05/7/2015

Имя: Claudette
Возраст: 51 год
Страна: Канада
LGMD Подтип: LGMD1A / Myotilinopathy

В КАКОМ ВОЗРАСТЕ ВАМ ПОСТАВИЛИ ДИАГНОЗ:

I was diagnosed at the age of 39.

КАКИЕ У ВАС БЫЛИ ПЕРВЫЕ СИМПТОМЫ:

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

ЕСТЬ ЛИ У ВАС ДРУГИЕ ЧЛЕНЫ СЕМЬИ, СТРАДАЮЩИЕ LGMD:

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

ЧТО, ПО ВАШЕМУ МНЕНИЮ, ЯВЛЯЕТСЯ НАИБОЛЬШЕЙ ТРУДНОСТЬЮ В ЖИЗНИ С ЛГМД:

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.

КАКОЕ ВАШЕ САМОЕ БОЛЬШОЕ ДОСТИЖЕНИЕ:

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!

КАК БОЛЕЗНЬ ЛГМ ПОВЛИЯЛА НА ТО, ЧТО ВЫ СТАЛИ ТЕМ ЧЕЛОВЕКОМ, КОТОРЫМ ЯВЛЯЕТЕСЬ СЕГОДНЯ:

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!”

ЧТО ВЫ ХОТИТЕ, ЧТОБЫ МИР УЗНАЛ О ЛГМД:

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.

ЕСЛИ БЫ ЗАВТРА ВАШ ЛГМД МОЖНО БЫЛО "ВЫЛЕЧИТЬ", ЧТО БЫ ВЫ СДЕЛАЛИ В ПЕРВУЮ ОЧЕРЕДЬ:

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.