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Personal Stories

The Rollercoaster of a CAH baby girl

“I can say I am 80% positive you are having a boy” the sonographer told us. We were about 20 weeks pregnant with our first child and were ecstatic to find out everything was progressing well. My husband was over the moon to find out that his first born was most possibly going to be a boy.Late in November the moment of truth arrived. I had been having labour pains all week and had decided that finally it was time to go to the hospital. After a quick labour our little one was born at 1am.

We decided to name him Aiden*. The doctor seemed to be looking for something whilst she conducted her routine examination. We of course at the time were blissfully unaware of her apprehensions. We only had eyes for the little miracle that had come into our lives. After awhile she spoke to us and advised that she was concerned that his testicles had not dropped and that perhaps he had a hypospadias penis. She had arranged for the Paediatrician to speak with us in the morning. At the time we seemed to brush this off as relatively unimportant as Aiden* looked so healthy.

My husband drove home for a rest and to email our friends and family the good news while I was taken to the recovery room with Aiden*. I spent hours just watching him sleep (not getting any myself) I was just so amazed that I was finally a Mum. At 8am the Paediatrician arrived at my bedside and asked if she could take Aiden* away for observation, I agreed, thinking that perhaps I could have a bit of a rest.

For what seemed like an eternity away from Aiden* the Dr returned. She asked if she could have my permission to take photos of Aiden’s* genitals to email to a specialist. I blearily agreed. The euphoria of being a new mum was beginning to fade. I called my husband and asked him to come back to the hospital as I felt things were not all as they seemed.

By midday it was clear that something was wrong with our little one. The possible diagnosis of Congenital Adrenal Hyperplasia was then mentioned, Congenital what? Aiden* might be a girl? What did all this mean?We were both utterly bewildered. The nurses then told us they wanted to fly our baby to the city for further tests. At 3pm they placed him in the helicopter, leaving behind two emotionally drained and utterly confused new parents. To take him away from me after bonding with him for 9 months was one of the worst experiences in my life. 

The “not knowing” factor was excruciating.The country hospital I was in was unable to find me a postnatal bed in the city so I was discharged, 14 hours after giving birth. Some brilliant friends came to our rescue and drove us the 2½ hours to the city.

We checked into Ronald McDonald House. We arrived late at the hospital that night and eventually found our way to the special care nursery where Aiden* was being cared for. Tubes and cords were attached to what seemed like every part of his body. It was a daunting sight. His identification card had a number on it but his name was blank including his sex.

We were both mentally, physically and emotionally exhausted. The nurses told us that the specialist would see us in the morning as they were still running tests.For 24 hours we had no idea if we had produced a boy or girl. In the haze of sleep deprivation and confusion, it felt like we had produced a “faulty” child.Early the next morning we made our way back to the hospital and were told we would be meeting with an Endocrinologist. Again a term neither of us had heard before.

After what seemed an eternity (was probably only an hour) he showed us into a private room and in the company of one nurse and two registrars, he was pleased to tell us we actually were holding a beautiful baby girl. He explained about CAH and gave us some booklets. Numbness. That is the only way I can describe how I felt. I didn’t fully understand the diagnosis, but was so glad that we finally had some answers.

We then decided that we needed to rename our beautiful baby girl. We marched back into the ward and told the nurses they could write “Eliza*” on her card and that she was FEMALE.I called my sister interstate and tried to explain what CAH was in 5 seconds flat and that she now had a niece not a nephew.At 10 weeks Eliza* had genital surgery.

This was again another rollercoaster for us. It was very difficult to see our little girl recovering from surgery. Surgery of which was hard to discuss with most other parents but clearly in our minds necessary for Eliza*’s wellbeing.Eliza* is nearly 12 months old and brings so much delight and happiness to our lives, we have been extremely lucky that she has responded well to her medication and is healthy and extremely active. So far we have had only one “CAH episode” where she developed a high fever after her four monthly immunizations.

After a few nervous phone calls we triple dosed her and took her to the hospital where she was thoroughly checked and sent home a few hours later.Eliza* is all too quickly growing into a little girl now and losing those chubby baby looks…and is of course a complete Daddy’s girl!It is not without the support of our family, friends and other CAH families (found through the CAH Support Group) that we have made it to where we are today.

We do not doubt that there will be some tough times ahead…We do not doubt that Eliza* will have days when she won’t want to take her meds or cooperate with us…We do not doubt she will have to faces challenges that other kids won’t……but we have no doubts that she will be able to live a life full of incredible “ups” and of course some “downs”. Her life to live.The rollercoaster of her life has only just begun.

*Names have been changed

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