Name: Kelsey

Age:  41

Country:  United States

LGMD Sub-Type:  LGMD2A/R1 Calpain 3-related

At what age were you diagnosed?

18 years old, after I graduated from high school. I had shown symptoms for 5-7 years before being officially diagnosed by a neurologist.

What were your first symptoms?

I can vividly remember playing softball in middle school, and the player that was two bases behind caught up to me running to home plate. I was physically slow and struggling more and more standing up from the ground. My peers sometimes noticed and asked me what was wrong, but I never knew what to say. I tried to hide my symptoms for as long as I could to avoid being questioned or appearing different.

Do you have other family members who have LGMD?

Yes, my older brother also has LGMD 2a, and was the first to show symptoms. We, though, are the only two people in our family history to have this rare disease. He was initially mis-diagnosed with Becker MD in 1992, a form of MD that only impacts males. This delayed my diagnosis because it seemed impossible to both my parents and doctors that I could also have the condition.

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

For me, the greatest challenge is the loss of independence. It has become so difficult to do simple things, most especially when I am away from my home (like use the restroom, get in and out of bed, or shower). The freedom to travel easily by plane, car, or boat are all privileges that I am denied living with the consequences LGMD. These challenges limit me personally, professionally and financially.

What is your greatest accomplishment?

Completing a dissertation on the experiences of young adults living with (namely) LGMD was one of the most difficult and rewarding experiences of my life. Learning the deeply personal and painful stories of others who went through similar losses to mine, and writing about the emotional aspects of the disease, helped me to both earn a Ph.D. in Counseling and Human Development, and understand more about the struggles others shared that were similar to my own. I love working in mental health counseling, specializing in treating people with chronic illness. The relationship with my husband of 11 years and parenting my 4 year old son also stand out as achievements for which I am so grateful.

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

Living with LGMD has taught me a lot about what it means to be mortal. As inevitable as the sun will set, sooner or later independence becomes impossible for everyone. Serious illness or disability will strike us all. Our cultural reverence for beauty, youth, and ability does not consider this reality. The loss of “normal” after being diagnosed with LGMD has brought much personal pain and humiliation, which motivated me to study resilience and post traumatic growth, which I now use to counsel others. Pain invites us to transcend difficult emotions like sadness and sorrow and connect to powerful feelings like compassion and kindness. In the words of Dr. Mark Savickas, learning to “actively master what I passively suffered” has given my life meaning and purpose.

What do you want the world to know about LGMD?

I would want others to be aware of the modern day exclusion from society people with disabilities experience. There are still so many restaurants, stores, and offices that are not wheelchair friendly. To travel in an airplane, I would have to give up my power wheelchair – which separates me from my ability to move independently. Renting a car that can accommodate my power chair is difficult and expensive. I can’t get into the homes of my family members and friends to celebrate holidays and birthdays. The cost to living with a disability is extraordinary, financially, socially, and emotionally. My hope is to raise awareness for others to appreciate the gifts they have, and help modify the injustice and discrimination that exists.

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

If I could be “cured”, the first thing I would do is relish in the ability to move my body on command. I would sit on the floor and play with my child and lay in his bed with him for the first time. I’d love to hug my husband spontaneously and fully, then play on his recreational soccer team. I would climb stairs to see my nieces and nephews bedrooms for the first time and go visit my sister who lives 1,300 miles away for a long weekend. These simple things would be a dream come true if I lived without LGMD.