NAME: José Antonio
LGMD Sub-Type: LGMD 2B/Dysferlinopathy
At what age were you diagnosed: at age 46
WHAT WERE YOUR FIRST SYMPTOMS:
I first noticed muscle weakness at age 30. I was found to have a heart problem in my aorta, and the cardiologist thought my muscle weakness was due to that. I had an EMG and the results came back fine, but I kept falling, bumping into things, not having strength in my legs to climb stairs, or in my arms to lift heavy objects. I think the most alarming symptom was when I discovered that I couldn’t jump, then I knew something was wrong.
DO YOU HAVE OTHER FAMILY MEMBERS WHO HAVE LGMD: No
WHAT DO YOU FIND TO BE THE GREATEST CHALLENGES IN LIVING WITH LGMD:
Everything! Once people help me to get out of bed I have to get into a special chair to use the bathroom, then people have to lift me so I can get into a wheelchair. I have physiotherapy from Monday to Friday. The physiotherapist lifts me using a belt and I walk with him about 10 meters several times. He has me flex my arms with 1 kg weights, then they lift me into my vehicle and they take me to my workplace where I stay in my vehicle. The saddest part is that I watch my children grow up, and I can´t go with them to enjoy simple things: beach, movies, parks, etc. My wife is the one who does this; she is very devoted to me and helps me a lot.
WHAT IS YOUR GREATEST ACCOMPLISHMENT:
Being able to stay in contact with my customers and to keep working in my own way.
HOW HAS LGMD INFLUENCED YOU INTO BECOMING THE PERSON YOU ARE TODAY:
I’ve learned to appreciate people helping me, to have patience, to keep being hopeful and avoid feeling depressed, to be thankful for everything, to understand people who aren’t in the same situation as me and who are in a difficult situation, to value what I have and to be a saver, to give more love to my family each day as if it were the last.
WHAT DO YOU WANT THE WORLD TO KNOW ABOUT LGMD:
How difficult it is to accomplish small things that are insignificant for other people, for them to know about these rare diseases, and for there to be more interest in studying why they occur and how they can be avoided. Also early diagnosis so patients can take vitamins to avoid health problems, because when we become less mobile our bodies become weaker and our immune system weakens. Finally, and most importantly, to find a treatment or cure for this disease!
IF YOUR LGMD COULD BE “CURED” TOMORROW, WHAT WOULD BE THE FIRST THING THAT YOU WOULD WANT TO DO:
I would walk on the beach, run, climb stairs, travel places with my children without them having to worry about me. Take my wife out to a beautiful place to eat and thank her for all the love she has for me by being able to help me and care for me. I would hug my children to thank them for all the support they give me every day.