LGMD "INTERVISTA SPOTLIGHT"

Nome:    Jade

Età:  20 years old

Paese: Stati Uniti

Sottotipo LGMD:  LGMD 2A/R1 calpain 3-related

A che età è stata fatta la diagnosi?

I was officially diagnosed in March 2021, so this is all still new to me.

Quali sono stati i primi SINTOMI?

The first time I noticed symptoms, I thought I was just dehydrated.  I felt weak, my legs like jello, and pain in my hips.  Now that I am aware of my diagnosis, I can look back and see symptoms from as early as the age of 12.  I played softball and couldn’t make my legs run fast no matter how hard I tried.  I also have always had abnormally large calves, but I now know that can happen due to the lack of muscle strength in your quads.

Ha altri familiari affetti da LGMD?

No, I am the only person in my family with LGMD2A/R1.

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

Stairs hold me back from a lot.  I can still tackle stairs, but it takes so much effort and energy.  It is not worth it.  I’m also having to learn to adjust my daily life such as, having a chair to sit and rest when cooking, sitting on the floor to hold children instead of picking them up, and limiting the number of things I do in a day.  The biggest hurdle that I’ve experienced is the mental hump regarding my power chair.  I know that I need to use it but there is a mental barrier that hasn’t accepted my diagnosis yet.

Qual è il suo più grande risultato?

My relationships and still having a positive outlook on life.  I completed high school, but I went through the trouble of diagnosis after, so haven’t made it to college yet but that is a goal of mine.

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

It’s given me the ability to be more self-aware and to self-educate.  I’m more in touch with my body now, I can tell if I’m in rhabdomyolysis, if I am getting work down, or if I just need to take a rest.  Due to the lack of research for LGMD, it is a lot of self-education and advocacy.  I live in a semi-rural community, so no doctor had any clue on what to do for me or what I had.  It’s now to a point where I can call my PCP, tell them what is going on, and they will treat me accordingly.

Cosa volete che il mondo sappia della LGMD??

LGMD doesn’t look the same in everyone.  Not everyone will be ambulatory and not everyone will be in a wheelchair.  Just the same as not everyone got an early diagnosis, and some people never get one) though it is easier now).  Not everyone will take the diagnosis well and move forward confidently, and not everyone will spiral out due to the diagnosis.  Don’t ever assume you know what someone is going through physically and mentally.

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

The first things I would like to do is go on an adventurous vacation/road trip.  It is not practical for me now but I always want to go to the Grand Canyon, Yosemite, the tallest point of the Appalachian Mountains, and the Hawaii volcanoes.