Major Mark Harris, his wife, and son Jonathan (age 4, SMA type III) pose with Senator Richard Burr (R-NC) in his district offices over August recess. Senator Burr, a member of the HELP committee in the Senate, agreed to cosponsor the SMA Treatment Acceleration Act (S 1158).

On Saturday, May 16th, a group of children in Virginia held a lemonade stand to raise money for the fight against spinal muscular atrophy (SMA). The group rallied around their friend and neighbor Tatum who was diagnosed with SMA type 3 just over a year ago.

By selling lemonade, baked goods, and snacks, these young people were able to collect $250 for FightSMA to support SMA research and were also able to inform their neighbors about this crippling disease.

Not only was yesterday Mother’s Day, it’s also the time of year when most colleges are holding their graduation ceremonies. A story on the front page of the Chicago Tribune story yesterday celebrated both. Lucy Trevino, who has Spinal Muscular Atrophy Type 3 and is confined to a wheelchair, graduated this past weekend with an engineering degree. Her mother, Rosa, helped make it possible, by being right there with her in class, to assist with all of the things that SMA wouldn’t allow Lucy to do…

For the six years it took to get through one of the most rigorous programs in the College of Engineering, it was Rosa—a tad shy and always thinking two steps ahead—who got her daughter to every class, lab and study session. She knew which text and notebook to lay on Lucy’s desk. And she turned the pages when a heavy book tired Lucy’s hands.

For two or three hours, as Lucy absorbed lectures in calculus or thermodynamics or circuit analysis, Rosa sat not far away, just in case Lucy needed a sip of water or began choking.

To read the entire wonderful story, please visit the Chicago Tribune website. A video of Lucy and Rosa is also available on that page.

You may have seen the story running on the spinal muscular atrophy news feed that’s now on the front page of FightSMA.org. The new Ms. Wheelchair 2008 was crowned earlier this month.  37-year-old Kathy LeMieux of Fruitport, MI is  in a wheelchair due to having Spinal Muscular Atrophy Type 3.  She has no use of her legs and limited use of her arms and hands.  Ms. LeMieux says she’ll use her platform as a way to be a public advocate for those with disabilities.

You can read about Kathy LeMieux on the Ms. Wheelchair Michigan website, or read this story about her on Mlive.com.

Spinal Muscular Atrophy will be in the spotlight in an upcoming episode of the FOX program House. The show that will air on Tuesday, October 9 will feature an adult character with Type 3 SMA.

One of the writers for House has a seven-year-old son with Type 2 SMA, and is very active in the Southern California chapter of Families of SMA. Families of SMA, Fight SMA, and the SMA Foundation, are working together for passage of the SMA Treatment Acceleration Act. The bill has been introduced in the U.S. Senate and House of Representatives. If signed into law, it would create a national clinical trials network for SMA.

This is a wonderful opportunity for viewers to learn more about a disease many know little or nothing about. Check your local listings, and be sure to tune in!

We have unveiled new content on FightSMA.org that every SMA parent should know about. The Fight SMA Spinal Muscular Atrophy Guidebook is a compilation of the latest information available about the genetic disease that occurs in as many as one in 6,000 births, all in easy to understand language. We have gathered together in one place the following information:

Fight SMA Spinal Muscular Atrophy Guidebook
What is Spinal Muscular Atrophy (SMA)?
Spinal Muscular Atrophy (SMA) Fact Sheet
Type 1 Spinal Muscular Atrophy
Type 2 Spinal Muscular Atrophy
Type 3 Spinal Muscular Atrophy (Kugelberg-Welander Disease)
Type 4 / Adult Spinal Muscular Atrophy
Diagnosis and Tests for Spinal Muscular Atrophy
Treatment for Symptoms of Spinal Muscular Atrophy
Help and Advice for SMA Parents

Some of this information was available on the Fight SMA site in the past, but we’ve recategorized it and compiled it in one place, because we know the last thing SMA parents have time to do is search for answers to their questions. Think of it as your field manual to this terrible disease. We’ve even provided a handy link to the entire guidebook in PDF format, so it can be printed out and read offline. We hope this guidebook is a useful resource for you. If you feel something is missing, please leave a comment in this post about it, or email us via this contact form.

From the Department of Health & Human Services:

We are pleased to let you know that the National Institute of Neurological Disorders and Stroke (NINDS), through the NINDS Pilot Therapeutics Network (NPTUNE) program, is sponsoring two research studies to evaluate the safety and tolerability of sodium phenylbutyrate (NaPB) in subjects with Type I or Type II/III Spinal Muscular Atrophy (SMA). Both studies are Phase I dosage escalation studies that will assess safety, maximum tolerated dosage, pharmacokinetics, and bioactivity. It is anticipated that enrollment will begin soon.

Each study will be conducted in two stages. Stage 1 is the dosage escalation stage where maximum tolerated dosage will be defined. Safety, tolerability, and pharmacokinetics will be evaluated in this stage. Stage 2 will enroll different subjects who will receive NaPB at the maximum tolerated dosage identified in Stage 1. Safety, tolerability, and pharmacokinetics, as well as levels of SMN mRNA and protein, will be evaluated in Stage 2.

For additional information about these NPTUNE SMA studies, including eligibility criteria and contact information, please refer to our posting on www.ClinicalTrials.gov. The link for the Type I study is http://www.clinicaltrials.gov/ct/show/NCT00439218?order=3. The link to the Type II/III study is http://www.clinicaltrials.gov/ct/show/NCT00439569?order=4. Each participating clinical site was selected by competitive application process and will be listed on this website once ready to begin enrollment.