An SSM Health St. Louis Fetal Care Institute family graciously shared the story of their baby who had ambiguous genitalia on prenatal ultrasound and who was ultimately diagnosed with a disorder of sexual development (DSD). The mother wrote the following story about the family’s journey:
It was Christmas Day, and our family was enjoying our holiday in the warmth of the Florida sun. Unfortunately, something seemed wrong with my pregnancy, so we headed to the local hospital. After several hours in the emergency room, we were told there wasn't any cardiac activity and we had lost the baby.
A few months later I visited my doctor for a follow-up visit. While they were completing an ultrasound to verify the "success" of the D&C, which was performed after the miscarriage, the nurse stopped in amazement.
"I never get to be the first one to tell someone they are pregnant, but you are pregnant!" she said. Disbelief, excitement, and concern quickly set in. Disbelief that I was already two months pregnant. The excitement that we were blessed with another child. Concern if we would have another miscarriage.
However, over the next several weeks everything seemed to be progressing normally. We opted for the blood test to identify the baby's gender early and to screen for many health issues. We already had two daughters and would have been happy with a boy or a girl.
I received a phone call about a week later with the news that the baby boy looked perfectly healthy! Tears of joy were flowing steadily. I bought blue balloons, blue jelly beans, blue onesies and made a sign to surprise my husband that evening.
I quickly started preparing the baby room - changing things from pink to blue. We shared the news with our close family and friends, but we refrained from posting on social media.
The following month we had our next doctor's appointment. I told my husband he didn't need to attend since we already knew we were having a boy and typically this is what we learned at this appointment.
The nurse was excited to see me and asked if I wanted to know the gender. I explained that I already knew the baby was a boy but feel free to confirm. We giggled and then she gave me the look again. "Well I never get to tell someone that their blood work was inaccurate, but you are having a girl," she said.
We called the doctor in the room, and we laughed that I am never "normal." I asked him if the testing company would pay for all the girls clothing I had already donated! He said, "Probably not, but let's see if they will do another test to confirm that everything else was accurate."
I was expecting a call to schedule another blood test, but instead, I received notification that we were being referred to a genetic counselor. I was confused, worried and frustrated. Why did I need a genetic counselor? What else could be wrong? After talking with my doctor, I learned that the conflicting blood test and ultrasound results revealed a complicated set of possible issues, which is why genetic counseling was recommended.
Fortunately, the genetic counselor was able to schedule something quickly because I worried every day until our meeting.
My husband and I met our genetic counselor, Rachael, in her office at the St. Louis Fetal Care Institute at SSM Health Cardinal Glennon Children's Hospital. As I walked in, I saw parents in front of the hospital crying. My mind started racing, and everything seemed like a blur. What are we doing here again?
Rachael was extremely welcoming and calming. She wanted me to explain why I was here and hear our story. She listened, and we could tell she cared about our family. She asked about our two daughters and really wanted to understand everything she could about our situation.
We then started talking about possible options. I couldn't hold back the tears. It was overwhelming and scary. How could my child have anything wrong? We have two perfectly healthy children. The ultrasound showed a baby girl. Their test was just wrong.... However, we talked about next steps and options, and I agreed to amniocentesis.
We soon realized the original test wasn't wrong and neither was the ultrasound.
Our baby had the genetic makeup of a boy but looked like a girl on the ultrasound. However, there were some characteristics that looked male - so they kept referring to the word "ambiguous." So they couldn't confirm if the baby was a boy or girl. We felt lost and confused. We stopped preparing the baby's room, the clothes, pictures, accessories, etc. Questions and thoughts began to overwhelm me.
What are we going to tell the family?
What about friends and colleagues?
How do we tell them?
Do we tell them?
What if someone asks the gender of the baby? How can I respond without crying?
Is our child going to be judged?
Is our child going to have social issues?
Will our child be confused about their gender?
What if kids are mean?
How can I keep this a secret?
Do we want to keep this a secret?
Our next few months consisted of regular visits with our team of nurses and doctors. We shared lots of tears as well as laughter. We developed friendships and had an amazing support network. We had our genetic counselor, genetic doctor, nurse coordinator, ultrasound nurses, pediatric doctors, endocrinologists, and urologists.
Every conversation and test gave us another piece to the puzzle. However, all the pieces wouldn't fall together until the baby was born. We finally accepted that we would have to be patient. There were days when we were strong and days when I broke.
We decided to tell everyone that we received conflicting tests and we were going to be surprised on the gender. We were fortunate because the baby had no known health issues. We are very open and accepting, and this child would be loved no matter the gender. We knew we would teach this child to be strong and overcome any issues regardless of their gender.
We asked lots of questions and did lots of research. We confided in our closest friends and family. Our hospital team guided us through every step. They helped us work through the questions, concerns, frustrations, and perspective. We realized that if we hadn't had the original blood test, we would have never known any of this information. We are now equipped with the knowledge to have informed conversations and make informed family decisions.
The St. Louis Fetal Care Institute team was organized and efficient. There were things we couldn't control, but they had access to the answers or guidance we needed. They took our most challenging news and guided us into peace. We quickly realized we were in good hands.
We had our beautiful baby on November 2. Doctors and nurses were instructed not to identify gender or reference anything about gender until the baby was examined by the team. The baby looked just like a girl externally, and I would have never known there was a genetic difference.
We shared the news of our new baby with a small group of friends and family but waited to share with everyone else until we had more answers.
I was discharged eight hours after delivery and transferred to SSM Health Cardinal Glennon to be with our baby. We were in the NICU (neonatal intensive care unit) for a week after our baby was born. Our team now expanded to a floor of amazing nurses and more doctors.
There were possible concerns about regulating cortisol levels. There were questions about complete or partial androgen insensitivity. We found ourselves in the waiting game again, but we were now waiting with the most precious child in our arms.
Fortunately, our team regularly visited our NICU room and shared updated information. We soon learned our baby had complete androgen insensitivity syndrome but was completely healthy.
In simple terms, androgen insensitivity syndrome means that although our baby makes male hormones, the cells were unable to respond normally, sending mixed signals during development.
Everyone confirmed what I already knew for months in my heart - we have a healthy and beautiful baby girl! She is the happiest baby on this planet, and she is adored by everyone. She has the most beautiful blue eyes and a heart of gold.
We realized that we are fortunate because there could have been so many other diagnoses. We saw many sick children during our hospital visits, and we are truly the lucky ones. She will have some struggles later in life. She will not be able to have children, and she will miss having a monthly period (but I'm not sure I would classify that as a struggle).
There will be some tough conversations, but they will be full of love and support. I've already started the conversation of adopting a child to help our family understand that just because they can't physically have a child doesn't mean they can't be a parent. Our conversations about acceptance are more prevalent in our family as well as socially. We are better parents and individuals than we were before. Everything happens for a reason, and this was a beautiful reason.