured. Fight SMA is an international nonprofit organization dedicated to accelerating that cure.

Many of the families in attendance will meet with their Senators and Representatives to urge them to support the creation of the first spinal muscular atrophy legislation in our country’s history. The proposed SMA Treatment Acceleration Act, developed through a collaborative effort between Fight SMA, the SMA Foundation, and Families of SMA, would establish a national clinical trials network to develop treatments that are safe and effective for SMA patients
“The conference attendees are able to explain better than anyone why the fight against spinal muscular atrophy is so critical,” said Fight SMA President Martha Slay. “We know these meetings with members of Congress will put a face on this horrible disease.“

Attendees will also have the opportunity to receive updates on research into the disease from scientists from all over the world, gain valuable and practical advice from clinicians for coping with a childhood disease on a daily basis.

For more information on the conference, please visit the Fight SMA 2007 Annual Conference web page.

FightSMA’s annual conference, “The Good Fight” is set for April 22-27, 2007 in Washington, D.C. at the L’Enfant Plaza Hotel. We are looking forward to seeing old friends from around the world and to presentations by more than 30 spinal muscular atrophy scientists and clinicians. We especially appreciate the generous sponsorships of the meetings provided by PTC Therapeutics, Oxford Biomedica, and Genzyme. For more details, click here.