Originally Posted by Minnie
This is, for all intents and purposes, a good thing that I'm happy about, but we finally have most of the results from my daughter's genetic testing. She first saw the geneticist in August 2019 and got a diagnosis of Ehlers Danlos Syndrome (EDS), with comorbidities of Postural Orthostatic Tachycardia Syndrome (POTS) with a side of Inappropriate Sinus Tachycardia (IST), and Mast Cell Activation Syndrome (MCAS) - these are all known comorbidities to EDS. An entirely separate diagnosis, which may or may not be connected to the EDS, is Trigeminal Neuralgia. She is fortunate that the worst of the TN is controlled by medication.
Today, after months more investigation and testing, she has been given a diagnosis of a metabolic disorder. She has some weird crap going on there too, so more testing is happening, because she has something known as "synergistic heterozygosity" - it's all very much MUCH, which I don't fully understand, but functionally, she has something called Medium Chain Acyl-Coenzyme A Dehydrogenase Deficiency (MCADD). It's basically one of a bunch of fatty acid oxidization disorders. She has some weird stuff along the chain, which is throwing them for a bit of a loop, hence more testing (he said she's rare all around lol). She is one of the rarer cases not diagnosed until adulthood, mainly because AB doesn't do a lot of newborn screening, or didn't used to, when she was born. In hindsight, it explains a LOT of things we just contributed to as the odd way her body responds to things.
It also means that I now will undergo some genetic testing, and the geneticist has sent a note to our GP to refer one of my sons to him for testing as well, based on our initial intake interview with him and further conversations as this testing has gone on for my daughter. There is some question as to whether or not he also has EDS and/or possibly Marfan Syndrome, and also this same genetic mutation that would mean he also has MCADD.
It's been 10 very long years to get to where we are today but I am very happy that we finally have some answers. I had long wondered if there was something besides the EDS going on, which is a diagnosis I thought she'd end up getting after copious amounts of research, reading medical journals, speaking with doctor friends, etc. I also believed, however, that something else was off but could never get anyone to listen to me, that could do anything about it, not even with her ortho backing me up and insisting something was up. Now we know.
She will, for the time being, be placed on what they call the Mito Cocktail, which is essentially just a massive bunch of supplements - she has been on some of them for several months, but she will now get the entire list and will have to add in a few more. They are doing a bit more testing and then she may be referred to metabolics. It may end up that her geneticist oversees things, because we all know what trying to get into specialists is like right now - essentially, she'd have the same course of treatment either way, so who "gets" her isn't a big deal - she can be supported by either metabolics or her geneticist. She will have to have some extra monitoring for any surgical procedures because of how the MCADD causes the body to react to metabolic stressors like surgery and illness. We will also likely have to get in touch with a dietician to get a bit of assistance in sorting out her diet (she will have to eat many smaller meals through the day and consume more complex carbohydrates, especially at bedtime, and balance this in such a way she doesn't suddenly balloon in weight). It has been suggested she could get a glucometer because hypoglycemia is a hallmark of MCADD, but I imagine to have it covered by her insurance, she'd have to have a prescription for it? None of the mito cocktail stuff is covered, unfortunately.
In the end, it's good to finally have answers and an official diagnosis, so that when I tell medical staff all of this, I don't get blown off, lol. Typically, if I tell them she metabolizes things fast, gets hypoglycemic, etc, they blow me off, but now we have proof. She had a procedure done in Nov wherein I told them this MCADD testing was in the works and that she needed to be tested prior to the procedure for hypoglycemia based on the symptoms I was seeing and because she had to fast, after a fashion, consuming only the colon prep diet and that ick for the procedure (basically not ideal for people with MCADD & other similar fatty acid oxidization disorders), they kind of sighed heavily but tested and ended up having to give her some glucose. They also found out during the procedure that she does indeed metabolize very quickly, as she woke up before they were finished (endoscopy & colonoscopy). Her geneticist will provide her with a letter we have to make copies of, that outlines the specific support needed in an emergency or medical scenario, so that it can be carried on her person or that we can present on her behalf if such situations arise (like surgery).
In the meantime, she has all the appropriate specialists in place, thankfully, so she should be monitored quite well, one hopes. Even the potential diagnosis of MCADD prompted a couple of further tests from neuro and cardio, but so far, so good on those fronts. She will have those other tests done routinely now, though.
Thank hank for genetics specialists. It's been 10 years to get here, but I'm happy we are finally most of the way there and have answers now, so that her care and treatment will always be appropriate from here on out. Sorry for the TL;DR.
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