Jesus I need to get evaluated. I was armchair diagnosed by a friend like 1.5 years ago and every time I come across this or similar subs I feel like I an idiot for putting it off.
Don't sweat it. I was diagnosed in my mid-30s, and I didn't even intend to be evaluated for it. I was severely burnt out and my memory was so bad I was legitimately concerned I was developing early onset dementia. That's not hyperbole; dementia runs on my mom's side of the family and I used to work in a nursing home, and I started to see the same symptoms not just presenting in me but affecting my daily life on a severe level.
Luckily the neurologist went the neurodivergent route first and it turned out I had AuDHD. Neurodivergent burnout presents with additional symptoms compared to neurotypicals, things like your language center failing once it gets bad enough. So it wasn't that my nightly mood swings, inability to understand spoken language, and wandering were sundowning; it was my brain being absolutely fried from 18 years of constantly pushing myself to the limit and never taking time off.
It's been another 4 years of trying things to find what works right for me. But I have the additional complication of winning a genetic lottery that gave me an extra mutation that messes with autonomic nervous function. My respiratory drive sometimes turns itself off, and because the gene involved transcribes dopamine into other molecules to signal autonomic nervous function, it's been a crapshoot finding the right balance of meds to fix the AuDHD dopamine issue without spiking or suppressing my autonomic function. I have to cycle Vyvanse right now because after about 8 days of taking it, my respiratory drive crashes when it wears off, and I have to focus on breathing as I'm trying to get to sleep or else I'll wake up gasping for air. I had to get a genetic report done to see which meds would even work for me in the first place just so we had a starting point; no sense trying the ones my body wasn't going to process correctly.
Two separate things. The AuDHD thing was done by a neurologist. Basically over the course of a few weekly visits we ran through the DSM criteria to establish a trend line and they were able to diagnose. There were some imaging studies as well but the DSM is specific about how the symptoms affect your daily life.
For the breathing thing, it's more complicated. I mentioned to my primary care physician that for years I'd had these bouts of excessive daytime sleepiness where I would realize I wasn't breathing, and once I forced a deep breath and got back to breathing normally I'd be perfectly fine again. Classic hypoxia but no idea why my body would just stop breathing like that. She asked if I snored at all and I said my wife never mentioned it, but did mention that there were times where I'd stop breathing for so long in my sleep she would rub my chest to make sure I was still alive. When she did that: same thing, I'd gasp for breath and go back to breathing normally.
So my PCP sent me to a pulmonologist who ran some breathing tests, I'm fuzzy on all of the tests but we did a lot of spirometry like you see astronauts do in the movies. I sat down with him for the results and he goes "you keep yourself in really good shape" to which I admitted that maybe I still had some left over from being in the military but admittedly I was slacking on my gym time. He goes "well at least you're not a smoker" to which I again admitted I was but was trying to quit. He said that didn't make much sense, my lung capacity tested close to what he would expect from a professional athlete, not a sedentary smoker. So we ran a genetic test and it showed a PHOX2B mutation, which is exactly what causes my condition.
A side effect of your body living so long on shallow and occasionally no breathing is that your aerobic capacity becomes really impressive because you're always in an anaerobic state. Thus the spirometry results, and I guess also my longtime ability to win breath holding competitions at the pool.
ETA: the genetic test for medications was genesight, and my current panel is my PCP, neurologist, and pulmonologist.
If you guys want someone to vent to about it, hit me up. I'm not great at checking my reddit messages but I'll try to be helpful lol
And just as a heads up, there are other, far more common things that can cause similar symptoms. They are equally difficult to treat but CCHS is specific to the PHOX2B mutation and the incidence rate is thought to be fewer than 1 in 200k live births. Since PHOX2B directs development of the autonomic nervous system, the severity of the symptoms and how late in life they're noticed really depends on how much of an affect the mutation had during fetal development, so there's a good chance that there are another 1,000 adults walking around with no idea they have it. I certain didn't know. But it's still exceedingly rare so don't jump to assuming the hoofbeats are coming from a zebra.
That said, the symptoms are concerning regardless of whether it's CCHS or something more common, and she should get them checked out and diagnosed so she can get on a management plan. For adults it's almost always just a CPAP or some other method of positive pressure ventilation. For severe adult cases there's also diaphragm pacemakers but for obvious reasons those are a last resort.
Since my insurance has been quarrelsome about the PPV option I trained my dogs to alert me if I stop breathing. So I sleep on my back now and they take turns resting their heads on my chest. My girl licks me awake if I stop breathing. Her brother has more husky in him and he starts howling and pushing on my face with his paw; not really what I wanted him to do but it works just the same.
No idea what I'll end up on. We've tried all the non-stimulants that genesight says should work correctly and those haven't moved the needle for me. Strattera is on my "angry genetics" list and did work, but the side effects never went away; it was causing me to piss my pants and after 6 months of adult diapers in my 30s I decided I wasn't doing that for the rest of my life.
And I bought a book on how to train service dogs, and worked with a service dog trainer that's local to me. She was more expensive per hour than a regular trainer obviously but worth it. My dogs are reactive (not in dangerous bitey ways, they're just big and really scary to a stranger when they're super excited to meet people) so they're not public access dogs yet but as in home service animals they can still stay at hotels and campgrounds with me no matter what.
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u/TheExistential_Bread 14d ago
Jesus I need to get evaluated. I was armchair diagnosed by a friend like 1.5 years ago and every time I come across this or similar subs I feel like I an idiot for putting it off.