Thirteen years ago I was diagnosed with a genetic disorder called Congenital Adrenal Hyperplasia. There are different forms of it, if you have ever heard of it before it's probably been the classic form where girls are born with ambiguous genitalia and the sex of the baby cannot always be determined by looking. It's more than that, though. The classic form can be fatal because it can cause salt-wasting. The non classic form, which I was told that I had, has symptoms like irregular menses, hair loss, weight gain and other delights. The symptoms are very much like Polycystic Ovarian Syndrome but PCOS is based in insulin resistance while NCCAH is based on a body that doesn't make enough of the hormone cortisol and in trying to stimulate the adrenal glands to make enough, too many other hormones are produced and things get out of whack.
So I was told I was essentially infertile on my own, and my husband and I would need genetic counseling if we did decide to have children with fertility assistance. CAH can be fatal in infants and children if there is salt-wasting or an adrenal crisis occurs. I was twenty six years old and had been married for three years. I grieved. I always wanted a baby, maybe two. My husband was less certain, I knew he was a fence sitter. But this seemed to close that door for me. But my husband, I think, was in some way relieved, he could now freely state that he was positive that he did not want children. Ever.
For several reasons it was a rough patch for us at that time. There were growing pains for us. Some typical of young marriages, some maybe less so. And then we found this out and it seemed to help us find some common ground again and we worked out some issues and moved on confident that not having children was the right course for us, the only course, really, since I was defective.
Fast forward to December 31st, 2012. As I am being triaged in the emergency room I have to make sure they know I have CAH, because I will probably need steroid support to keep me from having an adrenal crisis after vomiting more than I ever thought was possible for one human to vomit. It is noted in my charts, the next few days were a blur for me between dehydration and massive amounts of dilaudid for pain control. Things got more clear after a PICC line was started and I began to get hydrated for real 48 hours after I was admitted. CAH was not brought up again and I kept forgetting to ask. I assumed at some point, I was given steroids.
Seeing my new GP once I was sprung she noticed that I had not been given steroids, she asked some questions and we focused on the issues at hand. It kept kind of popping up in the back of my mind. So after a couple months, I asked my psychiatrist and therapist if it was possible that my adrenal issues could be affecting my anxiety levels. Their answers were a resounding YES. So I asked my GP if we could test that. We did, and holy wow did I open a can of worms. My results were not what we expected. So she referred me to a new endocrinologist.. Which made sense anyway, since I am now diabetic and have a thyroid that has decided to crap out on me as well. So I go. More blood was drawn. Saliva was collected. Again,the results were not adding up. He decided on one more test, an ACTH stimulation test, which would be conclusive once and for all.
It was conclusive, and the conclusion was that I do not have this genetic disorder. I never did. The labs all indicate that I have healthy and functional adrenal glands. My CT scans from pancreatitis were reviewed again to look at my adrenals glands, no lumps or bumps on them. Healthy. Which is good, do not get me wrong, one less thing that can kill me? Yeah, I am more than happy to take that. Bring that shit ON.
But also, I was probably never infertile. I was never at risk for passing along a fatal disorder. I had choices that I never thought were going to be available to me. But I'm not 26 anymore. And my health has taken a serious hit this year. And my husband is more convinced than ever that he doesn't want to share his life with children. Just when I am realizing it's something I might have wanted after all. But if that door is still open at all, it's closing fast. And there is only one person I would want to have children with, and he is positive he doesn't want them.
How did that happen? There was a shitload of blood work to get that diagnosis, it's a fairly straightforward process. It's not really something that could be accidentally interpreted. And even if it was, I had follow up labs. I had followups after she began treating me with steroids. For a year. I was on corticosteroids for a year. For nothing. Steroids that can impair your insulin response. And that reproductive endocrinology clinic has since closed down and my records were lost in one of the floods in my house, and my new doctor could not get ahold of my original labs to see why I ever would have been misdiagnosed.
So that's where I am now. I have known this for nearly a week and the shock of it all still takes my breath away and makes me cry. What I am most angry about, I think, is that with proper treatment I might not have ended up diabetic at age 38. That we could have treated my insulin resistance and I could have implemented lifestyle changes 13 years ago that would still be benefiting me today. And I also feel like I have some more grief about choices I never had the chance to make. I am sad and I am angry. I am so angry.