Sarah Kennedy had just given birth to her second daughter last December when her 16 month old daughter, Brielle, was diagnosed with spinal muscular atrophy (SMA) type II. Five days after hearing this devastating news, her husband Eric was deployed to Afghanistan with the Army. While they were apart, Eric and Sarah were forced into action to determine how best to care for Brielle and also to deal with the possibility that the new baby, Brooke, may also be affected by the disease. While Eric was deployed, Sarah tackled the heavy work of contacting doctors and therapists and creating a plan for Brielle’s treatment and on top of all that, decided to have Brooke tested. When Brooke also tested positive for SMA type II, she was enrolled in the “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” (or “STOP SMA”) study being conducted by Dr. Kathryn Swoboda at the University of Utah, with funding from FightSMA.

Brielle with Chad Knaus

The extended Kennedy Family became involved with the larger SMA community, participating in fundraisers and contacting their Congressional Representatives about the SMA Treatment Acceleration Act. Sarah’s sister in North Carolina, Christen, introduced her co-workers at Hendrick Motorsports to SMA. After meeting Brielle for the first time at a race in Michigan, (with Christen’s help), Chad Knaus, the crew chief for three-time NASCAR Sprint Cup Champion driver Jimmie Johnson, became interested in this little known disease and asked what he could do to help raise awareness.

Chad started by adding informational links about the disease to his personal website, but recently he has gone a step further. Chad will be sponsoring a hole at the upcoming Jimmie Johnson Foundation Annual Golf Tournament and has chosen to include the FightSMA logo on the sign posted at the sponsored hole. We thank Chad Knaus and the Jimmie Johnson Foundation for including FightSMA and for this wonderful opportunity to raise awareness of SMA.

The Virginian-Pilot newspaper printed a story Sunday about the family leading FightSMA’s chapter in Virginia Beach, Virginia. The article touched on aspects that many families affected by spinal muscular atrophy (SMA) face: the shock of the diagnosis, the struggle to fight the disease, and the loss of a child. But, the article also recognized the promise and hope brought about by research being done around the country and the need for the fight to continue.

The Saville Family openly speaks about their experience of learning their daughter Morgan had SMA, of raising awareness and funding, of seeking treatment, and of her death in 2005. They also discuss how their efforts to defeat SMA have been renewed following their new baby’s birth, diagnosis, and enrollment in Dr. Kathy Swoboda’s pre-symptomatic study, funded in part by FightSMA. Stacy Saville and her son, accompanied by Virginian-Pilot photographer Genevieve Ross, attended the FightSMA Annual Conference in April and traveled to Capitol Hill to advocate for the SMA Treatment Acceleration Act.

To read the full article, click here. Below is a lovely slide show that the paper also put together.

FightSMA is funding a new study called “Prospective Phase I/II Study to Evaluate Effects of Sodium Phenylbutyrate in Pre-symptomatic Infants with Spinal Muscular Atrophy” or “STOP SMA” being conducted by the laboratory of Dr. Kathy Swoboda at University of Utah School of Medicine. The study will assess the safety, tolerability and potential efficacy of sodium phenylbutyrate (NaPB) in presymptomatic infants genetically confirmed to have SMA.

Sodium phenylbutyrate (NaPB) is a medicine that has been used for many years to treat patients with urea cycle disorders. Recent research suggests that NaPB may be able to prolong survival in animal models of motor-neuron disease. In addition, pilot data in human infants have suggested a possible benefit of early administration of NaPB. Since significant motor-neuron loss occurs in the first few weeks to months of life in the most severely affected infants, the earlier that NaPB treatment can be started, the greater the potential benefit in delaying onset and lessening severity of SMA symptoms.

For more information about this study, including eligibility criteria, and for links to other clinical trials, please visit the FightSMA website.