05/7/2015

名称: Claudette
年齢: 51 yrs. old
国名:カナダ
LGMDサブタイプ: LGMD1A / Myotilinopathy

何歳で診断されたか:

I was diagnosed at the age of 39.

最初の症状は？:

My first symptoms included: difficulty with stairs, shoulder pain, shuffling or dragging my feet

家族にLGMD患者がいますか？:

Yes, my father, my brother and my sister also have LGMD.

LGMDと共に生きる上で、最も困難だと感じることは何ですか？

The challenges I face are minimal due to tremendous support from my family. I am hard pressed to find any one main challenge for me. I think my main difficulty though is watching my husband trying to do it all! There are so many household chores I used to do and can’t anymore, laundry, cleaning, meal prep, outside chores like cleaning vehicles or mowing the lawn! We used to be a great team but of course now he has taken over these tasks. He is my primary caregiver. He also holds a full-time and very demanding job. I am so grateful for his amazing love and support!

I know this is a very common issue for many people, not only for those of us living with LGMD. I think my disease is often harder for my family than it is for me.

あなたの最大の功績は何ですか:

My marriage, soon to be 29 years, and raising two fine boys to become strong, independent and hard working adults. Our eldest and his wife just became parents, so now I am proud to say I’m a grandmother to a beautiful baby girl!

LGMDは今のあなたにどのような影響を与えていますか？

My father was in a wheelchair for most of my childhood. We lived in a rural area where LGMD was rare and unfamiliar to medical people in the 1970’s. As a result, his condition was defined as a “rare neurological disorder”. He died in 1985. In the early 90’s his muscle biopsy from the 1970’s was matched to my brother’s, confirming LGMD. Throughout his illness, my father demonstrated a very off-beat sense of humor and a positive attitude. His influence has made me a rather positive person. My dad and my brother have inspired in me the courage to tackle anything LGMD will hand me. I live by the words “it could always be worse!”

LGMDについて世界に何を知ってもらいたいですか？:

Sometimes we don’t fit into a box. A hundred people could be diagnosed with LGMD at the same time, and most likely all of us will progress at different rates.

もし明日、あなたのラグム病が「治る」としたら、まず何をしたいですか？

If I were to be cured tomorrow, I would do something spontaneous. Something I wouldn’t have to plan or anticipate due to barriers, my own or otherwise.