Name: Amanda

Age: 26

Country: USA

LGMD Sub-Type: LGMD2B/R2 Dysferlin-related

At what age were you diagnosed?

I was diagnosed at the age 14.

What were your first symptoms?

My first symptoms were not until I was about 20 or so. This is when I started to first truly notice symptoms of muscle weakness/atrophy. I noticed it mostly in situations with using my lower half of my body like stairs or squats. To my surprise, I also had significant pain in my knees. I now know that there is muscle atrophy in those too.

Do you have other family members who have LGMD?

I do not.

What do you find to be the greatest challenges in living with LGMD?

My greatest challenges have changed a lot over the last few years. I’m lucky enough to still be ambulatory, though I do have trouble with my mobility.

At the moment, I would say my greatest challenge physically is the unpredictability of my flare ups and pain. The rapid onset fatigue, stiffness, and pain, can make it very hard to work and live life to the fullest at times.

My greatest challenges emotionally would be the mystery of the future and whether I will get to see a cure in my lifetime. This crosses my mind on a minute-by-minute basis. I also have really struggled over the years to educate my medical teams about LGMD. Aside from my MD specialists, other doctors/nurses/medical staff typically have no idea what this disease is, which is incredibly exhausting from a patient perspective.

What is your greatest accomplishment?

When I was diagnosed with LGMD, I had to drop all sports I was in, as the doctors were worried about my CK levels and didn’t know what further harm I was causing. LGMD 2B was still incredibly new back in 2012. I was very athletic, so dropping sports crushed me. But then I decided to put all of that energy into creating art and growing my love for it. I ended up finding all kinds of art forms I was interested in, and then ended up actually pursuing one as a career.

How has LGMD influenced you into becoming the person you are today?

Aside from how LGMD has influenced my career, I would say it’s changed my mindset a lot as well. As unfair as it is, and it is SO unfair, individuals with LGMD have no choice but to adjust their mindsets if they want to find happiness amidst this disease. I’m always working on my mental health in this area, and have found that therapy and a supportive community have been major game-changers.

So, recently, I decided to launch a blog: where I share moments from my chronic journey to make others’ chronic journeys a little easier. I’m also starting a “Featured” section as well, so others can share their chronic stories and advice. Please feel free to go check it out!

What do you want the world to know about LGMD?

I want the world to know everything about LGMD! But mostly that time is of the essence. This is a progressive disease without a cure. All cases of LGMD look different, and I would consider myself an incredibly lucky case. People are suffering and the only way to find a cure is to raise awareness and educate people in our communities — our doctors, our coworkers, our friends, and our families.

I’d also want the world to know that while LGMD looks different on everyone, it also looks different for everyone every day. I cannot guarantee how my body will feel tomorrow, and I cannot foresee how this will progress over time. Just because I did something yesterday does not mean I can do it today. Unfortunately, my body is just more unpredictable than the average person.

If your LGMD could be cured” tomorrow, what would be the first thing that you would want to do?

I can’t decide — because there is so much I’d want to do! I’d definitely plan a ski trip. I’d plan a hiking trip. I’d go for a run with my dog. I’d road trip 11 hours to go see my best friend in Tennessee. I’d go to Disneyland and walk the whole park. I’d book a flight to NY and walk the entire city all day long. I’d sign up for a workout class with my friends. I’d go ice skating and learn to roller blade. I’d do all the things I took for granted at one point, and so much more.