Group Seeks to Shine Spotlight on Nemaline Myopathy

Monday is Rare Disease Day worldwide, and in Palo Alto, A Foundation Building Strength for Nemaline Myopathy is calling for participants to join its Awareness Events on Saturday. Nemaline myopathy is a neuromuscular disorder that causes muscle weakness, generally nonprogressive, of varying severity. Severe forms show up to 66 percent mortality rates before the age of 2.

The foundation was started by Palo Alto residents Dana and Marc Guillet soon after the birth to their third child, Ava. At birth, Ava had some obvious problems. Her hands and feet were mal-positioned, and her cry was very weak. The doctors thought that because she delivered quickly, she would come around within several hours. Three weeks later in the neonatal intensive care unit, Marc and Dana were still learning how to care for a child who had no diagnosis. At 7 months, Ava had a feeding tube placed directly through her stomach wall and a muscle biopsy confirming a diagnosis of nemaline myopathy.

She is walking now, though she falls more than typical children. She needs assistance in climbing stairs and continues to be fed by a G-tube. She is taking small sips of water but is primarily fed by a pump with specialized formula.

Ava still requires ongoing occupational, physical and swallowing therapy. She attends preschool part time and tries to keep up with her brother and sister.

The foundation is eager to raise funds to provide grants for five research studies this year. All money raised in the March 5 awareness event will go toward progressing research and resources for those affected by nemaline myopathy.

The events take place at Nixon Elementary School in Palo Alto beginning at 9 a.m., with check-in starting at 8:45 a.m.

Participants can choose to Walk the Dish, a 4-mile walk with Dana; do the Fitness Challenge A or B, a 17-minute workout with Marc, a physical therapist; Run Stanford Campus, 5- and 10-mile courses for any level of runner led by local elite, Olympian and national champion runners; or Bike Ride, for all levels of cyclists, led by elite and national champion cyclists for 30- or 50+-mile rides.

Nutritionists, acupuncturists, wellness coaches, pilates instructors, massage therapists and physical therapists will also be available to answer health questions. There will be supervised activities for children, ages 4-15.

Nemaline myopathy is one of more than 6,000 rare diseases that present challenges to patients and their families. More than half of them affect children. In the United States, a disease or disorder is defined as rare if it affects fewer than 200,000 individuals at any given time.

Converging around the slogan “Rare but Equal,” hundreds of patient organizations from more than 40 countries worldwide will have awareness-raising activities. This is the fourth International Rare Disease Day; the first one was on Feb. 29, 2008, “ a rare day,” indeed.