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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?

About rachelmankowitz

I am a fiction writer, a writing coach, and an obsessive chronicler of my dogs' lives.

76 responses »

  1. Wishing you lots and lots of luck, Rachel.

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  2. In medical school in the 1990s, we didn’t learn much about mitochondrial disorders. There is so much more known about them now.
    I hope you find a knowledgeable practitioner who can help you.

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  3. Jennifer Barraclough

    I hope you’ll finally get a proper diagnosis, Rachel. Even if there’s no specific treatment it can be helpful to know what’s wrong.

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  4. Hope and pray for some improvement following your evaluation and treatment. Thanks for your clear explanation.

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  5. good luck and sorry for all of the run around. Sending prayers of hope Rachel.💖💖

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  6. Best of luck, Rachel!
    jack

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  7. Hard to treat that about which not much is known.

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  8. Wishing the best outcome for you Rachel. Allan

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  9. I hope you get some answers. I didn’t know they even used MSG anymore. My mom had a reaction to it at a Chinese restaurant probably 40 years ago.

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  10. I’m praying for you and sending you a heartfelt ((HUG)). ❤

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  11. Best wishes for strength and courage as you face this confusing situation. I really admire how you dove in and learned about everything. I’m not sure I would have your courage or tenacity.

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  12. It sounds like you might actually get to know what this though!

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  13. I so hope you are able to find a name! I know what that means to someone in your position. Maybe by Fall you will finally have some answers.

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  14. I wish you luck working through this, Rachel. It sounds like you’ve made a lot of progress in figuring out what’s going on. It sure can be complicated. Good thing you have your dogs to help talk you through it.

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  15. Hope you get useful information from all the tests! Good luck.

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  16. It is good that they are being so thorough – the detail is mind boggling

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  17. Health issues can be so complex and in the current climate, diagnosis or getting to see the correct consultant is time consuming and a permanent worry. It has taken four years of misdiagnosis to finally find a GP who has referred Hubby to the right people to get him sorted. He still isn’t, but we are further down the road than we were. Hope they can do the same for you Rachel.

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  18. Wow, this all sounds so complicated. I hope the doctors get everything sorted out soon. Best wishes.

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  19. I really hate to say this is so interesting, because it’s your health we’re talking about, but…this is so interesting! I really hope for you that you don’t have to have another spinal tap.

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  20. My sincere wish is that you could live your life free of worry, and any further ‘testing’. Life is too short to spend it being consumed with worries and fears. You will soon be 70, and wonder where it all went. I know that to be true, because I was 70 this year, but I know where my life went.
    Take care, dear Rachel.
    Best wishes, Pete.

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  21. I’m glad you are making progress on your quest for the source/cause of your symptoms. Though difficult and exhausting, it is the only way you will find a sense of peace and power in your life. Sending you lots of “good vibrations”!

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  22. Through my many years, Rachel, I’ve come to believe that we all possess some mutation with respect to our “want-to-practice-perfect-health” desires. The best we can do is undergo testing and treatment– and, if worried, make sure to get second opinions by other doctors. Good luck with your own situation, lady.
    Art

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  23. I think the best thing about this process for you is being taken seriously. It is extremely difficult to navigate PTSD and health issues since it is always a worry that you “are making too big a deal out of this.” And of course many doctors are pretty dismissive of “vague” symptoms, however real. Whether or not there is treatment, you can rest assured in the knowledge that you are finally really being heard.

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  24. Rachel, good luck with all this. My husband had a non-rare thing, “just” celiac disease, but it took 45 doctors, 99 symptoms, and eight years to get a diagnosis. My son has a very rare genetic disorder, and although we took him to neurologists at university medical centers all over the country over the years he didn’t get diagnosed until he was 26. If you have something rare, it is so difficult to get that definitive diagnosis. I’m sorry you are going through this.

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  25. Definitely wishing you luck as you continue with (hopefully) good MDs and testing. (have some autoimmune issues myself and have been on Remicade since 2011–yikes)

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  26. Hey, sorry to hear about all the tests… btw some chinese restaurants will respond favourably if asked for food “without MSG” so that may be possible in your favourite restaurant. Fingers crossed for you.

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  27. I’m especially appreciating the photo of Miss Butterfly with the sock just below the thought of being sent to the hospital again . In response to the possibility of a spinal tap redo and of you leaving her at home, what if her holding your sock ransom (and on wood) could translate to “That would sock”, “That would suck”, “This socks”, or “This sucks”. On a more serious note, I’m wishing good luck for you Rachel.

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  28. I really hope that you get some conclusive answers this time!

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  29. My sincerest wish for you is that you find the answer to this mystery and solutions to improve the quality of your health and well being.

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  30. So many people must have suffered over the years knowing they weren’t well, but told there was nothing wrong. I suppose people with money could afford to be invalids and doctors would tell them they had a weak heart or stomach and should go to a spa and take the waters.

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  31. Good luck with all of that! My friend‘s son has mitochondria and it took so long for them to figure it out and he had so many various diagnosis before they did. Wishing you the best outcomes!

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  32. Best wishes for sorted out the health issues.

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  33. Animo y mucha suerte, independientemente del resultado final, disfrute usted de cada minuto con lo que más le guste. La vida es un soplo, a todos nos llegará el final, que las pruebas médicas no nos entretengan, disfrutemos con todo y con todos , todo lo que podamos. Todo llega y todo pasa rapidamente, lo bueno y lo malo. Disfrutemos mientras podamos de lo bonito que es un paisaje, de lo bonito que es estar con alguien a quien amamos y nos ama….

    Reply
  34. Sounds like you are finally going to get some answers! May God heal you.

    Reply

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