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Awaiting Results
As we discuss rare diseases this month, I think back to around this time 4 years ago when my son, Noah, was awaiting results to find out if he had Friedreich’s ataxia. Our family lives in Alabama, so we traveled to Birmingham’s Children’s Hospital to see the genetics department there.
There are such mixed feelings as you wait for the results of genetic testing. On one hand, you just really want some answers. Noah had been seeing specialists for a few years about individual symptoms without receiving any answers. We wanted to know what was causing all of these issues for him.
But, on the other hand, finding out that your child has a rare disease — in FA, only about 1 in 50,000 — is extremely isolating and overwhelming.
How did you and your family feel as you awaited test results? Was there anything that helped give you peace in the midst of this scary time?
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3 Replies
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It can be a scary and unnerving feeling for sure.
In the interim of getting my test results confirming FA, my family and I got involved right away. We reached out to FA Support Groups online and even attended our first rideATAXIA event in our local area (Philly). It was overwhelming, but this way were able to connect and meet families and hear their experiences first hand.
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That’s great that you and your family were able to get involved right away! Meeting other people going through the same thing makes such a big difference!
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It really does!
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