LGMD “SPOTLIGHT INTERVIEW” 

Name: Kaya                           Age:  18 yrs. old

Country: Holland

LGMD Sub-Type:  LGMD 2D/ R3 Alpha Sarcoglycan-related

At what age were you diagnosed: 

I believe that must have been around my third birthday though I cannot say that I remember much of that. We where really early on the diagnosis.

What were your first symptoms:

I was born pretty much simultaneously with my sister and my first symptom manifested when I started to crawl, my sister who is healthy crawled like a normal infant would whereas I crawled in a weird manner with one leg in front of the other basically dragging myself along.  An acupuncturist and great friend of the family spotted this and warned my mother hence my early diagnosis.  Another symptom that developed a bit later was me falling. This manifested when I first started going to school and was trying to keep up with my peers. Upon receiving gene therapy through a clinical trial the latter symptom has very greatly diminished to a point where I have not fallen in about two years which I suppose is a score most healthy people cannot replicate.

Do you have other family members who have LGMD:

No, I am the only one in my family.

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

For me living with LGMD means keeping up the fight. I exercise every day. Just the basic stuff like two times five minutes of crosstraining, two times one minute of planking et cetera. And some days it is hard to keep a positive mind and find the motivation to work as hard as I have been doing. Everyone has a different way of fighting LGMD, my way is a quite literal and direct approach and it has served me well thus far. But an attitude like this comes at quite the price as it is one not shared with people my age henceforth leaving me struggling to find any connection at all with them and putting me in social isolation even before any Coronavirus lockdown.

What is your greatest accomplishment:

I am still here and getting stronger than I ever was. As stated before I have received gene therapy in a clinical trial. After this treatment I went to work to get my body where I want it to be. I have worked so hard before the trial to minimize any damage which is pretty tough for a young kid to always be responsible and take many supplements that are not always known for being palatable, then after receiving the trial I went sporting and felt myself getting stronger and in an overall better condition. Saying that I beat LGMD is premature and thus foolish but I would be more than happy to say that I am currently giving it the one finger salute.

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

As a young kid LGMD has forced me to be very responsible as with every wrong move I could fall and break something. It has also forced me to give it everything I have and do the best I possibly can and to fight the unfightable. It has also made me appreciate life and all the good times I experienced. It influenced my values and my priorities. All these influences can be seen manifested throughout everything that defines me, from the music I listen to and make and my work ethic at school all the way up to the kind of people I like to be around.

What do you want the world to know about LGMD:

I want the world to know that people are working tirelessly to help us. I have seen the enormous labs and facilities that are put to use to make that definitive cure and I have experienced first-hand that they are working on some good stuff. I would like to ease your despair and say that the field is being moved forward at an incredible pace. And one day I guarantee you there will be a phone call for you saying ‘Howdy there, I believe I may have something for you’.

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

A big congratulations all ex-LGMD-ers and amazing researchers would be in order I think.

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