Worth It: Adopting a Child with CAH

December 2, 2016 ambiguous genitalia, congenital adrenal hyperplasia, Disorder of Sexual Development, November 2016 Feature - Urogenital, Urogenital System 3 Comments

When my husband and I first reviewed our daughter’s file, our first thoughts were of disbelief. Here was a perfect, healthy, beautiful eight-year-old who had been waiting for several years on the Shared List. It seemed unbelievable that no one had snatched her up. After all, the special needs listed in her file didn’t seem like that big of a deal: urogenital malformation, absent uterus and ovaries.

We accepted without hesitation, even though the medical information in her file was practically nil. There was a sentence or two describing her ambiguous genitalia, the results of a chromosomal karyotype indicating 46XX, and a fuzzy, unreadable copy of an ultrasound, both done around three years of age. There were no pictures of her genitalia included, and for that I am grateful. Although it would have saved us from several surprises when we arrived home, I personally believe the benefits to us as parents would have been outweighed by the lack of privacy as various families reviewed her file and declined, not to mention the emotional trauma it could have caused her to have adults photographing her.

The ambiguous genitalia didn’t bother us — my husband and I are of the belief that one’s genitals aren’t the defining characteristic of a person’s gender identity, and we both felt educated and prepared to parent a child who may or may not agree with her assigned gender.

Although we were scared of the possibility, we were also willing to step up and help our child transition if it turned out that our daughter was actually our son. The hardest part for me emotionally at that time was her lack of fertility — it seemed so unfair that she would never know anyone who was biologically related to her. My husband, ever the calming presence in our marriage, reminded me that families are built on love, not biology. “Besides,” he said pragmatically, “she may not even want children. We should just be grateful that she’s healthy.”

Several months went by. We received an update, including new measurements which indicated that our daughter was growing quite quickly. All of her records indicated that from birth and up until around five years old, she had remained solidly in the 50th percentile for height, but around age six her height had suddenly shot up to the 95th percentile. We had dismissed the previous measurement in her file as inaccurate — we had heard Chinese measurements often were — until we received this update and realized she was still at the 95th percentile for height.

I began to worry.

Was she actually older than her file stated?
Was this a mistake, were these the measurements for a different child?
Did she have some sort of pituitary tumor?

I obsessively researched and kept running into the same term: Congenital Adrenal Hyperplasia, or CAH. It is an endocrine disorder that affects the adrenal glands’ (located on top of each kidney) ability to produce cortisol, a hormone that regulates the body’s response to stress. I learned that this lack of cortisol production results in the overproduction of androgens. Both males and females produce androgens, but they are found in higher levels in males. CAH can cause masculinization of females in the uterus and is the most common cause of ambiguous genitalia in females. Most tellingly in our daughter’s case, CAH can cause very rapid physical growth in undertreated or untreated individuals.

However, this didn’t make sense to me — CAH typically results in death in infancy if children are undiagnosed, because illness, such as diarrhea, fever, or vomiting, causes adrenal crisis. The CARES Foundation’s website explains that “[p]eople who do not have adrenal insufficiencies naturally produce up to ten times the normal amount of cortisol, which is vital to the maintenance of blood pressure and heart muscle tone, as well as sugar and salt balance, during times of physical stress. When illness or injury occurs in adrenally insufficient individuals, however, an immediate additional dose of glucocorticoids (hydrocortisone) is necessary to avert adrenal crisis. Delay in administration of these medications can lead to shock, heart failure and death.”

Reading that had me convinced that our daughter couldn’t have CAH and have survived for so long without treatment. Besides, although CAH can affect genital development, causing clitormegaly and/or absent or shallow vaginal canals, there was no research connecting it to lack of internal reproductive organs. That’s what I thought, until I read a random post on the Facebook group for special needs adoption from China. It mentioned the different kinds of CAH, including the term “simple virilizers.” Fascinated, I began more research and learned that my understanding of this disorder only included the most common, most severe type: salt-wasting 21-hydroxylase deficiency (21-OHD). As I had thought, this form of CAH typically results in death in infancy if untreated. However, there were also different severities of 21-OHD, including simple virilizing CAH and late onset CAH, as well as the rarer forms of 3Beta-hydroxysteroid dehydrogenase deficiency (3B-HSD), 11-Beta hydroxylase deficiency (11B-HD) and 17-alpha hydroxylase deficiency (17a-HD).

Armed with this new knowledge my husband and I sent our daughter’s medical records to an international adoption doctor. (We hadn’t previously done this because we assumed that her file was so sparse that the information we would receive would be minimal. I’ve learned my lesson now and would encourage other prospective parents to have their children’s file reviewed by a physician who is knowledgeable regarding international adoption in general and China adoption in particular.)

When I shared my concerns about CAH, she agreed that it looked like our daughter would likely be diagnosed with this upon arrival in the United States. She went on to educate me about the disorder, including the fact that most individuals with CAH do not consider themselves to have a disorder of sexual development (DSD), or to be any less female than their non-CAH counterparts. Then she gave me the best piece of news yet: “About her ultrasound. It was done so early, her uterus and ovaries would have been tiny. It is very likely that they could have been overlooked, especially if the technician was not very well trained in what to look for.”

Immediately my discussion with my husband several months before came to mind. In the space of the phone call with this doctor, we had gone from having a healthy but infertile daughter to a daughter who would likely be able to bear children but also had a chronic, potentially life-threatening disorder. I couldn’t help but laugh at the irony of it. But here’s what I know as truth — I knew it instinctively then just as well as I know it now — it is extremely likely that we would have said no to our daughter’s file if it had included a diagnosis of CAH.

We were ignorant of what congenital adrenal hyperplasia was. We were scared of how a chronic illness would affect us and change our lives. In our naïve, pre-adoption state, we had felt prepared for social issues regarding gender — definitely not for medical specialists and multiple doctors and potential surgeries and lifelong daily medications and carrying an emergency injection around with us everywhere we went!

Once we met our daughter in China, I thanked God that we had not let fear or ignorance get in the way of joining her to our family. She was wonderful and clever and strong-willed and brave.

We visited our pediatrician shortly after arriving home. She is a lovely, intelligent woman, but she has very little experience with CAH. Because of this, as well as the fact that our daughter appears quite healthy, she did not want to give us the emergency referral to a pediatric endocrinologist that I requested. “Emergency referrals are for things like diabetes,” she told me. “Things that could be life-threatening.”

This is where having a group of CAH warrior mamas in my corner came in handy for the first time.

Although I do not like confrontation, especially with people in positions of authority, I held my ground and spoke with conviction. I knew beyond a shadow of a doubt that my child had CAH and needed a diagnosis and medication. Although it didn’t appear to be an emergency now, as soon as she got sick it would become a life-or-death emergency. My voice shook, but I educated her as best I could and refused to take no for an answer. My daughter’s health was at stake. Thankfully, the doctor was open to hearing me, and we ended up with an appointment with the pediatric endocrinologist less than a week later.

Our first visit with the pediatric endocrinologist, Dr. M., was hard, as my daughter still did not trust me very much. She also engaged in what I was coming to learn was a nervous coping mechanism: hyperactivity, refusal to speak to anyone or be still for longer than a few seconds, and giggling excessively. Dr. M. ordered lab work, but he expressed confidence that it would come back with a diagnosis of CAH. The physical exam he performed was also the first time I saw my daughter unclothed. Years of excess androgen production had caused her genitals to be much more virilized than described in her file, she already had pubic hair, and she didn’t have any vaginal opening at all. To say I was shocked would be an understatement. How could China have missed this? None of it was mentioned at all, despite its obviousness. Again, my husband was the voice of reason. “She won’t need surgery right away, and she might choose not to have any at all. This gives us time to bond and to learn who she is. Besides, it’s still not clear if she thinks of herself as a boy or a girl.”

He was right, of course, and his words calmed me. It was true that our daughter was quite androgynous. I do not attribute this to CAH; rather, I think it is just who she is. She looks, dresses, and acts in a manner that makes it impossible to easily tell if she is a boy or girl. She refuses to let her hair grow out or wear dresses, and is just as comfortable wearing a shirt with a motorcycle or one with glitter. She identifies as a girl to the extent that it matters at 8 years old: she calls herself a girl and uses the girls’ restroom. But was this because she had always been told she was female, or was it her true gender identity? Our brand new relationship and the language barrier made it hard to discuss, so we just didn’t know with certainty. But we did know this: it didn’t matter one bit to us. She is our child, and in my opinion her androgyny just adds to her charm.

Not long after the visit to the endocrinologist, which did result in a diagnosis of simple-virilizing CAH, she and I sat down with a book that should be mandatory reading for any parent of a child with this condition: Congenital Adrenal Hyperplasia: A Parents’ Guide, by C.Y. Hsu and Scott A. Rivkees.

We looked at some drawings showing the Prader Scale and talked about how some girls’ bodies look like this and others look like that. I also told her, in the most basic English I could manage, along with lots of eye contact and A-okay hand symbols, “You girl, jie jie (older sister), okay. Mommy loves you. Daddy loves you. You boy, ge ge (older brother), okay. Mommy loves you. Daddy loves you.”

As scary as that conversation was to have as a parent, especially with a child who hardly spoke my language and barely knew me, it opened the doors for increased trust and bonding. She shared that she is a girl, but it does not bother her if people think she is a boy. Amazingly, my fears about her small, private, Christian school classmates were unfounded. None of them have had any issues with her androgynous appearance and everyone, students and adults alike, have accepted and befriended her with ease. But then again, she is so confident and charismatic that how could they not?

Not long after, we visited Dr. M again and had another ultrasound conducted. Once again, the technician could not find any evidence that our daughter had a uterus or ovaries. Our second visit to Dr. M. is also when I, once again, was reminded of the value of educating yourself on your child’s medical condition, creating a village for yourself with other parents who have walked similar paths, and advocating for your child.

Although I am sure this doctor meant well, there were several instances where he dismissed my concerns. For instance, our daughter’s renin level was elevated. This indicated that she was losing salt in her urine, which typically requires treatment with a medication called Florinef. Dr. M. disagreed that she needed it, saying that if she were a salt-waster, she would not be alive.

This was in contradiction to my own research and the information being given to me by my fellow CAH warrior mamas, and my husband and I made the decision to change endocrinologists. We decided to travel three hours from our home to visit Dr. A., a pediatric endocrinologist who specializes in working with children who have disorders of sexual development. In fact, she had recently opened up a clinic for children and adolescents who had DSDs or were transgender.

Immediately we felt a sense of comfort with and trust in her level of experience that we had not felt with the previous endocrinologist, despite his kindness. Dr. A. listened to my concerns, including worry about my daughter’s renin levels, but more importantly she listened to my child.

And then she gave us the news that floored me: “Her anti-mullerian hormone levels, while lower than typically expected for a girl her age, are higher than we’d expect if she didn’t have ovaries. It is very likely that she has them. These levels, combined with her pubic hair, developing breast buds, and acne, indicate that she is probably close to starting puberty. We’ll need to either consider medication to prevent puberty if she is unsure of her gender identity, or prepare for surgery to create a vaginal opening for her sooner rather than later so that she can menstruate.”

With that, we were back to where we had been months earlier. With every answer we had received, we were left with three more questions. Although my daughter shared that she didn’t want breasts like Mom, she didn’t have the English to explain whether it was because she wanted to be a boy or because she didn’t want to be different from her classmates.

We currently have an appointment with the endocrinologist and a pediatric urologist, where we hopefully will get some more answers.


cah


Here is the final thing I know as fact, though: Whatever the future holds for my child, whether she remains a girl or asks to transition to a boy, whether she is infertile or not, whether she wants children or not, regardless of all of it — she is worth it. She is worth all the confusion, all the questions, all the medical appointments, all of it.

She is precious, amazing, and perfect, and we couldn’t be more proud to be the ones walking along this journey with her.

– guest post by an anonymous mama; image by Tish Goff



3 responses to “Worth It: Adopting a Child with CAH”

  1. Brett says:

    What an astoundingly sensitive, informed essay on preparedness, acceptance and the full measure of “fearfully and wonderfully made”.

    Another example of why NHBO has impacted a far broader audience than Chinese special needs adoptions: Life is complicated on the good days. Thank you for showing us ways to negotiate those complexities never losing sight of Grace.

  2. Lisa says:

    Love to hear lots more on DSD’s as I have 1 from China home and 1 more on the way home in the next month both with a DSD. I’d love to adopt one more with a DSD too so the more info I read the better! And yes my kids are both worth it!!!!

  3. Lisa Baker says:

    I would love to hear more. Thank you so much for sharing! My adopted daughter (from Russia) is currently 8 years old. All along the way, I knew something was up but I listened to everyone tell me lots of girls are tomboys. I was told I should stop asking my daughter if she wanted to be a boy when she grew up. Just last year she started growing pubic hair and getting lots of acne. The doctor told me it was just early puberty but at my persistence, did an examination on her. I could tell by the look on her face that something was up and was not surprised when she told me she was not a boy or a girl….but I am still very worried. We have more tests to go. I want to the right thing. I told my child, I would love her/him no matter which gender she wants to be!

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