"مقابلة في دائرة الضوء"

الاسم:  William  العمر: 62 years old

البلد: الولايات المتحدة الأمريكية

النوع الفرعي LGMD:   LGMD D1 DNAJB6-related (Formerly LGMD type 1D)

في أي عمر تم تشخيصك:

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.

ما هي أعراضك الأولى:

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

هل لديك أفراد آخرون من عائلتك مصابون بداء تضخم الغدد اللمفاوية الجنيني:

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

ما هي أكبر التحديات التي تواجهك في التعايش مع داء الليثيوم المتعدد الكيسات:

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

ما هو أعظم إنجازاتك:

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)

كيف أثرت فيك LGMD لتصبح ما أنت عليه اليوم؟ الشخص الذي أنت عليه اليوم:

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

ما الذي تريد أن يعرفه العالم عن LGMD:

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.

إذا كان من الممكن "علاج" مرضك بالتهاب الغدد اللمفاوية الروماتويدي غدًا، فما هو سيكون أول شيء تريد القيام به:

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