Friedreich's Ataxia Program
At the Friedreich's Ataxia (FA) Program, we follow more than 150 patients a year with Friedreich's Ataxia (FA). Our patients come here from all over the world, as both children and adults, and we address issues for patients with classical FA as well as those with adult-onset or less common features of the condition.
Specialized care and support
Our team of FA experts provides comprehensive care, from initial diagnosis and testing through long-term disease management. Although there is currently no cure for FA, we utilize the latest research findings and approaches in managing symptoms and improving quality of life. We also keep our patients updated on the latest research so they can better understand the natural progression of FA and identify new therapeutic approaches. At CHOP, patients receive dedicated support from our team of physicians, genetic counselors, social workers, nurses, educators and clinical researchers.
Living with FA can be challenging for patients and their loved ones. For this reason, we actively support our patients' family members. We can identify resources and support groups to help families new to FA navigate the process. We encourage family members to become a part of the program’s support network. In addition, we sponsor an annual symposium for patients and their families, which addresses unique and pragmatic issues relevant to this population. This offers a unique opportunity to interact with others experiencing the same challenges.
Our researchers are actively involved in basic and clinical research studies. Our goal is to gain a better understanding of the biochemistry of FA and its natural progression, and to use this understanding to identify better treatments. We review any upcoming clinical trials with all patients, so that they might have the opportunity to participate in these clinical studies and to benefit from any research advances that are applied to patient care.
Comprehensive clinical services
Our clinical services range from evaluation and diagnosis to treatment, including emphases on the following:
- Promoting normal growth and development
- Slowing the progression of FA
- Prevention and treatment of complications
- Helping the family integrate even the most complex care regiments into their daily life
- Accessing services to maximize independence and optimal quality of life (eg, driving evaluations, school services, assistive devices at home)
- Educational programs for patients, families and community care providers
The Friedreich's Ataxia Program team has easy access to the many subspecialties at The Children's Hospital of Philadelphia, such as Cardiology, Endocrinology, and Orthopedics. We refer patients to them as needed, based upon our evaluation findings, and work together with other specialists in a collaborative manner to optimize patient care.