LGMD "INTERVISTA SPOTLIGHT"

Nome:  Fred   Età: 36 yrs. old

Paese: Stati Uniti

Sottotipo LGMD:  LGMD2A  / Calpainopathy

 

A che età è stata fatta la diagnosi:

Mi è stata diagnosticata all'età di 13 anni.

Quali sono stati i primi sintomi:

Looking back I was always slightly slower than the other kids but I can’t say there was one symptom which my parents or I noticed.  I was diagnosed on a fluke. I had gone skiing with a church group and ultimately broke my leg.  When I went to the hospital emergency room for my broken leg, a Dr noticed that I was not as strong as I should have been at that age.  That resulted in a muscle biopsy.  Initially, I was diagnosed with Becker’s MD, this was all pre-DNA testing.

Avete altri familiari affetti da LGMD:

No, sono l'unico.

Quali sono, secondo lei, le sfide più grandi da affrontare nella convivenza con la LGMD?:

The greatest challenge for me is not being able to hold my 7-month old without assistance. Constantly having to advocate for me as it pertains to this condition.  I never noticed how many people have “ableist” attitudes. The last for me would be not being able to freely visit friends and family.

Qual è il suo più grande risultato:

I have so many accomplishments, but if I could only choose one I’d say working my way off of SSI. After my diagnosis, I had given up hope of ever having a job, a car, a home, a family of my own etc. Today, I am a state police dispatcher, I drive, I have a beautiful family, I’m currently looking to purchase my first home, and I’m optimistic that when the time comes and I no longer can physically do the job I have that God will provide another opportunity.

In che modo la LGMD l'ha influenzata nel diventare la persona che è oggi:

LGMD has taught me how to fight for what I want.  It’s taught me that I’m never as limited as I may think.  Anything is possible.

Cosa volete che il mondo sappia della LGMD?:

That LGMD has not been cured yet but, with their help, it can be.

Se la vostra LGMD potesse essere "curata" domani, quale sarebbe la prima cosa che vorreste fare?:

Pick my little boy up, give him a tight hug, toss him up in the air and catch him.

 

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