02/12/2014:

İSİM: Lydia

Yaş: 45

ÜLKE: Birleşik Devletler

LGMD ALT TİPİ: LGMD2B / Miyoshi

KAÇ YAŞINDA TEŞHIS KONULDU? 41

İLK BELIRTILERINIZ NEYDI?
My first symptoms included: knees popping out of place, leg, foot, chest, neck, and arm pain, falling, lethargy, strange duck-waddle gait.

LGMD HASTASI OLAN BAŞKA AILE ÜYELERINIZ VAR MI?
Hayır

LGMD İLE YAŞARKEN KARŞILAŞTIĞINIZ EN BÜYÜK ZORLUKLARIN NELER OLDUĞUNU DÜŞÜNÜYORSUNUZ:
The progressive nature of the condition is frightening. The lethargy LGMD causes is debilitating as well. In addition to the condition, I find the lack of accessibility and social attitudes toward disabled people as very limiting.

EN BÜYÜK BAŞARINIZ NEDIR?
This is a hard one. Managing to work, care for small children and a mother with dementia and my elderly father (along with the assistance of my siblings), and earning a Bachelor’s of Social Work. Looking back, I am amazed that I was able to do it all.

LGMD BUGÜN OLDUĞUNUZ KIŞI OLMANIZDA SIZI NASIL ETKILEDI?
It has increased my empathy toward others and has been the impetus for my development of a disability consciousness.

DÜNYANIN LGMD HAKKINDA NE BİLMESİNİ İSTİYORSUNUZ?
Firstly, that they know about it at all. Even most medical professionals are unaware of this condition.

Secondly, it is progressive and debilitating.

Thirdly, I feel fairly safe in saying that most of us who have it would prefer otherwise, which is why research and public awareness are so vital.

Fourthly, and this is an example, recently in one of our online groups, people with my condition were discussing the five things that they would like to do if cured. Things such as holding their children and giving loved-ones hugs. This is the pernicious reality of LGMD.

LGMD HASTALIĞINIZ YARIN "TEDAVİ" EDİLEBİLECEK OLSA, YAPMAK İSTEYECEĞİNİZ İLK ŞEY NE OLURDU?
I would love to be able to go on a hike in a wooded area with my family.