Intervista a riflettori accesi sulla LGMD

Nome:  Brenda  Età: 55 anni

Paese: Stati Uniti

Sottotipo LGMD: LGMD2A - nota anche come Calpainopatia

 

A che età è stata fatta la diagnosi:

I was diagnosed when I was 50 years old.

Quali sono stati i primi sintomi:

My first symptoms included:  falling, wrist drop, an unusual gait when walking with my hips out in front, leg cramps and rapid weight loss.

Avete altri familiari affetti da LGMD:

No other family member has LGMD.

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

The greatest challenge in living with LGMD is that I look normal and the disease if forever.

Qual è il suo più grande risultato:

Some of my greatest accomplishments include:  skiing the Alps, sea-kayaking the Atlantic coast, sea-kayaking Lake Champlain, and rollerblading the State of Vermont.  In addition, raising a healthy 17 year old daughter and being married for 25 years to an exceptional husband who loves me dearly no matter what!  I have also maintained a job as the Recreation Director of Vermont’s only 5-Star Resort for 22 years.

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

I have a positive attitude and stay healthy and happy no matter what.

Cosa volete che il mondo sappia della LGMD?:

I want to tell everyone that I am still the same Brenda who use to dance every chance I got and do cartwheels and backbends on the sandy beach at Gay Head Cliffs in Martha’s Vineyard.  The one who was first to get up slalom on water skis, the first to downhill, cross-country and telemark ski and first to ski the alps in Europe.  First to ski the headwall at Mt. Washington, Tuckerman’s Ravine.  The one to ski all the black & double black diamond trails at Killington ski Resort in Vermont including all the wood’s trails for 30 years.  I will never let this disease label me or bring me to a bed ridden state.  Dr. Anthony Amato said “Good Long Life” ahead at 50 when I was diagnosed.  I want to let the world know that someone with a disability is just like you!

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

Dance with my husband without fatigue.  Ski the powder trails with perfect turns.  Walk on a sandy beach without fatigue.  Hike at a good pace again with no joint pain or wrist drop.  Bike with the ladies rides and be able to keep up.  Fat tire bike on the snow.

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