A Charcot-Marie-Tooth Disease interview .

Éva's interview


How did all start?

My mother noticed in 2018 that my son no longer can walk on tiptoes. After a year the sports teacher in school sent me to a kinetoterapeut and from there I got sent to a neurologist where he got an EMG exam with cmt2 suspicion. We did whole exome and both have the same mutation, even tho I don’t have foot deformities yet. My 11 years old son have.

Do you already have a diagnosis? How long did it take you to get it?

I have, is CMT2A via exome in Spain- at Veritas International. Couple of months.

For what medical specialties have you been treated? What has been the most useful specialty for your?

Nothing useful till now. My son needs a foot surgery but still haven’t found à reliable doctor in Romania.

What has been the most useful thing for you so far?

Swimming, biking, and stretching (this he skips a lot, even tho he should not).

What have been your biggest difficulties?

Finding a good doctor to do him the surgery.

How has your social and family environment reacted? Have your social or family relationships changed?

Nothing changed. Not more care or more understanding… basically all is the same as was before the diagnosis.

What things have you stopped doing?

Nothing yet!

What do you think about the future?

I am not scared for my own future as I don’t have deformed feet yet and I pretty much can do everything for now, and I try not to think about the future at all. Take each day as comes.

So far, which years have been the best years in your life? What have you done during them?

I don’t remember which were my best years. I am in a depression but not CMT related.

What would you like to do if you didn’t have your condition?

I’d rather have my own feet deformed and my son to have them as mine. I only have cramps.

If you had to describe your life in a sentence, what would it be?

Trying to make the most out of my existence and hoping for a better next life.

Finally, what advice would you give to a person in a similar situation?

Keep walking and if you can’t crawl but keep going and never accept defeat!


Sep 6, 2021

By: Éva

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