Living with argininosuccinic aciduria
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.
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.
Transfer to GOSH
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.
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.”
First weeks in hospital
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.
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.
Medication and special diet
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.
Staying germ free
I don’t want Olivia to pick up germs so I’m selective about the baby groups we go to and try not to use public baby changing facilities. I have to be very protective because if Olivia gets a vomiting or diarrhoea bug she could be hospitalised.
I have an emergency plan to follow if Olivia gets sick. We immediately call GOSH, she has a glucose drink and if she can’t keep food down, then she goes to hospital to have an IV drip. We cannot risk her ammonia levels rising - it could cause further brain damage.
We don’t know the degree of brain damage Olivia has – time will tell and the doctors carefully monitor her reaching developmental milestones. So far, she’s doing really well. In fact, today, aged 17 months, she took her first unaided steps. It was amazing! Silly little milestones mean the world to us, they are like little miracles.
GOSH put us in touch with other families with Argininosuccinic Aciduria and it’s been wonderful to get their advice and support - and see their children growing up, living normal, happy lives and going to school.
It was only about 30 years ago that doctors fully understood the enzyme deficiency and genetics of Argininosuccinic Aciduria. And only, since then, that it’s become a recognised condition and children have been treated. It is a very rare condition, which means we still need to learn more about the condition, including its life expectancy, which is very difficult.
I don’t feel sad about Olivia’s condition, I feel extraordinarily lucky and grateful. Without GOSH, we wouldn’t have a daughter. Olivia is safe now. I can get in touch with GOSH any time of the day or night.
I want my story to raise awareness of this rare condition. We were lucky - Olivia arrived at GOSH within 30 minutes and was diagnosed and treated before it was too late. If we can help another family save their baby, it would mean the world to us.
Please contact Metabolic Support UK for help and advice if you are affected by Inherited Metabolic Disorders.