Personal Stories

Yes, I would like to know the sex of my baby - a short, but eternal, journey of sex assignment (June 2011)

Eva’s birth story (January 2012)

A year after my daughter’s birth I still cannot talk about that day without my eyes filling with tears. It was the most incredible day of my life and the most terrifying.

Around 1 AM on November 22, 2010, my husband drove me to the hospital because I was having really bad “cramps” and some spotting. Being only 35 weeks and 6 days along in my pregnancy I didn’t pack a bag or take anything with me because I knew I would be sent home after some monitoring. Twelve hours later our daughter, Eva, was born.

She came into the world as calm and quiet as she is now. We had to keep rubbing her to get her to breathe and I don’t even remember her crying. She was perfect. As soon as she was born the Facebook posts were up and text messages sent. “She’s here! Four weeks early and 6.5lbs!” My husband even spelled her middle name wrong on his post causing a lot of teasing from my mom.

I had done it! I had given birth! I had done it my way with no drugs and survived! I felt like I could fly until two serious looking doctors walked in and asked everyone, but my husband and I, to leave the room. From the looks on their faces I knew something bad was coming. They told us that they had noticed that Eva’s genitals were unusually swollen and, on exam, thought they could feel testicles. I am not sure what else they told us except that sometimes babies born with ambiguous genitalia can die if their bodies don’t process sodium correctly so they wanted to take her to the nursery right away.

Two hours after being born, they took Eva to be in the nursery overnight and then they were going to transport her to the NICU of a hospital in the next town the next morning. We had a parade of doctors in and out of the room for the rest of the time there but I don’t remember much except for praying that my daughter would survive the night.

Tuesday morning they took Eva by ambulance to the hospital a couple towns east of us to be admitted into the NICU. They told me to go home, shower and take care of myself for a few hours. When we got to the hospital everyone was very nice and we started meeting the team that would take care of Eva while in the NICU. We met her Pediatric Endocrinologist, Dr. H, who was very nice and tried to explain to us about Androgen Insensitivity Syndrome and what tests he would be running over the next week. Since she was considered a preemie and they were worried about how she would process sodium, he told us that Eva would probably be in the hospital for a week or more. And, since she was born the week of Thanksgiving that would slow down any test results. He told us that we should wait to assign sex until we got the test results back but my husband and I had been saying “Baby Girl” since before we were even pregnant so I could not handle that change and insisted they refer to her as “she.”

My parents were by our side at all times through this so we took turns sitting with Eva. Since I just gave birth the day before I was not doing well physically nor mentally so I had gone to lie down. My dad and my husband were taking a shift sitting with Eva when I went in to check on them. I walked in on a group of people surrounding the two men and Eva. My dad was holding her and from the look on his face I knew he was really upset about something. The doctor leading the conversation introduced himself to me (Pediatric Urologist) and then went on with what he was saying. At first I was angry that he had done an exam on my baby without me there and I just got angrier and angrier as he spoke. He chastised us for announcing the birth of our daughter, he told us we should not talk about her with family or friends until we could do more testing, and at one point even questioned my husband’s knowledge of Spanish (his first language). He went on and on about girls turning into boys at puberty and started talking about reconstructive surgery we could do to make her look more like a boy. We were asked questions like “Any possibility you two (my husband and I) could be related?” and I was told that my fertility problems might have cause this to happen to Eva. I have Polycystic Ovary Syndrome so he said the extra testosterone in my system could have affected her development. Thinking back now I should have cut him off right when I walked into the room. It was too much information to throw at two new, scared parents and he seemed way too excited about finding a “case.”

I had given my mom permission to talk to my aunt about what was going on and she sent us a link to Accord Alliance’s web site that has a handbook for parents and gave us the exact opposite recommendations and encouraged us to talk to a small group of people we trusted. The web site also encouraged us to stand up for our baby’s right in not being a test case for doctors. A few days later my husband and I were sitting holding our daughter when the Pediatric Urologist came back with an intern. He asked to allow the intern to examine Eva and I told him no. He said that if I didn’t allow him to examine her, we probably wouldn’t see him again before she was released from the hospital. I told him that I was fine with that and he stomped off. We have never seen that doctor again.

The beginning of the following week the Endocrinologist, Dr. H, met with us again and told us that from the test results he believed Eva had CAIS and we should raise her female. Her blood test results never waivered throughout the week so we were allowed to take her home. Dr. H wanted to see Eva again at three months old to see if her body changed much from birth. He told us to enjoy our little girl and we would deal with everything else many years down the road.

At three months we went to see Dr. H again and Eva’s body had not changed. But this time he said he felt she was not CAIS but nearly CAIS. I had been doing a lot of online searching so this change in terms made me nervous. . We had never been encouraged to find a support group or given any information on DSDs but I knew there had to be something out there. I searched until I found the AIS/DSD Parent Group on Yahoo. I wanted to complete a team for Eva but I was not going back to the Urologist we had seen in the NICU so I got permission to see a doctor several hours away and made an appointment

That Pediatric Urologist, Dr. B was wonderful. He made us feel right at ease and since I had joined the online AIS/DSD parent group I knew what he was talking about and what kind of questions to ask. He agreed that Eva was PAIS and not CAIS. He recommended we talk to a geneticist and do some testing.

We met with Dr. T when Eva was about 6 months old and she was upset that she hadn’t been called in right when Eva was born. I was disappointed that it had taken so long to get a “team” together but happy that it was happening. We did a blood draw and waited for results.

Six weeks later we received the results that the AIS mutation was not found so Eva would have the diagnosis of “most likely PAIS.”

After we received those results, we went back to see Dr. B so Eva could have an examination under anesthesia to check her anatomy. Dr. B wasn’t sure exactly what was going on with Eva’s body in areas that the camera wouldn’t fit so he asked we have an MRI done. Those results came back that she has no vaginal pocket so surgery would almost be guaranteed in her future.

Several months after that upsetting news, Dr. H called to let me know that he had read a new study on 5 Alpha Reductase Deficiency and he wanted Eva tested again. We put her through four days of shots and another blood draw just to find out that the results were inconclusive and we should have the genetic test done for 5ARD. Why we didn’t just start there, I don’t know.

Eight weeks later, Eva’s geneticist called and left a message to call her back on her cell phone. I knew that was not a good sign. The results were in and Eva was confirmed as 5ARD right before her first birthday. Not the result we were hoping to receive but it was nice to finally have a solid diagnosis. With this diagnosis another layer was added to the usual parental curiosity about who their child will grow up to be. There are days that the idea excites me. Our daughter is a completely unwritten story. We have no idea if we will always have an “Eva.” More days though are spent crying thinking about the surgery, and hurt, and pain that is waiting for her. I try to find strength in the saying “God never gives you more than you can handle” but many days it does feel like too much. I’ve stopped buying anything that says “daughter” on it because I don’t want her to look back and feel we pushed her one way or the other. My husband and I do not care if we end our life with a daughter or a son but the idea of her having to make that decision breaks my heart a little more each day.

(note from A clinician asked us to add the following comment: in the UK the majority of affected babies are always seen by a multi-disciplinary team of experts, incl Urologist, Endocrinologist and Geneticist who would join their skills from the outset in diagnosing a complex case like Eva within the shortest delays.)

Turning a corner – or about the time when I explained to my 8 3/4 year old daughter that she would not be growing babies in her tummy (July 2012)