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My story with Friedreich’s ataxia (2 of 4)

Following my last article, I will continue to tell you my story. Last time around, I talked about my childhood and mentioned what was “wrong” with me. Today you are going to find out what is “wrong” there. So here we go!

For 11 months, I had all kinds of tests at CHEO (Children’s Hospital of Eastern Ontario). Echocardiograms, magnetic resonance imaging, DNA blood test results. I have done almost everything out there! In October 2009 (I remember it like it was yesterday), a neurologist called me into her office to tell me that she had one last test for me to take at the genetic clinic with my parents and my sister to pinpoint what I had. She still told me about the leads she had: either I had a problem with proteins not renewing quickly enough in my system, or I had Friedreich’s ataxia, an incurable disease. In the first case, it could be solved by pills to be taken every day for the rest of my life (not too bad). In the second case, my condition was bound to worsen especially in terms of my coordination, and I would end up using a wheelchair one day or another to get around. Yep, let us say there’s a nasty difference between the 2!

So you guessed it, I hit the jackpot with Friedreich’s ataxia. The results of the ultimate test at the CHEO Genetics Clinic therefore showed that:

My mother has a 25 gene on her chromosome 9 which has Friedreich’s ataxia (which is extremely rare), but her other does not, so for that reason she did not develop the disease.

My father also has a 25 gene on his chromosome 9 which has Friedreich’s ataxia (again, extremely rare), but his other does not have it, so he did not develop the disease either.

My father probably passed his gene 25 on his deficient chromosome 9 to my sister because she too has one in two with Friedreich’s ataxia (but we are not 100% sure that it comes from my father because that my sister’s mother did not pass the test). She therefore did not develop the disease.

In my case, I really hit the jackpot because my mom had a one in two chance of passing her gene 25 on her deficient chromosome 9 to me and she did, and my dad too had a one in two chance of me. pass his gene 25 on his deficient chromosome 9 and he did too. Anyway, since my two 25 genes on my 9 chromosomes have the disease, well I have Friedreich’s ataxia

I’m really sorry by the way if my explanations are not clear or if they are not perfectly correct (like I may have simplified my case too much), but this is what I understand from the biological part of my illness .

In general, Friedreich’s ataxia is an incurable degenerative genetic disease that affects the neuromuscular system and coordination. Usually, although people are born with this condition, it mostly develops during the growing period of adolescence. Friedreich’s ataxia can affect a lot of things, like balance, back, heart, thoroughness, speech, but it is always very different from person to person. While for some it becomes more and more impossible to write or speak without choking, in my case it reduces my balance to zero and it forces me to move around in a wheelchair.

So it was when I was 13 that I received the final diagnosis. At that point, no one could tell me how much my condition was going to deteriorate, but “for sure” it would happen eventually … impossible for me to improve. Honestly, I took the news well and I still take it well. As I have always been a super positive person, it was easy for me to see the glass half full, not half empty, and tell myself that I was going to have plenty of great opportunities that were going to arise in my life. life… which would certainly be different than if I were “normal”, but nevertheless all equally beautiful. At the same time, what is it to be “normal”? I am not an ordinary girl… I am an extraordinary girl!

I will stop here for today. This is probably the most scientific article I have written in my life (even considering my science lessons!). As you will probably have guessed, I am very far from being a doctor and it is not accuracy that I am advocating here, but authenticity and the way I understood and experienced it. So see you soon.



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