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Living with Friedreich's Ataxia

You probably have never heard of Friedreich’s Ataxia – a devastating, genetically-based neurological disorder that progressively takes away a child's motor skills, speech skills, bone and muscle strength – and, ultimately, his or her life.  As yet, there is no known cure.  In this show you’ll meet the children, families, and doctors who are living and dealing with “F.A”, and see for yourself what can be accomplished through the power of sheer determination, and of a refusal to be defeated, despite the odds.

Guests:

David Lynch, MD - Director, Clinical Trial Network for Friedrich’s Ataxia; Departments of Neurology & Pediatrics, University of Pennsylvania 
Mary Purdy, PhD - Communication Disorders Specialist; Associate Professor, Southern Connecticut State University, Department of Communication Disorders
Samantha (Sam) Bode - FA  Patient, Age 20
Alexandria (Alex) Bode - FA Patient, Age 17 (Samantha’s sister) 
Mary Caruso - Sam and Alex’s Mother
Alex Orth - FA Patient
Mary-Lisa Orth - Alex’s Mother  
Donovan Simpson - Age 10
Debra Simpson - Donovan’s Mother
Norman Simpson - Donovan’s Father

What is Friedreich’s Ataxia?

  • About 100,000 people in the US have an inherited disorder that we call “ataxia,” which means that they have a loss of coordination in their arms or legs, or sometimes in other parts of their body. 
  • One of the most common forms of ataxia is called Friedreich’s Ataxia (or “FA.”).  
  • The symptoms include:
    • Difficulty with balance (disequilibrium)
    • Impaired coordination of the legs or arms (ataxia)
    • Tthick or slurred speech (dysarthria)
  • Symptoms are likely to worsen over time. 
  • People with FA also are likely to develop curvature of the spine, or difficulty knowing where their feet or hands are in space, or weakness in the hands or legs, as well as enlargement of the heart, irregular heartbeat, or other symptoms of heart trouble (cardiomyopathy).
  • About 10 percent of people with FA also eventually develop some hearing or vision loss.
  • The first symptoms of FA usually begin between ages 5 and 25, but can sometimes happen earlier or later

How do you get FA?

You cannot “catch” Friedreich’s Ataxia (FA) – it’s an inherited disorder, and it’s caused by a defect in a gene that is passed on from parent to child.  FA is a “recessive” disorder, which means that to inherit the disorder, a child must get one FA gene from each parent – a total of two.  If a child inherits only one FA gene, he or she will be a “carrier” who can pass the gene on to the next generation, but the carrier will not have FA or exhibit any of its symptoms.

Here’s how it works:

Approximately 1 out of every 100 people, male or female, carries an FA gene.  This makes them a “carrier,” but they won’t know that they carry the gene unless they happen to have a reason to get tested for it (eg, another family member has FA).  The gene that causes FA was only discovered a few years ago.  Before that, testing wasn’t even possible.

When two carriers do marry and have children, the statistical likelihood (not guarantee) of passing the gene on to their children breaks down like this:

  • 1 in 4 of the children whose parents are both carriers will, nevertheless, get NO FA genes from their parents, and will have therefore have no danger of passing any FA genes on to their own children
  • 2 out of each 4 children of FA carriers will become carriers themselves – they’ll inherit one gene, and can pass it on to their children, but they will exhibit no symptoms themselves
  • 1 in 4 of the children whose parents are carriers will inherit a gene from each parent – a total of two – and will have FA

The result:  approximately 1 in every 20-50,000 children will be born with FA, though it may take a number of years for the symptoms to manifest themselves.  Estimates are that approximately 6,000 Americans have FA.

However, the statistical breakdown above  (ie, 1 in 4 children of  FA carriers will have FA) does not necessarily apply in any one family; rather, these statistics are reflective of the percentages that apply to the population as a whole.  So when two carriers marry, there is no guarantee that 1 in 4 of their children will have FA.  For example, in the Caruso/Bode family in this program, there were only 2 children – and both developed FA. 

Resources:

Friedreich’s Ataxia Research Alliance (FARA)
www.cureFA.org
P.O. Box 1537
Springfield, VA 22151
Phone: (703) 426-1576
Fax: (703) 413-4467
Email: fara@CureFA.org

The National Ataxia Foundation
 http://www.ataxia.org/.
2600 Fernbrook Lane Suite 119
Minneapolis. MN 55447-4752
(763) 553-0020
fax: (763) 553-0167
Web: http://www.ataxia.org/
E-Mail: naf@ataxia.org

People with Friedreich’s ataxia are welcome to participate in any of the support groups affiliated with the National Ataxia Foundation. Support groups throughout the United States can be found on the National Ataxia Foundation’s web site.  The group is “dedicated to improving the lives of persons affected by ataxia through support, education, and research.”  It is a non-profit organization whose primary purpose is to “support promising ataxia research and to provide vital programs and services for ataxia families.”  They also offer connections to doctors in parents’ area, financial planning, and many other avenues for families to connect with one another.

The National Institutes of Health
http://www.nih.gov/
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