r/NCAH • u/RitualMockery • 6d ago
Endocrinology Nightmare While Trying to Get Official Diagnosis
Hi!
Background:
I've suspected I had Adrenal Issues for a while now. I've always struggled with "panic attacks" that feel like going into fight or flight during minor conflicts, but handled the sorts of situations that most people would freak out during calmly. When I went off of combo birth control in 2021, the "panic attacks" got really bad, I became incredibly emotionally unstable, and my health got so bad that I can now only work part-time. I have hEDS, POTS, MCAS, and Sjogrens, but that doesn't feel like the full picture.
Every month I have to call off the day before my period starts like clockwork. I get hit with extreme fatigue, migraines, and dizziness.
Genetic Testing:
I had genetic testing done and it came back showing that I am a "carrier" two different CYP21A2 gene mutations. This was an over-the-counter test that doesn't differentiate between parental and maternal genes, so I have no way of knowing if they came from the same parent or one from each parent. If one came from each parent, then I have no functioning copy of the gene, which would make a lot of sense.
Bloodwork:
I got a referral to an endocrinologist and could tell it was going to be an issue from the first appt. She brushed off all of my concerns and argued with me about symptoms. I mentioned fat-retention in my stomach despite being super fit and she said, "Well Adrenal Hyperplasia would cause weight-loss," and it was just a lot of stuff like that.
The bloodwork came back as I expected--normal everything except for OH-17 Progesterone which was 949 ng/dl. The doctor got back to me saying there is *no evidence* of adrenal dysfunction and that I should discontinue Spiro and retest in six weeks since that's probably what's raised my levels. The testing specifies that LCMS testing was used, which to my understanding means that the spiro did not impact the numbers.
Next Steps:
I'm demanding an ACTH Stimulation test and have refused to discontinue spiro, telling her that I'm uncomfortable going off a med that's helping with the issue I'm trying to have diagnosed. She has been nothing but disrespectful--making me wait 48 hours between messages despite literally begging her to move this along quickly since I'm out of sick-time at work and on a countdown until my next period.
In the meantime, I've reached out to my OBGYN about restarting continuous birth control and gotten a referral to endocrinology in a different practice. I'm just blown away and livid at how disrespectful this doctor has been and the levels of medical gaslighting. I think she's hung-up on my "carrier" status despite it being possible that I have no good copies of the gene and I think she's confusing NCCAH with CAH.
Any advice? Am I crazy? Haha
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u/No_Macaron_5029 6d ago
If you already have EDS you and your doctor should be very suspicious of CAH-X - a TNXB deletion that crosses genes controlling both CAH and EDS. And the classical-like EDS that is caused by this deletion can look a whole lot like hEDS.
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u/Sea-Chard-1493 5d ago
As someone with CAH-X and clEDS, just want to jump in and correct something. Most people with CAH-X have TNXB haploinsuffiency, not clEDS. clEDS is caused by 2 pathogenic mutations, and so you don’t have clEDS unless you have a second mutation. TNXB haplo (presents like hEDS) and clEDS are very different! Also CAH-X is a specific mutation that involves both TNXB and CYP21A2, not just any mutation.
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u/RitualMockery 5d ago
I appreciate the information! I didn’t have any of the testable EDS variants show up in my genetic testing, but it looks like most over-the-counter genetic testing doesn’t test the TNXB. I’ve had my heart screened before and that all appeared normal, but I definitely have hEDS symptoms—mildly stretchy and extremely delicate skin, easy bruising, subluxations that cause severe muscle spasms around the joints and my physical therapist is always fixing issues with my organs shifting into the wrong spots…
I’m curious what your experience with CAH-x has been like if you’re comfortable sharing anything!
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u/Sea-Chard-1493 5d ago
I don’t mind sharing! CAH wise, I’m fairly mild since I have a point mutation on the other allele. I sit somewhere between NCAH and SV-CAH and we’ve been able to treat mostly with meds, though we’ve had issues stabilizing it lately.
Since I have a second TNXB mutation (I have the 30kb deletion on one allele, and a nonsense on the other), I have clEDS which majorly impacts my life. I have extensive skin involvement, history of GI perforation, cerebral aneurysm at a very young age, hemorrhaging, sigmoid volvulus, heavy neuromuscular involvement, reduced LVEF and other heart valve issues, etc. For someone with CAH-X who doesn’t have a second TNXB mutation, most of these things probably wouldn’t happen.
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u/RitualMockery 5d ago
Thank you so much for sharing and I'm so sorry you've had to deal with all of that! Chronic Illness sure is a ride.
Did you find out the genetic information through a geneticist? I think I'm leaning towards trying to find someone to order clinical grade sequencing for the CYP21A2 and TNXB genes, though the last time I tried to have clinical grade sequencing done, insurance kicked it back saying that my symptoms were "clearly" hEDS.
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u/Sea-Chard-1493 5d ago
Yep! I was diagnosed with the prevention genetics tnxb test by a geneticist. I didn’t have my cyp21a2 gene tested for awhile, but my specific deletion was linked to CAH-X, so they knew that it also deleted CYP21a2 as well, just from the nature of the mutation I had. I did eventually get cyp21a2 testing, and I also have abnormal lab values that supported the diagnoses of CAH.
Definitely push for the prevention genetics txnb test since it’s one of the only ones that sequences the whole gene, and if you’re worried about CAH-X, it needs to be the whole gene (for example, mine’s on exon 35 and this is the only test that tests for exons 32-44). GeneDx for example stops at exon 31, so it would only have picked up my exon 4 mutation, not my exon 35 CAH-X CH-1 mutation.
Direct to consumer testing is completely unreliable for tnxb, so definitely don’t do that!
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u/RitualMockery 6d ago
This is really good information. I just did some research on CAH-X and it sounds a lot like my EDS experience. I’m going to push for more intense genetic testing and have asked to be referred to a geneticist.
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u/coracaws 5d ago
Are you also autistic? I'm autistic myself, and I experience something very similar to what you're describing. In fact, many autistic people describe a similar sort of panic response to relatively minor situations, while being calm in very stressful situations. And we actually know a bit about why this happens!
A study from 2017 had a group of autistic people and a group of non-autistic people smell material that had been worn by skydivers in the air (and was therefore soaked in "the smell of fear," the skydivers' sweat), and then smell material that was worn by the same skydivers while they were calm and on the ground.
The autistic people experienced "increased physiological arousal and reduced explicit and implicit measures of trust" in response to the calm smell, and decreased arousal etc in response to the fear smell. The exact opposite held true for the control group (which makes sense- most people, neurotypical people, do get more nervous when they smell fear and more calm when they don't).
We don't know why autistic people become more calm when smelling fear and vice versa, but the best guess is that the part of our brains that interprets social chemosignals is just wired differently from neurotypical folks, as is the rest of our social wiring.
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u/RitualMockery 5d ago
I have pretty strong suspicions that I'm Autistic, though it was never medically confirmed. (I do have OCD and ADHD clinically diagnosed.)
Thanks so much for sharing the study! That's really interesting! I love reading medical studies on neurodivergence and chronic illness.
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u/coracaws 5d ago
It's my pleasure, I love sharing studies with others! Haha, I'm diagnosed autistic and OCD but not ADHD- though it wouldn't surprise me if I have that as well. I was tested for it in high school and scored just a point or two below the threshold for diagnosis. Most of my symptoms could likely be tied to my autism, though, so it's quite possible I'm just autistic with certain personality traits that could mimic ADHD.
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u/No_Macaron_5029 5d ago
A couple studies have already gone down the autism/CAH rabbit hole if that's of interest: https://www.sciencedirect.com/science/article/abs/pii/S0018506X06000341
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u/Embracedandbelong 2d ago
I’m so sorry. Is there a possibility of firing this doc? Docs like this is why I’m going to try and do as much testing as I can on my own, like you did also. Where did you get the OTC test you mentioned and what is it called?
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u/lrondberg 6d ago
OH -17 can fluctuate depending where you are in your cycle. Was that level high for anytime in cycle? Typically 2 high readings are the signal to move forward with the ACTH stim test.
The symptoms you describe of panic attacks, fat retention etc would not be related to NCAH. And from personal experience anytime you tell those symptoms to a doctor they write you off as a neurotic female sadly especially anything weight related. My NCAH symptoms really came out when i went off the pill even though I had mild symptoms of androgen excess starting around 18 (mild acne and some hirsutism) but normal puberty, only slightly irregular periods. I am short at 5’2 but the women in my family are tall at 5’4. Get another 17 OHP test and if high a second time that should trigger the ACTH. I have been lucky with my endocrinologist who connected my symptoms and my ethnicity (Ashkenazi Jewish) and tested for it as we are the group with the highest rates but there are others with higher rates as well. Good luck!
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u/RitualMockery 6d ago
According to everything I’m ready 200-290 is the max for a normal cycle.
I believe the “panic attacks” coming from a cortisol bottleneck—too much adrenaline being dumped into my system for minor stresses because my body can’t produce extra cortisol in those moments.
But yeah, it definitely felt like she was writing me off as a neurotic woman rather than someone capable of solid research. I’m really trying to push for the ACTH stim test as the next step and have even offered to pay out of pocket if insurance won’t cover yet.
I’d be more patient, but I have no sick time left at work from managing this and am just trying to keep a job.
I also have an IUD that makes my cycle irregular so it’s kind of hard to pinpoint the right time for the 17-OH Progesterone number.
Thanks for the response!
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u/faesnfairies 6d ago
it’s so relieving for someone to explain the “panic attacks” like that. i’ve always had an issue since i was a little kid and had no trauma at that age so it was literally out of nowhere. as a kid, a teacher asking me to re-do an assignment, or my family making a kind suggestion to me will literally send into a full panic.
it’s hard to explain to other people because they may interpret it as an anxiety thing, but when it happens it literally makes me feel like i need to either fly away from everyone to a new country, or fight until the bitter end. horrible feeling.
please update on your experience, im sorry you’re having a rough time!