01/30/2016

LGMD "Wywiad w świetle reflektorów"

Nazwa:  Thomas                                AGE: 31

KRAJ: Switzerland

Podtyp LGMD: LGMD 2B / Miyoshi Myopathy

 

W jakim wieku zostałeś zdiagnozowany?:

My first diagnosis (biopsy) was at 28, followed by the proof with genetic test one year later.

Jakie były pierwsze objawy?:

That is not so easy to say. Now I know where I have to look at, so many examples out of my memories came up; in my childhood we had a steeply rising stair around our home, where I always had difficulties to climb because the steps are very short. In teen age I started snowboarding, there I was not able to give much pressure to the front edge of the board. As young adult I could not jump to the music in discos. At age 24 / 25 I realized that I was not able to stand on my toes and my calve-muscles are actually inexistent. In the last few years I saw that my leg and arm muscles are shortening.

At 18 my doctor told me that I have too high creatine kinase values in my blood. It was around 250 – 300 somethings, too low for well-known diseases and too high to be normal. Now I know that this was the first medical indicator to Miyoshi.

Czy masz innych członków rodziny cierpiących na LGMD?

Yes, my sister has LGMD too. Her symptoms (stand on toes, creatine kinase) are the same, but she seems to be less affected.

Co uważasz za największe wyzwanie w życiu z LGMD?:

In my opinion, the greatest challenge is to accept this challenge! At the first time after diagnosis, it was hard to accept. You need psychological strength to deal with that. Also when you look at your course of disease, not to overrate or underrate the symptoms and effects. By looking into the future, you always have to plan things with LGMD in mind (maybe you need a wheel chair in 5, 7, or 10 years).

Jakie jest twoje największe osiągnięcie?:

To accept LGMD and enjoy doing things I won’t be able to do in future.

Jak LGMD wpłynęło na to, że stałeś się osobą, którą jesteś dzisiaj:

My diagnosis came just at the beginning of my Master study. Beside my Bachelor and Master study (fulltime study) I was working at weekends and school holidays. Now I work part time and have a good reason to enjoy my leisure time with my wife, our dogs and our garden. I value more what I have now.

Co chciałbyś, aby świat dowiedział się o LGMD?:

That it exists. I think there are many unrecorded cases of LGMD.

Gdyby jutro można było "wyleczyć" chorobę LGMD, co byłoby pierwszą rzeczą, którą chciałbyś zrobić?:

I have just lost my driver license for trucks and coaches because of Miyoshi. It was not only a job to finance my studies, it was also my hobby. So I would get it back and drive around.

 

Aby przeczytać więcej wywiadów "LGMD Spotlight Interviews" lub zgłosić się do udziału w nadchodzącym wywiadzie, odwiedź naszą stronę internetową: https://www.lgmd-info.org/spotlight-interviews.