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Guest Opinion

In diagnoses, there’s power in knowing its name


What’s In a Name?

Limb-Girdle Muscular Dystrophy or LGMD wasn’t really in my vocabulary until recently. I’ve always had difficulty with stairs, running, getting up from low chairs, and so forth, but it was just a way of life — a part of me that was familiar and always there.

In the grand scheme of things, not being able to run a mile in grade school certainly did not keep me up at night. In fact, I’ve always had this easy-breezy mentality where the harshness of life rolled off my back. Call it nonchalance, but I take pride in not getting stuck in what I can’t do.

I went on living my best life and accomplished much — I went to college, worked in a big city, had the dream job, built relationships with people I cared about, and soaked up all those life lessons, the good ones and the bad.

As I approached 30, I thought, “Well, it’s time to slow down a bit.” You know: the adult thing; focus on the career, meet the love of my life, buy a house, have 2.5 kids and a white picket fence.

When my son was born, I focused completely on him as any mother would, but ignored what my body was beginning to tell me.

Picking up a gallon of milk, bending over, walking with a normal gait; once-easy things were progressively getting harder to do.

Then COVID hit and it was a strange, strange time to be living. The world felt dark and isolated. I longed for that human connection and so I reached out to find a support group online. I intended to find a way to vocalize what I was struggling with physically with other like-minded people who understood what I was going through. I wanted to find a safe place where I could ask the hard questions, and a lot of silly ones, and not feel judged.

It was very cathartic and what I found was that there are people who build you up and make you feel less alone.

I asked those women in my support group the tough questions — the ones with answers that make you cringe and weren’t pleasant to hear.

“How many times do I fall until I break something and have irreversible damage?”

“How can I be the best mother I can be when I don’t have the stamina to keep up?”

“How do you afford a wheelchair when the insurance company doesn’t recognize it as medically necessary?”

Through the kindness of strangers, I found some new ways to adapt.

I should note that I cannot continue to tell this story without giving praise to a very selfless man.

When I realized that I couldn’t deny the use of a wheelchair any longer and was even more tired trying to navigate the health insurance loops, I asked for a little help from my friends. From the goodness of his heart, a man from several states away gifted me a Permobil motorized wheelchair. It had all the bells and whistles, it got me from Point A to Point B, helped me roll down the street to the bus stop with my son and, best of all, raised me up. (Pun intended: The wheelchair has an elevated seat so I can reach the highest cabinets in the kitchen.)

It was and is a life changer. I’ll be eternally grateful to this stranger who has since become a part of my extended circle of support. Through this community, I had the motivation I needed to seek a diagnosis.

Like many with a neuromuscular disease, you do all the necessary diagnostic tests first, then it’s often a waiting game. Over the years I had plenty of genetic tests and was always told by the brightest of physicians that I had a myopathy but didn’t know which. There were symptoms, but no genetic markers to indicate as such.

Until I did my research and found a physician on the other side of the United States who ordered one more genetic test. Little did I know, one more try for an answer to that thing I’ve long lived with would give me a definitive result.

Diagnosis Day 2023: Limb-Girdle Muscular Dystrophy 1D/D1: Pathogenic. I had a name and what a relief it was.

And now, no way am I going to allow this little nuisance to get in my way.

If there are any lessons to be learned about a long journey such as mine to find a name, it would be this: The muscle disease that has always been with you, the one that has produced such ebbs and flows, does not define you. It just propels you further.

Victoria Nedza lives in Chalfont.

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