My original diagnosis was incorrect. Here’s why that’s important.

In August 1985, I was diagnosed with Becker muscular dystrophy.

At that time, there was no genetic test for the disease, nor DNA sequencing of the blood. Instead, I underwent a muscle biopsy on my left thigh and calf, the tissue was sent for pathology, and the medical professionals told my parents that while I had concerning symptoms, I was too old to have Duchenne muscular dystrophy. (I was 12, and Duchenne symptoms tend to appear after the first year, with the average age of diagnosis at 4).

So the doctors focused on the Becker type, as the majority of my presenting symptoms were similar to Duchenne’s. These included having trouble rising unassisted from the floor, climbing a flight of eight to 10 stairs without holding the railing, or walking on flat ground without a “waddling gait” in my hips.

Of course, the internet wasn’t in wide use in 1985, and my parents had no knowledge of muscular dystrophy (MD) of any type, beyond a pedestrian understanding of the Jerry Lewis MD telethon, presented each Labor Day weekend for “Jerry’s Kids.”

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Obviously, my parents found this diagnosis utterly devastating, and they shielded me from the doctors’ prediction that I likely wouldn’t live to see 30. I went on to have physical therapy, and, raised on my parents’ positive attitude along with help and support from my younger sister, I simply kept living.

Let me pause for a moment here to tell you that this writing is not about perseverance, however; nor is it about overcoming challenges. Instead, I’d like to share with you the importance of making every effort to ensure that your diagnosis is 100% correct. Mine was not, and it took almost 25 years to correct it.

Shifting gears

As I grew older, doctors praised me for “doing so well,” such that I began to think, especially in my 20s, that I was some kind of rock star at living with chronic illness. At the very least, I thought, I was lucky and defying the medical experts. That too was wrong, as I later found out.

I started hunting for clinical trials regarding the treatment of Becker in the late 1990s and continued throughout the 2000s. I applied for several, but I was always disqualified on the basis of varied things, including poor grip strength or blood work that didn’t quite look as expected.

It’s important to mention here that clinical trials are exactly that: not a treatment or a cure, but a test — at these phases for safety and dose tolerance — to help advance science. Each time I spoke carefully with my medical team about a trial’s risk vs. reward, but I was still frustrated that I couldn’t participate in a single one. I had no idea that all that time, my genetic defect was present where no one was looking.

By 2010, I’d done two separate DNA sequencing tests through blood work of my DMD gene, which produces the protein dystrophin. Duchenne and Becker are caused by mutations in this gene. Yet both times my results came back with “no detectable mutation in the dystrophin gene.”

Thankfully, a member of my care team suggested that the professionals might be looking in the wrong place. Not long after, a blood array was ordered to expand the search for genetic defects in other areas of my muscle tissue, and lo and behold, a defect was discovered elsewhere, and it matched a diagnosis of limb-girdle muscular dystrophy (LGMD) type 2E/R4. That took me months to process. I told family and friends that I felt I’d just met another member of my family that I hadn’t known existed.

If I’d never received genetic confirmation of my LGMD diagnosis, I may have participated in a clinical trial and at best skewed some data. At worst, it could’ve hurt my health, as the treatment being studied would’ve been targeting a part of my genetic code that wasn’t and isn’t broken.

It’s important to be sure, through genetic testing, that you know precisely where your genetic mutation lies. Having MD is a general label, but as research and science improves, it’ll be paramount to know if a possible clinical trial or treatment will actually be in your best interest.

Note: Muscular Dystrophy News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or another qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Muscular Dystrophy News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to muscular dystrophy.