Think Ammonia!: Olivia’s story

Written by Emma Peterson, Olivia’s mother.

She seemed lethargic and wouldn’t open her eyes. Was that normal for a newborn?

Olivia was born a beautiful, healthy baby, weighing 8lb 4oz. She was feeding well so we took her home the following day. That evening Olivia fed on and off, she was crying a little but newborns do so we weren’t worried. We all fell asleep exhausted. The next thing I knew it was 7am and we couldn’t believe Olivia had slept through the night. She seemed lethargic and wouldn’t open her eyes. Was that normal for a newborn?

The midwife arrived for our first home visit. We needed to get food into Olivia so we took off her clothes to stimulate her. She wouldn’t feed and started trembling. The midwife told us to take her to our local hospital, Watford General. We were worried but not panicking – we thought it might be a problem with her blood sugar levels or dehydration.

My world fell apart.

In hospital I noticed Olivia’s breathing getting faster and within minutes she was whisked away to the Special Care Baby Unit – my world fell apart.

Every possible part of her body was scanned, they loaded her with antibiotics and phenobarbital (medicine to treat fits), she was ventilated, her brain activity monitored, tubes and wires were everywhere. She deteriorated quickly and became unresponsive. No-one knew what to do – all the tests were coming back fine. There was one last test to try on Olivia’s metabolism. It came back with raised ammonia – a toxic substance we usually excrete in urine. Olivia’s body didn’t seem to be doing that and the ammonia was accumulating in her blood – it was poisoning her body but no-one understood why.

The consultant mentioned Great Ormond Street Hospital (GOSH) and it hit me how serious it was.

All I could do was stroke her tiny head, willing her to live.

Oliva was rushed to GOSH by CATS (Children’s Acute Transport Service) in a little blue transport pod. When my husband and I arrived at the hospital we were taken to a quiet family room while Olivia was transferred to the Paediatric Intensive Care Unit (PICU).

I felt numb. I’d spent nine months growing my beautiful, perfect baby and then she’d been snatched away from us. She hadn’t even seen her nursery yet. She’d been born so pink and rosy but she was now so helpless, swollen up like a balloon and covered in tubes. All I could do was stroke her tiny head, willing her to live.

“We’re going to look after Olivia. She’s one of our special children now.”

The team worked tirelessly through the night to get a diagnosis and the following day Olivia’s consultant, Stephanie Grunewald, explained Olivia had a rare urea cycle disorder: argininosuccinic aciduria.

When the body digests protein, it’s broken down into amino acids. Some of these are converted into a toxic substance called ammonia, which is removed through urine. This is usually done by the urea cycle but because of an enzyme deficiency, Olivia wasn’t able to urinate out the ammonia. Instead it accumulated in her bloodstream and this was making her very poorly, and causing brain damage. The team had to filter her blood to get the ammonia levels down quickly. They then needed to find the right balance of milk (protein) feeds and medication to keep her ammonia levels under control.

We’d been told to prepare for the worst so at that point, we were grateful for anything. We were relieved to finally understand what was wrong and find out there were children living with the condition.

I will never forget the comfort it gave me when Stephanie assured us, “We’re going to look after Olivia. She’s one of our special children now.”

Each day Olivia got a tiny bit better and after 10 days in hospital, I held her again. It was incredible.

I stood by Olivia’s side in PICU for virtually 24 hours a day, watching her breathe and stroking her head. My husband and I stayed in the GOSH parent hotel so we were never more than five minutes away.

The nurse wanted me to be involved in Olivia’s care, like change nappies, but I was too nervous to do anything other than wash her face. There didn’t seem to be an inch of skin without a cannula or tube.

My sister brought in a little pink rabbit and the nurse told me it’d be helpful to prop up the tubes and wires. It was comforting to see Olivia snuggled up with her fluffy friend and her own blanket. She started to look like my baby.

Each day Olivia got a tiny bit better and after 10 days in hospital, I held her again. It was incredible.

The thought of being alone was frightening.

In PICU the babies just wear nappies. One day our nurse asked me to bring in some clothes for Olivia. I sobbed because this meant she was going to move to a ward. I remember how wonderful it was seeing her wearing tiny socks. We were one step closer to going home.

After a couple of weeks on Rainforest Ward, when Olivia was about six-weeks old, the time came to leave GOSH. I knew the hospital like the back of my hand. I was so comfortable there and familiar with the constant beeping of the machines. The thought of being alone was frightening.

In the first few days GOSH called me regularly and I knew to get in touch if anything unusual happened, or if Olivia didn’t drink her milk. But everything was fine.

I bought an Angelcare monitor, which makes little beeps when Olivia breathes. An alarm goes off if it doesn’t detect movement – I still use it, even for naps. The beeping is strangely comforting.

It took me a few months to get used to managing Olivia’s care.

It took me a few months to get used to managing Olivia’s care. She had an allocated amount of milk she needed to drink and two medicines, Arginine and Sodium Benzoate, to take four times a day orally (using a syringe). We visited the clinical team and dietitian at GOSH every couple of months and as Olivia grew, the amounts were adjusted.

Now that Olivia is on solids I have to weigh her food and monitor everything she eats to make sure she gets the right amount of protein (currently 13g a day). Luckily she is a very sweet, gentle, co-operative little girl who enjoys her food, which makes it much easier.

We don’t tend to eat out at restaurants because the noise can be distracting, and Olivia can’t have anything on the kid’s menu. Birthday parties can be tricky too – but we just eat before we go.

I try to keep meal times as stress free as possible – I know if I get stressed, Olivia will too. I still spoon feed her or give her finger foods piece by piece because I can’t risk losing track of what she’s eaten if it gets messy. Mealtimes can take a long time but, for us, it’s normal.

Olivia’s absolutely brilliant about taking her medication – it tastes awful but she is used to it. She has a few sucks on her dummy afterwards for comfort. It feels normal to carry syringes with carefully measured medication, and to never leave the house without snacks, glucose powder or her green card, which gives her immediate access at A&E.

Olivia will be on medication and a restricted diet for the rest of her life. She still visits GOSH every four months for blood tests and to see the doctors and dietician.

Olivia has exceeded all expectations and proved the doctors wrong.

Olivia has exceeded all expectations and proved the doctors wrong. She’s an incredibly happy girl who loves online gaming, her friends, playing with her dolls and swimming. Due to high ammonia at birth she’s been left with Learning Disabilities, Autism and Epilepsy. She attends a special school but doesn’t let her Urea Cycle Disorder or disabilities hold her back.

Olivia doesn’t understand that she’s disabled and has a metabolic condition, but if she did I know she would want to share her story and help other families

Are you interested in supporting the "Think Ammonia!" campaign?

Reach out to us to see how you can get involved via jonathan@metabolicsupportuk.org

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