LGMD "Spotlight röportajı"

İsim:  William  Yaş: 62 years old

Ülke: Birleşik Devletler

LGMD Alt Tipi:   LGMD D1 DNAJB6-related (Formerly LGMD type 1D)

Kaç yaşında teşhis konuldu?:

I was clinically diagnosed at the age of 40 and then 5 years later, at the age of 45, I received genetic confirmation of my LGMD 1D diagnosis.

İlk belirtileriniz neydi?:

As a child I was slow.  Around the age of 45, I experienced difficulty running.

LGMD hastası olan başka aile üyeleriniz var mı?

Yes, my brother who is 67 has LGMD1D and so does my daughter.

En büyük zorluklar olarak neleri görüyorsunuz? LGMD ile yaşamda:

The greatest challenge for me has been adjusting to the weakness and having to gradually slow down.

En büyük başarınız nedir?:

My greatest accomplishment has been starting the LGMD-1D DNAJB6 Foundation which is a non-profit public foundation whose mission is to maintain a central location for individuals diagnosed with Limb Girdle Muscular Dystrophy type 1D (LGMD1D) to meet, consolidate relevant news, and launch fundraising efforts in order to advance research.  https://lgmd1d.org

I have also established a Patient Registry for all patients diagnosed with an autosomal dominant form of LGMD.  (LGMD type 1)

LGMD sizi nasıl etkiledi? Bugün olduğun kişi:

LGMD has impacted my life and who I am today.  Slowing down has made me appreciate what is around me, family, friends and connects.

Dünyanın LGMD hakkında ne bilmesini istersiniz?:

We need to continue to spread the word and connecting in ways that aids in a cure.  For instance, an autosomal dominant LGMD (LGMD type 1) patient registry will be vital to research and finding a cure.

LGMD hastalığınız yarın "tedavi" edilebilseydi, ne olurdu? yapmak isteyeceğiniz ilk şey:

If I were cured tomorrow, I would go dancing and play soccer with my grandgirls!!