About the Friedreich's Ataxia Program
At the Friedreich's Ataxia (FA) Program, we follow up to 300 patients a year with Friedreich's ataxia (FA), a rare, progressive neurogenetic condition found in approximately 1 in 50,000 people. FA is characterized by progressive lack of coordinated movement and loss of balance. Individuals may also experience cardiac dysfunction, scoliosis, diabetes, vision and hearing difficulties. 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.
The FA Program is part of the Friedreich’s Ataxia Center of Excellence, established in March 2014 by Children’s Hospital of Philadelphia, Penn Medicine, and the Friedreich’s Ataxia Research Alliance (FARA). This first-of-its-kind collaboration is dedicated to promoting FA research and clinical care, as we work towards the shared goal of advancing treatment of the disease.
Specialized care and support
For patients
At Children's Hospital of Philadelphia, patients will find comprehensive care from a team of FA experts, from initial diagnosis and testing through long-term disease management. A team of physicians, genetic counselors, nurses, educators and clinical researchers will provide the dedicated support you or your child need.
Although there is currently no cure for FA, your or your child's care will be based on the latest research findings and approaches in managing symptoms and improving quality of life. Your medical team will keep you updated on the latest research to help you better understand the natural progression of FA and identify new therapeutic approaches.
For families
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.
Research
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 you might have the opportunity to participate in these clinical studies and to benefit from any research advances that are applied to patient care.
Being a part of the Friedreich's Ataxia Center of Excellence sets us up to continue these important research efforts by making critical funding available.
Comprehensive clinical services
Our clinical services range from evaluation and diagnosis to treatment, and focus on:
- Promoting normal growth and development
- Slowing the progression of FA
- Preventing and treating common FA complications, including hypertrophic cardiomyopathy, a condition where the heart muscle is abnormally thick, and heart rhythm abnormalities
- Helping you integrate even the most complex care regiments into your or your child's daily life
- Accessing services to maximize independence and optimal quality of life (eg, driving evaluations, school services, assistive devices at home)
- Developing educational programs for patients, families and community care providers
Additional consultations
The Friedreich's Ataxia Program team has easy access to the many subspecialties at Children's Hospital of Philadelphia, such as Cardiology, Endocrinology, and Orthopedics. We refer patients to these specialists as needed, based upon our evaluation findings, and work together with other specialists in a collaborative manner to optimize patient care.
For example, we have established a coordinated channel for integrating cardiac expertise into the standard of care for patients with FA. Cardiac care for FA patients at CHOP includes dedicated support from a team of physicians and nurse practitioners who specialize in cardiomyopathy and advanced heart failure therapies.
All of our experts work together to better understand how FA affects the heart and how other symptoms and complications impact your child’s health.
