04/29/2015

الاسم:  Alicia

العمر:  38 yrs. old

البلد: الولايات المتحدة الأمريكية

النوع الفرعي LGMD: LGMD2A / Calpainopathy

 

في أي عمر تم تشخيصك:

I was diagnosed at age 35 after years & years of being misdiagnosed.

ما هي أعراضك الأولى:

Walking & running on my toes and climbing stairs were the first symptoms.

Do you have other family members who have LGMD:  No

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

One of the biggest challenges for me has been finding physicians who are educated when it comes to LGMD and the challenges & symptoms that come along with the disease.  Many doctors didn’t take my issues seriously (muscle pains, loss in strength, problems walking/stairs) or thought I had an autoimmune disease before I found a doctor that finally sent me to the Mayo Clinic. After an EMG, blood tests & a muscle biopsy I was finally diagnosed but it took many years and many doctors to get where I am at.

ما هو أعظم إنجازاتك:

Raising two amazing daughters with my husband of 14years has been an accomplishment and a blessing. Teaching them kindness and to be more empathetic towards people since we never really know the struggles of those around us.

كيف أثرت عليك LGMD لتصبح الشخص الذي أنت عليه اليوم:  

It has taught be to be kinder, listen more and laugh every day.  Sometimes all you can do is laugh.

ما الذي تريد أن يعرفه العالم عن LGMD:

That there are currently no treatments or cure for LGMD and if you have a family member or even a friend who has been diagnosed please educate yourself about the disease.  It could mean the world to someone.

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

Dance all night!