The Neverending Story of Freidrich Ataxia and Where to Find Help

Before we take a look at a rare disease called Freidrich ataxia, or FA, let’s first understand the meaning of the word “ataxia.”

Ataxia includes loss or lack of muscle control and coordination. This impacts speech, swallowing, walking, and eye movements (such as blinking). It covers a broad spectrum of neurological impairments.

Freidrich ataxia is a hereditary genetic disease that is progressive in nature.

It slowly compromises the patient’s central nervous system. One of the most telling symptoms is heavily slurred speech and loss of motor control. Fortunately, it doesn’t impair cognitive function.

The onset of symptoms usually occurs when the patient is between the ages of five and 18. Parents of children with FA generally assemble a medical team that includes a primary care physician, a neurologist, and a cardiologist.

HULU tv nbc scrubs high five
Teamwork between doctors is the way to go. Source: www.giphy.com

Orthopedic specialists may also be included if the patient develops scoliosis, which is fairly common in FA patients. Some patients also require physical therapy and the services of a physicatrist. To date, there is no cure, and no overall effective treatment for FA.

But this writer is holding onto hope because of the great strides being made in the field of gene therapy.

If your child has FA and you need support, or just want to communicate with other parents sharing your journey, contact the FA Parents’ Group–they welcome new members.

For more information, contact any of the organizations listed below:

Brain Research and Information Network (BRAIN)
braininfo@ninds.nih.gov
http://www.ninds.nih.gov
Tel: 800-352-9424

Friedreich’s Ataxia Research Alliance (FARA)
fara@CureFA.org
http://www.CureFA.org
Tel: 703-426-0643

National Ataxia Foundation (NAF)
naf@ataxia.org
http://www.ataxia.org
Tel: 763-553-0020


Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

Share this post

Share on facebook
Share on google
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email
Close Menu