Since their first experience at CHOP in 2015, Anna’s parents have felt welcomed and supported by the team in CHOP’s Friedreich’s Ataxia Program. Team members go out of their way to make their daughter feel comfortable and cared for, and they have a sincere commitment to providing care that takes the whole child into account.
Kristin first noticed an issue with her daughter Anna’s balance during field hockey practice. Kristin, who is the field hockey coach, had the team do the grapevine drill to warm up. The drill involves running sideways with the feet crossing in front and behind each other.
Anna, 9, had always been a natural athlete, so it struck Kristin as strange when her daughter struggled to get through the drill without tripping. Then, in the days and weeks that followed, Kristin noticed something different about Anna’s stride and that she stumbled and fell more often on walks to school.
“This was a kid who rode a bike at age 4,” says Kristin. “She was very physically able, and I started notice her regressing.”
Kristin mentioned her concerns at Anna’s next well visit, so the pediatrician performed a brief neurologic examination to assess Anna’s coordination, muscle tone, reflexes, gait, mobility and spine. The pediatrician noticed signs of possible scoliosis and referred Anna to a pediatric neurologist near the family’s home in Baltimore.
The pediatric neurologist Anna saw performed a more thorough physical examination. At the end of the appointment, the neurologist said he was 80% sure Anna had Friedreich’s ataxia (FA), a rare neurodegenerative disease that causes progressive damage to the nervous system. FA affects the spinal cord, peripheral nerves, and the brain, resulting in uncoordinated muscle movement, poor balance, difficulty walking, changes in speech and swallowing, and a shortened lifespan. It can also cause heart disease.
Confirming FA diagnosis
The neurologist recommended genetic testing to confirm the diagnosis. Over the next few weeks, as Kristin and her husband, Ben, anxiously awaited the test results, a family friend recommended the Friedreich’s Ataxia Program at Children’s Hospital of Philadelphia (CHOP), which is only about two hours north of Baltimore.
From initial diagnosis and testing through long-term disease management, CHOP’s FA Program provides comprehensive care for children and adults from all over the world with this rare, progressive neurogenetic condition. It is the largest FA clinical program in the world.
Kristin was blown away when one evening, less than 10 minutes after she had submitted a contact form on the center’s website, Program Director, David Lynch, MD, PhD, called. When results from Anna’s genetic test came back positive for FA, the family knew where to turn. That first encounter with Dr. Lynch in 2015 when Anna was 9 set the stage for the level of care the family has received at CHOP every day since.
“We felt extremely comfortable in Dr. Lynch’s care,” says Kristin. “This is a disorder that has no treatment or cure, however, there are clinical trials going on and progress is being made. We felt optimistic that there were things we could do. As we have met other FA families under the care of Dr. Lynch over the years, we see and realize that this level of care and attention is given to all of his patients.”
Accelerating progress through research and advocacy
Although rare, Friedreich’s ataxia is the most common form of hereditary ataxia in the United States, affecting about one in every 50,000 people. The Friedreich’s Ataxia Program at CHOP is part of the Friedreich’s Ataxia Center of Excellence, a first-of-its-kind collaboration of leading experts in FA committed to promoting research and clinical care.
Dr. Lynch co-directs the Center. The research conducted by his lab team has led to a greater understanding of the metabolic dysfunction underlying FA, the creation of a patient database, and a pipeline of more than 20 drug candidates that represent potential new therapies.
Anna has participated in multiple research studies and clinical trials, including Dr. Lynch’s natural history study, which is funded by the Friedreich’s Ataxia Research Alliance (FARA). Every year, Anna, her three siblings and their parents travel together to Philadelphia to participate in rideATAXIA, an annual bike ride to raise funds for FARA's mission to treat and cure FA through research.
For a study focused on the impact of exercise, Anna had to follow a specific strength training regimen. Being part of that study helped her establish a routine and see how maintaining her mobility and stamina could help slow the progression of FA symptoms.
“The experiences that we have been provided through the Center of Excellence have been absolutely amazing,” says Kristin. “There is so much progress being made. We feel so fortunate to be able to participate the way we are.”
During every neurology, cardiology, drug trial, and research appointment at CHOP, the family has always been in awe of the dedication and kindness they experience. The teams at CHOP go out of their way to make Anna feel comfortable and cared for, they accommodate the family’s schedule, and they take Anna’s whole health into account.
Motivated for a bright future
CHOP was a lead study site for the clinical trial that led to the recent approval of omaveloxolone (Skyclarys), a once-a-day oral pill meant to improve neurological function and slow the progression of FA. It is the first treatment approved by the U.S. Food and Drug Administration (FDA) for the disease. Dr. Lynch’s natural history study served as the background research that paved the way for this development.
In studies led by Dr. Lynch, omaveloxolone was shown to effectively send patients back in time, on average, by a year or two and keeping them at that disease state for three to four years. Anna will begin taking the medication once it’s available, which is currently expected to be in August 2023.
Anna, now 17, is a junior at an all-girls high school. She is passionate about sports and loves to stay busy. After school, she serves as the manager for the lacrosse, basketball and field hockey teams. She plans to go to college and major in a sports-related field and continue participating in FA research and advocacy efforts.
“I think she feels proud to participate in the studies,” says Kristin. “She feels she’s doing her part to further the research.”