05/7/2015

Nome: Claudette
Età: 51 anni
Paese: Canada
Sottotipo LGMD: LGMD1A / Myotilinopathy

A CHE ETÀ È STATA FATTA LA DIAGNOSI:

I was diagnosed at the age of 39.

QUALI SONO STATI I PRIMI SINTOMI:

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

HA ALTRI FAMILIARI AFFETTI DA LGMD?:

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

QUALI SONO, SECONDO LEI, LE MAGGIORI SFIDE NEL VIVERE CON LA LGMD:

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.

QUAL È IL SUO PIÙ GRANDE RISULTATO:

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!

IN CHE MODO LA LGMD L'HA INFLUENZATA NEL DIVENTARE LA PERSONA CHE È OGGI:

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!”

COSA VOLETE CHE IL MONDO SAPPIA DELLA LGMD?:

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.

SE LA VOSTRA LGM POTESSE ESSERE "CURATA" DOMANI, QUALE SAREBBE LA PRIMA COSA CHE VORRESTE FARE:

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.