I was told at my last neurologist appointment, that I’m not progressing anymore with my treatment. I’m regressing and my neurologist doesn’t know why.
I live with generalized myasthenia gravis (gMG) and have been on treatments for six years. At my last exam with the team of neurologists, I expressed concern about the atrophy I was experiencing, especially in my legs. My calves, quads, and hamstrings had seriously degraded in muscle tone and strength.
With my family history of muscular dystrophy (MD) — grandmother, aunt, uncle, several cousins, and children of the cousins — it was decided I would have a genetic test, along with a couple of MRIs. The likelihood of me being diagnosed with MD was low. However, the idea that something else could be happening to me added to the overall emotional stress that I am already living with.
I understand diagnosing a human ailment is a matter of eliminating the possible causes. That’s what I’m going through now with the genetic test and the MRIs. But it is emotionally daunting waiting for results or just to get an appointment, such as it is for MRIs. Meanwhile, I need to live as if everything is normal, as well as normal as possible with gMG. I’m already stretched to the limit with fatigue and weakness. And now something else is wrong, we don’t know exactly what. The ambiguity drains any energy I may have.
But I have learned over these past six years is hope and knowledge are powerful motivators. That is what keeps me going through all of the ambiguity and emotional distress. It doesn’t diminish the effect and impact on me. It drives me forward.
What I am thankful for is what we take for granted today — genetic tests. It wasn’t all that long ago, about 30 years ago, that getting the results of genetic tests could take six months to a year. The cost was exorbitant and prohibitive. But science and technology have advanced to where I can submit a cheek swab and send it to a lab and get the results in four to six weeks. The idea of that is amazing. Now, by the end of April, I will have my results. The knowledge will allow me to move forward in my life regardless of the outcome.
Read more about MG testing and diagnosis
We live in a scary and amazing time. We can test for some of the most devastating diseases and find out if our world is going to change. There is relief in knowing either way. If the test comes back negative we have eliminated one data point and can focus on the others. These are very important in understanding the patient’s status and help determine the next steps.
Yes, I could be waiting again, but it is a step toward isolating what is really wrong. That makes me hopeful.
