RSS Feed

Tag Archives: genetics

Genetic Testing

            About a year ago I had to go to a Gastroenterologist, both because I was experiencing belly pain and nausea (still am) and because my Cardiologist was impatient for me to schedule my first colonoscopy.   The gastro took my concerns seriously and when he saw a note in my chart from a Rheumatologist saying that I have a clinical diagnosis of Ehler’s Danlos (a connective tissue disorder), he referred me to a geneticist to see what type of Ehler’s Danlos I have, because certain types can make a colonoscopy dangerous, and he didn’t want to take any unnecessary risks.

It took a while to get an appointment with the geneticist, and then it took a while for the first set of results to come back, which were inconclusive, and then it took a lot longer for a more comprehensive set of tests to be performed.

“That sounds exhausting.”

            I finally heard from the geneticist in March, and she said that there were a few genetic mutations (see, I AM a mutant!). Most of my genetic test results came back as “variant of uncertain significance,” because they’ve recognized mutations on certain genes (related to Connective Tissue disorders and mitochondrial disorders, in my case) but are not yet sure what those mutations signify. There was also a “likely pathogenic variant” on the LMNA gene, something I’d never heard of and had to google extensively. The geneticist referred me to a neuromuscular specialist to look into a possible LMNA-related disorder, and sent me for more tests see if I might have a mitochondrial disorder, based on the variants of uncertain significance, and it turned out that there was something there, so she also referred me to a hospital that specializes in mitochondrial disorders.

            I am not used to doctors taking me seriously, or even taking my test results seriously, so I haven’t quite taken in the idea that there might be a name for what I have, and doctors who are willing to try and treat it. I’m still worried that this will be another dead end and I’ll be back on the doctor roller coaster by the fall, with no validation and no treatments to show for it.

            The LMNA thing is still mostly a mystery to me (my brother, the doctor, had never heard of it), but the research I’ve read says that pathogenic variants on the LMNA gene can cause diseases like: muscular dystrophies, dilated cardiomyopathy, premature aging disorders, and a bunch of other diseases I’ve never heard of. There could be a connection between the LMNA variant I have and the scoliosis that runs in my family (on my mother’s side). There could also be a connection between some of my muscle weakness and walking problems and heart murmur and all of this, but the research I was able to find was mostly about much more serious disorders related to the LMNA gene variants and didn’t sound, overall, like what I’ve been experiencing all these years.

            My research on mitochondrial disorders came a lot closer to fitting my situation, though, with a list of possible symptoms like: exercise intolerance, muscle weakness, shortness of breath, and severe exhaustion. Type 2 Diabetes can also be a symptom of a mitochondrial disorder, and that runs on my father’s side of the family, and has always been a concern for me.

            Mitochondrial disorders cause cells to have trouble metabolizing proteins, so the body doesn’t get adequate oxygen or energy, and instead produces lactic acid and other organic acids that can be toxic to the body. If I do have this, I have a mild version (compared to children who show signs in infancy), which would explain why it’s been hard to diagnose.

            The hospital that specializes in mitochondrial disorders has already requested a lot of my previous medical records, including MRI’s and spinal tap results. I’m not sure what else they will need in order to determine a diagnosis, but the articles I’ve read have mentioned muscle biopsies as likely next steps, and they may also want me to redo scans, or even, god forbid, redo the spinal tap which sent me to the hospital last time around.

Miss Butterfly held my sock ransom until I came home

It makes sense that mitochondrial disorders are hard to diagnose, because symptoms can range from mild to severe, involve one or more organs, and can occur at any age. Symptoms can include: poor growth; muscle weakness or pain, low muscle tone, and exercise intolerance; vision or hearing problems; learning disabilities or developmental disabilities; autism spectrum disorder; heart, liver or kidney disease; gastrointestinal disorders, swallowing difficulties, diarrhea or constipation, vomiting, cramping or reflux; diabetes; increased risk of infection; neurological problems (seizures, migraines, strokes); movement disorders; thyroid problems; respiratory problems; lactic acidosis; and dementia.

            There’s also no known cure for these disorders, just experimental treatments to help reduce symptoms, including vitamins and supplements like: Coenzyme Q10, B complex vitamins, Alphalipoic acid, L-carnitine, Creatine, L-arginine; and exercise, rest and physical therapy. They also say to avoid alcohol (check), cigarettes (check), extreme temperatures (I try), lack of sleep (hmm), Stress (hmm) and MSG (which could explain why I have developed a bad reaction to the Chinese food I used to love.)

“I’ll eat your Chinese food for you.”

            So it looks like I will be spending the summer being examined again, with who knows what potential results. The geneticist also made sure to give me an appointment for next year, in case none of these diagnoses pan out. She said that the genetics field is discovering new things every day, with more sensitive tests coming soon, and more research on how gene mutations influence different diseases. So I will probably see her once a year until they are able to figure out what’s going on with me and how to treat it.

            Wish me luck!

“Good luck, Mommy!”

If you haven’t had a chance yet, please check out my Young Adult novel, Yeshiva Girl, on Amazon. And if you feel called to write a review of the book, on Amazon, or anywhere else, I’d be honored.

            Yeshiva Girl is about a Jewish teenager on Long Island, named Isabel, though her father calls her Jezebel. Her father has been accused of inappropriate sexual behavior with one of his students, which he denies, but Izzy implicitly believes it’s true. As a result of his problems, her father sends her to a co-ed Orthodox yeshiva for tenth grade, out of the blue, and Izzy and her mother can’t figure out how to prevent it. At Yeshiva, though, Izzy finds that religious people are much more complicated than she had expected. Some, like her father, may use religion as a place to hide, but others search for and find comfort, and community, and even enlightenment. The question is, what will Izzy find?