Saturday, February 25, 2006

How I got here

I think I mentioned before that although my husband and I have “only” been TTC since June 2004, and we’ve “only” been undergoing fertility treatment since October 2005, I’ve been in an infertile headspace for much longer. Here’s the whole very very long story.

I’ve had irregular periods pretty much from the start. Throughout middle school and high school, I’d go anywhere from 6 weeks to 6 months between periods, and bleeding would last as long as 3 weeks. I never saw a doctor about it, though. My father is an endocrinologist (ironic, huh? Not an RE, though), and like I think many doctors’ children, we suffered from “the cobbler’s child has no shoes” syndrome—Dad took care of minor issues like flu shots and signing the physical forms required for sports participation, and beyond that you really needed to be bleeding from a major head wound to see another doctor. Also, I’ve always been very thin, and I was an athlete in high school, both things that the teen magazines told me might make my periods irregular. So I didn’t particularly worry about it. At one point my dad put me on the Pill to regulate things (another irony—how many teenagers get their dads to provide birth control for them? Not that I needed it), but I got lazy and went off it during my sophomore year in college. (Again, not that I needed it for actual birth control purposes.)

Well, when I went off the pill, my period disappeared, and my skin, which had been pretty decent before I went on the pill, became a mess. As in, still-bear-the-scars mess. I don’t remember whose idea it was, but the summer after my sophomore year in college (the summer of 1993), my dad had me come into his office for a few blood tests.

The results indicated pretty clearly that I had a rare congenital disorder called late-onset congenital adrenal hyperplasia (LOCAH), also known as nonclassical congenital adrenal hyperplasia (NCAH). (The classical version of the disease can be life-threatening and so is now screened for at birth in many states; the nonclassical version is very mild and often goes undiagnosed. Part of the reason I’m writing this is because I had a hard time finding information about NCAH a couple of years ago, and desperately wished someone had blogged about it, and so for anyone who might stumble across this entry while searching for info on NCAH or CAH: I had an ACTH stimulation test, which is explained pretty simply in that CARES Foundation link, and my 60-minute 17-OHP result was 190 ng/ml, or 19,000 ng/dl.) I also saw a gynecologist and had my very first pelvic exam ever (my mother wanted to come into the exam room with me. I was horrified. I was 19 years old, people) and my very first ultrasound wanding ever, which indicated that I also had polycystic ovaries—thus, I was also diagnosed with PCOS. (The PCOS diagnosis wasn’t based solely on the US—other bloodwork results, like my androstenedione levels, were also consistent with PCOS.)

(That gynecologist was a lovely woman, and she really took the time to make sure my virgin—in every sense of the word—gyno experience was as painless as possible. She even pulled out a drawing of a pelvis to show me exactly what she was going to do beforehand. I, of course, was pretty well prepped thanks to Sassy magazine. As wonderful as she was, though, I will always remember two things she said to me: “You see those things that look like Swiss cheese? Those are your ovaries” and the even more brain-searingly memorable, “Has anyone ever told you you have an enlarged clitoris?”)

These diagnoses led quickly to my very first RE, a really horrible man whose name I have burned out of my memory. I remember lying on the exam table, 19 years old and scared out of my mind, trying to hold back the tears as he rushed through my exam and appointment, scribbled out a prescription, and left without explaining a single goddamned thing. At any rate, he put me back on the pill, and on dexamethasone, an oral steroid that is a pretty typical treatment for CAH.

(I should say that I didn’t know or understand any of these test results or medical information at the time. I had copies of all my records, but never bothered to try to really understand them, or to do research into CAH or PCOS, until a few years ago. Again, as a doctor’s child, I tended to have a lot of faith in doctors, and just did what they told me, trusting that it was OK.)

Since dexamethasone treatment requires close monitoring, I clearly needed an RE in the city where I went to school. Luckily, my university was affiliated with one of the top teaching hospitals in the country, and my dad asked around and got me hooked up with a great (female) RE there. She reviewed everything that had been done up to that point and agreed with every diagnosis and decision. But since my acne wasn’t improving much, she switched me from dexamethasone to spironolactone, a diuretic that was at the time (so I understand) gaining increasing use as an anti-androgen (I don’t know how common it is for NCAH treatment, but today lots of women with PCOS take it). The combination of the pill and spironolactone kept my periods regular and cleared up my skin (and, looking back, spared me a decade-plus of being on a corticosteroid and all the attendant side effects, for which I’m grateful), and I was happy.

My college RE did warn me once that I would likely have trouble conceiving, and I should think about having kids “sooner rather than later.” I worried over that for months until my next appointment—did she mean I should try to have kids in my early 20s? I couldn’t even find someone to have sex with, so the likelihood of finding someone to have kids with in the next few years seemed low. When I asked her about it, she said no, she just meant that I should ideally be trying by my early 30s rather than my early 40s. (I found out later she herself had a child in her early 40s—and being an RE, her conception of having kids “earlier” was likely skewed.) She also said that, while “normal” couples are supposed to try for a year before getting “help,” since I had known reproductive issues, I could/should consider seeking “help” after only six months of TTC. (What that “help” was I didn’t know and wasn’t particularly curious about. I was a 20-year-old virgin, what did I care?)

So that’s how it is that I’ve known, or suspected, that I was infertile 10 years before I ever started trying to have a baby.

Anyway: I graduated, I moved to Big City. My dad kept me in birth-control pills and spironolactone, and I was doing fine. I somehow stumbled upon an ob/gyn who knew all about CAH—she said that her family were CAH carriers and were known as “family P” in all the literature—so I felt well taken care of and never bothered to find a new RE. At one point, my gyno told me that before trying to conceive, my future husband (as yet unknown) and I should undergo genetic testing, to see if he was also a carrier. (Again for the CAH curious: It’s an autosomal recessive disorder--remember Mendelian genetics from high school biology?) If he was, then there would be a 50% chance any child we had would inherit the disorder, but there were drug therapies that could be done while I was pregnant to treat it in utero.

Fast forward to 2004. I’d been married for two years. My previous gynecologist had stopped accepting insurance (unfortunately common among the fanciest docs here in Big City), and while that was doable financially when it was just one $150 exam a year, I knew it wouldn’t be okay if I got pregnant and had a baby. Which I was gearing up to do—I had just turned 30, my personal deadline for getting serious about TTC. So I did some research and discovered that there was one hospital in the city that had a birthing center, where you could deliver naturally but with L&D just one floor away if needed. Sounds good to me, I said, and picked out an ob/gyn affiliated with that hospital. I filled her in on my history, told her I wanted to see an RE before going off the pill, and she gave me three names. Dr. S., my current RE, was the only one who took my (at the time, very sucky) insurance, so Dr. S. it was.

Around this time I finally got on the internet to do some serious research about my conditions. I had always thought of my “main” diagnosis as PCOS, so any previous Google forays had been mostly about PCOS, and I had never thought that much about the NCAH part. But now I finally learned what caused CAH, why genetic testing was necessary, prospects for fertility, and more. It was a little overwhelming. (Some of the results of my research are at the end of this post, for those who are interested.) I also found Julie, and by lurking on her site, and Grrl’s, and many more, I was introduced to the amazing blog community, and I learned a heck of a lot more about the road ahead.

I saw Dr. S. for the first time in March 2004. He reviewed my previous test results and records, and said that in his opinion, I probably just had NCAH and not PCOS. My ovaries were polycystic (I had copies of my original US, of course) but didn’t have the typical “string of pearls” PCOS appearance. Mostly, though, he said that these days one of the criteria for PCOS diagnosis was no underlying adrenal issues. He said that I should under no circumstances TTC while on spironolactone (which I already knew—it’s a powerful anti-androgen and can feminize male fetuses); that I could TTC naturally for as little or as long as I was comfortable with before coming back; that I could do BBT charting, or not, whatever would make me feel better (I did, of course); and that I should definitely have genetic testing before going off the pill. He threw in a wanding, just for kicks. I actually liked him, that first meeting.

My husband and I went for genetic testing right away. We were both tested for CAH mutations; my husband to see if he was a carrier (for prenatal planning purposes) and me to find out which specific mutations I carried—there are a bunch of different mutations of differing severity, and knowing which ones would help with the prenatal stuff. And we threw in cystic fibrosis testing for me and the Ashkenazi Jewish panel for my husband.

Results came back in May: negative for everything. Everything, you understand—my husband tested negative for CAH mutations, but so did I. Huh? When I spoke to the genetic counselor, she said that they tested for the 9 mutations that are responsible for 95% of cases, and it was likely that I had mutations that their tests didn’t look for. She said my ACTH stimulation results (19,000 ng/dl) were actually on the high end for nonclassical CAH, so clinically speaking I clearly did have NCAH; they recommended that I have the specific genes sequenced so they could determine exactly what mutations I did have. (This would be beneficial for my siblings, so when they wanted to have kids they would know what to look for in their own genes.) They wanted to charge me $300 for it, though, and we’d already spent $1200 on the first round (not covered by insurance), so since I already had the key bit of info I needed—that my husband was not a carrier—I blew it off.

I went off the pill and spironolactone in late June 2004 and started charting my BBT. My cycle was never normal—it ranged from 42 to a high once of 75 days—but most cycles I did get a clear temperature surge, with my period arriving 13-15 days later. I still thought I might get pregnant right away—I was very focused on the NCAH at this point, not even thinking about PCOS. But as the months wore on, I started getting more frustrated—trying to time intercourse was impossible with my random cycle, and even when we accidentally managed to time it well, nothing happened. I tried the electronic fertility monitor (never once got a “high” or “peak” indicator) and OPK sticks (and established that I did indeed have an LH surge before the temperature surge). I became engrossed in my cervical mucus. The same dance every infertile woman has gone through, more or less. Nothing.

I had lots of time to think, and I started wondering if I should have gotten the sequencing done after all. (I also spent a lot of time obsessing about what the chances might be that my husband was also a carrier of one of the rare mutations the lab didn’t test for—after all, if I had them, why couldn’t he as well?--and from there what our chances would be of having an affected child.) Finally, I called the lab that had done the CAH genetic testing, sometime in early 2005. It turned out they had already started sequencing my genes, as part of their research. (No cost to me—yay!)

It would take a while, but by mid-summer the sequencing was done, and I had an even more confusing answer: no mutations found. At all.

I had just been getting ready to start fertility treatment (and had already had my day 2 FSH and various PCOS tests done), but Dr. S and Dr. New, the head of the lab (the country’s leading CAH researcher) conferred, and decided that before things went any further I needed to have an ACTH stimulation test done again, this time at Dr. New’s clinic—after all, I hadn’t had the test repeated since my initial diagnosis in 1993.

It was a little weird going to have the test done—since most people with classical CAH are diagnosed as children or infants, Dr. New’s clinic is in the pediatric ward. All the other patients in the waiting room were kids, obviously.

Results: At 60 minutes, my 17-OHP level was 156 ng/dl. (That’s compared to the 19,000 ng/dl from my original test.) In other words, totally normal. After 12 years of thinking I had NCAH, it turns out I didn’t have it after all. The doctor who called me with the results said that my other hormone levels indicated PCOS.

No one can figure out why my results would have changed like that. My dad joked that I’m “a completely different person now.” The best explanation Dr. S. could come up with was that maybe whatever laboratory assay they used in the original test wasn’t as sensitive as what’s used today, and it picked up the presence of some analogue of 17-OHP. It’s also possible that the lab just screwed up, or the test was done wrong somehow.

As confusing as this all was, it was kind of a relief. Less complicated treatment issues, prenatal issues, everything. I didn’t have to worry about my children being born with horrible genital deformities. I was thankful that I was taken of dexamethasone after only a few months, and so was spared years of an unnecessary and potentially harmful medication. I got a new job, with better insurance (that actually covered fertility treatment!), and by October the new insurance kicked in and we were ready to start treatment in earnest. I started taking metformin, and prepared for a letrozole cycle. Things were looking up.

Of course, less than four months after I found out I didn’t have one rare congenital abnormality, I learned I had another. And that brings us to the beginning of this blog.

As I said earlier, when I was researching CAH, I wished that someone had blogged about the experience of having it, or about TTC with it, or something. Just so I could hear a personal voice, know that there was a real person out there going through it too, not have to forge a path on my own. Maybe, I thought, I’ll even write about it myself. When I found out I didn’t have CAH, I let the thought slide. Then, when I was diagnosed with UU, I started this blog, first out of sheer pain and rage, and then, after a while, to help me order my thoughts about what was happening to me, and also, to let other people know that they weren’t alone. If this blog can help a single person get through the darkness the way all those other women out there have helped me, then it’s worth it.

I don’t have CAH, but I do have the years of thought and worry and research I put into it. And as long as I have this blog, I’d like to try to share what I’ve learned with other people struggling out there. If you’re new to CAH, and wondering about it, I hope these resources I found help you:

CARES Foundation
Lots of great basic info here.

"21-Hydroxylase Deficiency"
(All of these articles are about CAH due to 21-hydroxylase deficiency, the most common kind. There are other metabolic causes of CAH but they are much rarer.)
This article is dense but worth it. It explains the characteristics of CAH and NCAH, diagnosis, treatment, issues for pregnancies, and most of all, explains the genetics of both versions of the disease at length.

Maria New, MD is one of the top, if not the top CAH researcher in the country (and coauthor of the article above). Her lab did the CAH genetic testing on me and my husband; the lab link also has a much simpler explanation of the genetics of CAH, and why preconception and/or prenatal genetic testing is so important (hint: so your little girl does not have fused labia).

"Fertility in Women with Late-Onset Adrenal Hyperplasia due to 21-Hydroxylase Deficiency"
Pretty much all I cared about. Also this abstract. Both of these made me very hopeful that I could get pregnant naturally or just with Clomid. Of course, that was before everything got turned upside down.

"Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency"
This article had the key (to me) piece of information that if someone with NCAH (without genetic risk factors for the baby) conceives without corticosteroid treatment, she doesn’t need to start treatment during pregnancy. I couldn’t find where I read this, but I did read that the placenta protects the fetus from maternal hormone levels.


So that’s the long post I promised. And that’s how I got where I am today.


Anonymous Anonymous said...

I really thank you for posting something so personal and indepth, with the sincere intention of helping others like myself.

I was diagnosed with PCOS when I was 17, after many years of questions and on-going issues with my 'female problems'. I started to develop at age 8, began menstruating at age 9, and was over 5'6" by 12. To say the least, I was an early bloomer - or at least, that is what everyone chalked it up to.

Fast forward to today, and I'm still uneasy about my diagnosis, mostly because I have frequent periods, 'irregular' yes, but never had I skipped. I have been able to put a handle on them with the pill, but most definitely not enough of one.

Anyway - the point to my search for NCAH, I was watching Mystery Diagnosis on Discovery Health, as I always do, and they had a woman on there who was initially diagnosed with PCOS --- not news, I've been seeing it around more and more these days. But, they then revealed she had NCAH - and that got my wheels turning, which lead me to look up symptoms --- and, I have most - if not all.

I have been toying with the idea of making an appointment with an endocrinologist, but I've been hesitant about barging into a specialist's office with the idea that I have some rare gentetic disease and must be tested immediately... but, after reading your story, I have decided to persue it - even if it turns out I simply have PCOS with abnormal symptoms.

So, Thank you for your words, and I also wish you luck with your new baby in the Big City.


7:33 PM  
Anonymous Anonymous said...

So right you are my friend!
I've just started my numerous tests to try and figure out what it is that is wrong with me, and initially I was positive that I had PCOS.
There were millions of websites, and pages out there dedicated to infertility caused from PCOS of course.
Yesterday I received my test results and they want me to go back to have another; 17 OH Progesterone. Although PCOS isn't crossed off the list yet (testosterone levels are borderline), after doing some of my own research online I came across the reasoning behind the 17-OH progesterone blood test... CAH.
Now, I am almost positive that I have the Nonclassical version of CAH...
It all makes total sense to me...
So thank you! Thank you so much for sharing your story...and some links that I had missed on my own google mission.
Its nice to see some personality behind the term CAH!

11:41 PM  
Anonymous Anonymous said...

I totally relate to your story, and thank you for sharing it. I was diagnosed at 17 and spent the next 14 years on either dexamethasone, prednisone, and/or birth control pills. I also was told to expect infertility/trouble conceiving at least. I actually did get pregnant easily (but back when we were dating had warned my boyfriend/future husband it likely wouldn't happen.) When I was surprised by a third pregnancy and was undrugged (I stopped taking steroids when I felt my family was complete) I was nervous about masculinizing a female baby. I did CVS and both my husband and I were tested for cah mutations. I was just a carrier--which meant I couldn't actually have the disease unless I carried another mutation not sequenced on the test. I let it go (I was told further testing would be $1200 and wasn't sure of the point since my husband wasn't a carrier and I was not planning to take medication either way). I also saw top endocrinologists and did the ACTH suppression test among blood tests back when I was diagnosed. I really don't know what to make of the situation. A part of me is glad I likely am not passing along a dreaded mutation to my kids, but another part of me is so angry about all the years of steroids, side effects, and anguish. My periods are regular but I do have some excess hair growth and central weight gain. It's hard now to separate out what was caused by the steroids themselves. Anyway, it's helpful to hear that you did the further testing and it was consistent with the initial results.

6:51 PM  
Anonymous Anonymous said...

Thanks for this.. My daughter and son have been diagnosed with NCAH and it has been quite upsetting learning all about the condition. My daughter was a small petite girl until puberty when she got very stocky and hefty and picked up weight, became hairy and masculine looking. They firstly diagnised PCOS and then finally arrived at NCAH. I have joined the Cares Foundation which is absolutely brilliant with their information. My daughter is now quite overweight and her face has the roundness classic of cortisone medication. She has started losing her hair on her head and I worry so much about her health. Strangely my son had a cardiac arrest at age 17 although he is a very healthy young boy who gyms etc. Don't know if there was a connection witht he genetic condition. I worry so much that they won't be able to have babies one day. Most grateful for your story.

2:23 PM  
Anonymous Anonymous said...

I also thank you for your story. I have a 15 year old daughter that started having chest pains during exercise. She is a year around athlete and runs cross country for 5 years now. (in hindsite: developed pubic hair about 7yrs., started periods at 11yrs., has acne so bad that she has scars on her face and all down her back, and has problems with anxiety and depression regularly, also has weird amounts of hair on her back.)We thought the chest pains were symptoms of exercise induced asthma. Then the day came that she was running a 3mi. race and when she reached the finish line she fell to the ground and was unconsiouss for over 30 min. She then regained consioussness but of course we knew somthing was wrong. After testing for asthma we are told she has great lungs, after testing for epilepsy we are told no brain tumors and no seizures, after testing her blood we find she has unusually high cholesterol for her age and amount of exercise, and after testing her heart we are told she is fine, but her blood pressure did not really rist to where it should of during the exercised echo. Then we learn that her fathers side of the family including her father all have CAH. I had precosious puberty when I was 2 yrs and found out that that could be a contributing factor to our search of what is wrong with my 15 yr old daughter.
I am currently waiting for the information of the rare blood disorder that her fathers side of the family has in order to treat each problem that may arise for both of my daughters at this point.
You are all right about one thing. Trying to research this kind of thing when you have to be SO PRO ACTIVE IN YOUR OWN MEDICAL CARE these days is Maddening!

3:56 PM  
Blogger Rose said...

Hi, Can you tell me how you know that pregnant women don't need cortisteroid treatment to prevent a female fetus from being virilized? I'm in that boat right now, struggling with my peri. My email is Thanks!

12:19 AM  
Blogger SJB said...

Thank you so so much for posting this. I'm 21 and was diagnosed with PCOS only two months ago and am getting tested in several days for CAH. I'm terrified about getting pregnant someday, and my skin is absolutely horrific. It's the reason I ever sought a diagnosis in the first place- I went through Accutane for my skin and when I finished had beautiful skin, went off birth control, and now it's even worse than when I started.

It's a lot to deal with at my age- dating guys is scary because I'm afraid of having to tell them at some point that I may have difficulty getting pregnant.

And anyway- it's extremely reassuring and calming to read about other women's experiences and I thank you for your post!

2:40 PM  
Blogger Trish said...

Hi. I just ran across your post today. It's funny how the internet can make you feel not so alone. I've been trying for several years to get a correct diagnosis...still not happened.

I found a new Dr. and told him "PLEASE look at the bigger picture here and not just the symptom of the day" and he's being so much more in depth than my last Dr.

12:39 AM  
Blogger CJ said...

I realize I am finding this years later...however, if you still read comments, THANK YOU for posting it. I do ovulate but am infertile (perhaps crappy eggs?). My husband and I have been through several rounds of IVF without success. We just sought another opinion and the doctor pointed out that my 17-alpha hydroxyprogesterone was elevated. We will start with retesting me with that then ACTH... Ultimately, we will be looking towards some genetic testing as necessary before our last ivf cycle... I had never heard of, thank you for posting this info!

12:10 AM  
Blogger Consign and Design Home Furnishings said...

I was diagnosed a couple days ago with non classical congenital adrenal hyperplasia and she said that I would have to take steroids to conceive a baby, has anyone ever been through the process and can tell me about it?
Does it really take 30 months of steroids to get pregnant?
And has anyone gotten pregnant naturally without taking steroids with this condition?
What is keeping me from getting pregnant? My eggs, my hormones, what?

2:18 PM  
Blogger Consign and Design Home Furnishings said...

I was diagnosed a couple days ago with non classical congenital adrenal hyperplasia and she said that I would have to take steroids to conceive a baby, has anyone ever been through the process and can tell me about it?
Does it really take 30 months of steroids to get pregnant?
And has anyone gotten pregnant naturally without taking steroids with this condition?
What is keeping me from getting pregnant? My eggs, my hormones, what?

2:19 PM  
Anonymous Anonymous said...

I just got diagnosed with NCAH last week after years of blood tests and backwards and forwards to my doctor for them to only go try this pill etc. I am 27 and it took me to have a miscarriage for them to take me seriously (got pregnant after two years but had a early miscarriage. I have since learnt miscarriage can be a bit higher risk for someone with non treated NCAH. I have an appointment with fertility associates next month. At least it is another step. But we are not loosing hope as good things take time. Thanks for your blog as it helps a lot

5:50 AM  
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5:17 AM  
Blogger Unknown said...

How i got a cure for PCOS (polycystic ovary syndrome).

I actually promised myself that i will do this because i never in life thought i would be cured of PCOS because my gynecologist told me there was no cure and because of this i could not take in and get pregnant. I had PCOS (polycystic ovary syndrome) for 7 years and this was a big pain to me and my husband due to the downcast we felt for not having a child. I experienced irregular periods or no periods at all sometimes, heavy periods, i gained weight (fat). I seeked a cure from one doctor to the other used androgen, clomiphene, metformin and even traveled to different states to see other doctors to no avail. My husband got to know about Dr. ALeta via a testimony he read on the internet on how a woman got a cure and he contacted her with the contact she left. I got the herbal medication and used it for the speculated 3 months that was all i have a son who is just 8 months old. Do not give up just contact her on ( on how to get the herbal medication. Thanks and i wish you get cured soon too.

7:10 PM  
Blogger PAUL said...

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6:38 PM  
Anonymous Anonymous said...

Thank you so much for this blog.
I am a 42 year old doctors 'cobblers' daughter. Just be diagnosed with NCAH when I think it was fairly obvious I had it aged 6 years. Onwards and upwards and thank you again.

8:15 AM  

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