Our son’s life-long diagnosis – Rowan’s story

In this blog Rowan talks about what it was like to be transferred to a different neonatal unit and learning to live with her baby's life-long condition - congenital adrenal hyperplasia (CAH).

I was very closely monitored throughout my pregnancy because I suffer with a bowel condition. At 34 weeks, a growth scan revealed that our son’s fluid had halved. At the following CTG appointment, my son’s fluids had halved again so the decision was made to induce me at 37 weeks.

At my next appointment however, my blood pressure was in the 170s and there was blood and protein in my urine. This meant only one thing: pre-eclampsia. At 35+6 weeks, I was admitted to hospital and my condition only worsened in the 24 hours that followed. My kidney function was failing so I was catheterised, put on a drip and given steroid injections for my baby’s lungs. There was nothing else they could do – the baby would have to be delivered and delivered quickly.

On the 36+1 week of my pregnancy, our gorgeous 5lb 12oz Oliver was born. Initially, we were in a room together but soon it was apparent there was a problem. Oliver was unable to suckle, had a blood sugar level of 1.9 and couldn’t regulate his temperature. Four or five hours after he was born, Oliver was taken up to the special care baby unit (SCBU).

Oliver was given my breast milk through an NG tube at first. Suddenly, on day four, he managed to latch on and start feeding. I was delighted. Despite this sudden improvement, Oliver continued to lose weight. I blamed myself, thinking there was something wrong with my milk, but even with top ups of formula or breast milk fortifier nothing changed.

Despite Oliver’s weight loss, the doctors weren’t too worried because he always seemed so well and alert to what was going on around him.

Rowan 3

On day 11, Oliver had dropped down to 4lb 13oz. I knew there was something very wrong. My husband Chris and I alerted the nurses and a blood test was done. When the test results came in things changed incredibly fast.

Thus began the worst day of my life. Honestly? I still get upset thinking about that day in full detail, knowing how close we came to going home without a child.

After the first blood tests came back, Oliver was quickly placed into a hot cot and onto a heart monitor. We were told that his sodium was low and potassium was high. More tests would need to be conducted to find out what exactly was happening but for now, Oliver would be given sodium supplements through an NG tube.

Chris went home at 9.00pm and Oliver’s condition began to deteriorate further. One drip was put up, then two… three. Suddenly, Oliver was in an incubator with three different cannulas, attached to blood pressure and heart monitors and an NG tube.

At 10.00pm I was told Oliver would need to be transferred so I immediately called my husband who came right back to the hospital.

We stood there helplessly watching the horrendous scene in front of us. The fact that we could tell how worried the staff were made us realise just how sick our son was and made everything feel incredibly terrifying and real.

We were taken aside and told Oliver was in a life threatening condition. The staff were coordinating with specialists in Edinburgh and the emergency neonatal transfer team were on their way with medication to stabilise Oliver before rushing him to the NICU. We were then dealt the devastating blow that we could lose our baby.

When we were told that the next 24 hours were critical, we just held each other and put our hands on the incubator. It was as if someone had someone had reached into my chest and taken out my heart.

I went in the ambulance with Oliver and Chris followed on behind in his dad’s car with all the bags. Oliver was placed into a travel intensive care incubator which looked like a space ship and still upsets me if I see one. I couldn’t take my eyes off Oliver or the numbers on the monitor for the whole of the journey. I felt alone and terrified but Chris kept sending me photos of the ambulance to show he was right there with us and we were going to be ok.

The ambulance got us to Edinburgh very quickly. When we arrived, a team of consultants, doctors and nurses worked on Oliver for hours. We just stood in the NICU staring until a nurse told us she’d got us a room and we should try and sleep because it was now 4.00am. Chris and I looked at her and said, “We’ve been told we might lose him, we can’t leave him.”

The nurse very gently told us that there would be a long wait and we probably wouldn’t want to see everything that was happening. We went away but came back at 8.00am after the handover.

When I looked at Oliver for the first time since his transfer, I saw how thin and dehydrated he looked because of his sodium imbalance. His skin was wrinkled, his cheeks and eye sockets were sunken in and his shoulders and ribs protruded. It was horrendous and makes me cry when I think about it. We couldn’t bear to take any photos of him until he was better.

At midday, one of the specialists who had saved Oliver’s life told us he was out of the woods. We were incredibly relieved and a couple of days later the doctors were able to give us a diagnosis.

We sat down with the specialist who told us that our baby had a rare, life-threatening condition called congenital adrenal hyperplasia (CAH). This condition means that Oliver’s adrenal glands do not work properly and he doesn’t produce cortisol – the stress hormone crucial to keeping us alive. The condition also means that he loses all of his sodium and retains potassium which is extremely dangerous. We were told there is no cure and he would need to be on medication for the rest of his life to manage it.

Rowan 4

As we sat there listening to the diagnosis, I felt a mix of emotions. On the one hand, I was relieved that they had discovered what was wrong and that they seemed positive that they knew exactly the course of treatment that was needed. The actual diagnosis however was a huge blow to the gut. Knowing it is life-long and life-threatening was exceptionally hard to take in.

In order to understand CAH, we had to go away and do some research. Luckily, the hospital then introduced us to the endocrinologist who talked us through everything – she even drew lots of diagrams to make things clearer for us. We found out that she had been on call the night that Oliver was transferred and had communicated over the phone with the team at St John’s about what to do. She had also been a part of the team when he arrived at the NICU. She is truly amazing and saved our son’s life. She is still our consultant now and we are so lucky to have her.

Oliver spent a total of four and a half weeks in neonatal care before coming home.

Life with CAH was difficult to adapt to at first. On the whole, friends and family have been massively supportive although not many people are able to babysit for us as we need to train them in his medication, and his emergency injection, and also they must feel comfortable with it all. We have to be on the ball with spotting any sign of illness. We have to know when to double or triple his hydrocortisone accordingly. If he vomits more than three times it’s straight to the hospital; if he is vomiting continuously it’s an emergency injection in the thigh and a 999 call, likewise with any serious injury. Getting used to giving medication round the clock was hard as it's through the night too but we are used to it now.

CAH affects Oliver’s day-to-day life and will continue to do so. When we are out, we have to stop whatever we are doing to give him his meds. He has five doses of medication a day, so it is usually impossible to avoid having to give them when we are out. We’ve had to give Oliver his medication in restaurants, hospital waiting rooms, on trains, soft play, etc We have had a few funny looks and stares and if people are really that curious I’d rather they just ask us what is going on than stare or whisper.

We always have to carry Oliver’s emergency kit and medical alert band especially as he is now 15 months old and into everything. When he goes to nursery and school, the community nurse will have to go in and educate the teachers on how to give the injection if he has an accident.

It terrifies me all the time if I think about him getting into a fight or being mugged when he is older because how would he get his injection in time? My mind races with it all but luckily Chris is really laid back and keeps me calm.

Rowan 2

To other parents who have just been dealt the news that their baby has a life-long condition, please remember that you aren’t to blame. Even if your baby has a genetic condition like CAH, it isn’t your fault you carry a faulty gene. With CAH, both parents must carry the gene to pass it on to their baby but there is no way we could have known that. We spent a lot of time blaming ourselves but we can’t change it now and we can only do our best to look after him and keep him safe.

I’d also tell other parents of children with life-long conditions that it is perfectly acceptable to cry – in fact – it’s essential! You must let your stored up emotions out otherwise they’ll eat away at you and make things worse. It is ok if you feel scared – of course you are scared, this is your own baby that you made! It is terrifying to face the uncertainty of a life-long illness but just remember that your baby needs you.

Never be ashamed of your child’s condition – talk about it with the people you know and don’t hide the fact that your child is a true hero.

If you have been affected by any of the issues mentioned in this post and would like support, you can call our helpline on 0808 801 0322 or view our online support pages.

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