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Sunday, December 8, 2013
Inherited Disorders and Birth Defects
Pregnancy and My Friedreich`s Ataxia
Did my pregnancy speed up my Friedreich`s ataxia? If so, how fast because I`m now in a wheelchair all the time? Will my baby have any of the heart problems?
I am not aware that pregnancy would speed up symptoms of Friedreich's ataxia. However, this question would be better answered by a obstetrician.
As you know, Friedreich's ataxia (FA) is a slowly progressive ataxia (a loss of balance and problems coordinating movement of legs and walking) that usually starts in the mid teens and usually before the age of 25 years. People with FA usually have absent reflexes in the legs, dysarthria - trouble swallowing or problems with speech, a loss of sensation in the lower legs and muscle weakness. They may also have scoliosis (curvature of the spine), pes cavus (the breast bone sunken in), heart problems and glucose intolerance, or diabetes
It is caused by a mutation (change) in a gene called frataxin that is on chromosome 9. It is inherited in an autosomal recessive manner - that is both parents must be carriers for the gene and they have a 25% chance of both passing the mutated gene on at the same time and having an affected child.
Because you have FA, you have 2 non-working copies of the gene that causes FA, thus, all of your children will be carriers of FA. Carriers for FA have one working gene and one gene that is non-working, the mutated gene. Carriers usually have no problems or symptoms of FA. In order for you to have children that also have FA, your husband would have to be a carrier for FA as well. If your husband is not affected and does not have any affected relatives - his chance to be a carrier is the general population risk for this disease - about 1 in 90 - according to the FA Research Alliance. So in your case, there would be a 1 in 360 chance of having a child affected with FA.
I would recommend you talk to your obstetrician about how pregnancy is affecting your FA symptoms. Your question about whether your baby could have problems related to FA is an excellent question to discuss with a genetic counselor or geneticist. You can locate a genetics center near you at the National Society of Genetic Counselors' Resource Center below. Also, there is very good information about FA at the FA Research Alliance website, also below.
Anne Matthews, RN, PhD
Associate Professor of Genetics
School of Medicine
Case Western Reserve University