이름:  Saira

나이: 29

국가: Indian living in the UAE

LGMD 하위 유형 (if known): LGMD 2B/R2 Dysferlin-related

 

몇 살에 진단받으셨나요?:

I was diagnosed at the age of 16. I got the genetic confirmation in February 2020.

첫 증상은 무엇이었나요?:

Falling all of a sudden and getting up from sitting down on the ground were the first symptoms.

다른 가족 중에 LGMD를 앓고 있는 사람이 있나요?

No, none of my family members have LGMD. I am the only one diagnosed with LGMD.

What do you find to be the greatest challenges in living with LGMD:

Environmental barriers and wheelchair accessibility. Employment opportunities without the stigma attached on abilities that I have.  Lack of neurologists interested in LGMD and quick diagnosis response. Progression of LGMD, and how to deal with the ongoing challenges associated with the disease. Little to no guidance about the types of equipment that could be helpful for day-to-day activities.

가장 큰 성과는 무엇인가요?:

Starting a new job with a company in the UAE and them letting me work from home as an accessible accommodation to include me. Now I work every day at Inclusive to create a global impact and make this world more accessible Online and Offline.

LGMD가 지금의 자신을 만드는 데 어떤 영향을 미쳤나요?

It has given me a new perspective on life and thought me to value my time and present abilities.

I may not be able to do everything physically like the next person but, that does not mean I have nothing to contribute to making an impact in the world we all share equally.

LGMD has taught me to be grateful about my family more so than before with their constant support.

It has made me live and love every moment ever more.

Since it is a degenerative disease, it progresses, things I may be able to do today, may not be the things I could be able to do in the coming year. So, I try to enjoy every physical movement I can do today, right now. Starting from combing my hair to making a cup of tea for myself, I value it.

LGMD에 대해 전 세계에 알리고 싶은 내용:

I want the world to know that this is a rare disease. It could happen to anyone. It could be you who are reading this, or it could be someone you may not know who might be living with this. But people are living with this muscle-wasting disease, that awaits its cure. I can give you an example of the pandemic and how scientists all around the world are racing to find a vaccine. Whereas for LGMD, research is going for decades without results, lack of funds or lack of government support are a few reasons for it. Starting from symptoms to diagnosis until the day I accepted LGMD and started living with it, has been a lonely journey. Support of my husband, family to friends is something that gives me courage every day. Lack of specialists, lack of proper knowledge about it is something that I face at every doctor’s visit. We need empathy in an environment without barriers. I was walking yesterday, and today I need a wheelchair. The justification of my condition will be easier if people would know about LGMD.

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

The question I am answering is hypothetical. How I wish to have answered it as if it were practical and I look forward to the day with positivity and hope.

The day is maybe far, or it could be soon. I would love to go down on my knees and pray like I want to as we do in my religious belief. I would love to dance and skate, which I am no longer to do as I live with LGMD. I wish to drive a car. I long to become independent again.