LGMD "스포트라이트 인터뷰"

이름:  William  나이: 62 years old

국가: 미국

LGMD 하위 유형:   LGMD D1 DNAJB6-related (Formerly LGMD type 1D)

몇 살에 진단받으셨나요?:

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.

첫 증상은 무엇이었나요?:

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

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

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

LGMD와 함께 생활하면서 가장 큰 어려움은 무엇이라고 생각하시나요? 가장 큰 어려움은 무엇인가요?:

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

가장 큰 성과는 무엇인가요?:

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)

LGMD가 지금의 당신이 되기까지 어떤 영향을 미쳤나요? 어떤 영향을 미쳤나요?

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

LGMD에 대해 전 세계에 알리고 싶은 내용:

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.

만약 내일 LGMD가 "완치"될 수 있다면 가장 먼저 하고 싶은 일은 무엇입니까?:

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