Friedreich Ataxia: questions for your appointment

Friedreich ataxia (FA) is a genetic disorder that causes progressive damage to the nervous system and the heart. The condition affects both children and adults, with symptoms usually beginning sometime before the age of 25 (though symptoms begin later in some cases). FA is a lifelong condition that requires ongoing care and treatment.

Treatment for FA focuses on managing symptoms, easing discomfort, and maintaining quality of life while living with the condition—however, treatment may change over the next years, as there are numerous therapies that are under development, including gene therapies and medications to slow disease progression. The first medication to treat FA in people ages 16 and older was approved in 2023.

People who are living with FA will work with a team of healthcare providers who have different specialties. These can include:

• Neurologist
• Physical therapist
• Occupational therapist
• Genetics counselor
• Cardiologist
• Orthopedist
• Speech-language pathologist

Effective communication between all members of a healthcare team is essential to getting the best care.

Strategies for successful appointments

As a person with FA or a caregiver, it helps to be prepared for your appointments. Appointments are a time to review symptoms, discuss your current treatment, and make decisions about the next steps in a treatment plan.

Prepare before an appointment:

• Write down a list of questions and topics you want to cover and prioritize the questions and topics that are most important for this appointment.
• Gather any information your healthcare provider has requested, such as medical records, test results, or other paperwork.
• If you’re unsure about something, call ahead and ask. For example, if you need to do any preparation (like fasting) before a test, or if you’re unsure of what to wear or bring to a physical therapy or occupation therapy appointment.
• Plan out the day of the appointment. For example, do you want or need someone else to accompany you to take notes, help with transportation, or just provide emotional support.

Be prepared to update your healthcare provider about:

• Any changes in symptoms, such as changes in movement, coordination, and speech, and any changes in how you feel (for example, if you’ve noticed a change in how much energy you have or if you’ve been getting tired more easily).
• Anything that has become more difficult, challenging, or frustrating, either physically or mentally. You can also bring up anything that you are concerned about becoming more difficult in the future. An important part of treatment is addressing the impact of FA.
• Your moods, thinking, behavior, and emotions. FA affects mental health, and the condition has been associated with depression and cognitive changes in some people. Mental health and support should be a focus of treatment.

Discuss your current treatment and next steps in treatment:

• Review any medications that are currently a part of treatment for FA or other health conditions (such as cardiac disorders or diabetes, which are common among people who have FA).
• Review any non-medication therapies that are part of your treatment plan, such as physical therapy, occupational therapy, and speech therapy.
• Review how the different parts of your treatment plan work together to help manage FA, including the goals of different treatments and the kind of result you can expect from each treatment.
• How do you feel about the different parts of your treatment plan? What do you feel is helping? Is there anything you feel your treatment plan is not addressing?
• Ask if your healthcare provider recommends any changes to your current treatment plan.

If you are prescribed a new therapy or medication:

• How does the therapy work and why is it recommended?
• What kind of result can you expect?
• Are there potential side effects or other risks?
• What does the therapy cost?
• If you are prescribed a medication, ask if it can interact with other medications.
• Keep a list of all medications that you take, and make sure all of your healthcare providers have an updated list.

After each appointment, know the next steps. This includes prescriptions, follow-up appointments, accessing medical records or test results, and who to contact if you have a question.