LGMD SPOTLIGHT INTERVIEW
LGMD Sub-Type: LGMD2I
At what age were you diagnosed:
I was initially diagnosed with a “non- specific muscle myopathy when I was a young child (sometime in grade school). Later in life, when I was 26, I was given a “working diagnosis” of LGMD. Finally, at the age of 36, I was formally / clinically diagnosed with LGMD 2I via genetic testing.
What were your first symptoms:
I’m not really sure what my first symptoms were because though I had this disease from birth my parents never talked to me about it. They felt that because my symptoms didn’t medically impact my life then there was no need to dwell on them. Looking back on it- if I had to guess- my earliest symptoms (that I can recall) were toe- walking, and achy calves. I also recall not being able to easily participate in some gym activities like cross- country running and gymnastics.
Do you have other family members who have LGMD:
I have three brothers. It is interesting, the two brothers closest in age to me are affected with LGMD but my youngest brother (who is seven years younger) is not affected at all and, in fact, is extremely athletic.
What do you find to be the greatest challenges in living with LGMD:
For me, the first greatest challenge is the ever changing needs of this disease- sometimes it’s hard to keep up! For example, you get used to doing a certain task one way and suddenly, one day, you can no longer do it that way (or you might discover you can no longer do that task at all). Also, you buy a piece of equipment to assist you and it works for a while but then you reach a place where it is no longer helpful and have to either buy yet another piece of equipment or think of something else.
The second greatest challenge living with LGMD, for me, is not knowing how this disease will affect your future. Every one progresses differently, to varying degrees and rates so it is difficult to anticipate what your future needs will be or to plan any kind of future because physically you just don’t know what kind of shape you will be in.
What is your greatest accomplishment:
I work very hard to live a full life so it’s hard for me to name one accomplishment. Sometimes living with disease just getting out of bed feels like my greatest accomplishment J In all seriousness though, I am a mother to two children (one biological and one adopted) so watching them grow gives me tremendous joy and gives me an immense sense of accomplishment. I was also a parish priest for almost ten years and so I had the great honor of journeying with people through their most difficult times. Knowing that I may have helped them navigate that tough patch (even if it was to a small degree) gives me a sense of pride.
How has LGMD influenced you into becoming the person you are today:
LGMD has influenced my life in many ways. It has taught me to be adaptive to my environment. I think, when living with this disease, you naturally learn to think outside the box.
It has also taught me not to dwell because when you dwell you feel ‘stuck’ which isn’t helpful or healthy. LGMD has also given me the gift to appreciate all the little things in life. Most importantly, LGMD has given me the ability to not take myself so seriously. My youngest daughter tells me regularly that I am” goofy” and I’m good with that- life is too short and too uncertain not to give pause and have a good laugh. One of my mottos in life is: “If plan ‘A’ doesn’t work, there are twenty five more letters in the alphabet!” J
What do you want the world to know about LGMD:
This disease affects everyone differently and even with the same person it affects them differently depending on the day and surrounding environment. This means that sometimes there may be a lot of anxiety for the person with M.D. Sometimes a seemingly simple and mundane task to an able- bodied person can seem overwhelming to a person with M.D. because of the process and/ or physical barriers involved. All I can say to the world, friends, family and caregivers is that it’s important to love and support those with M.D. not just physically but emotionally and psychologically too– even when you may not completely understand what it is they are feeling and why.
If your LGMD could be “cured” tomorrow, what would be the first thing that you would want to do:
If I woke up today and had no symptoms I would, without a doubt, head directly to the beach!
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