Tyler

Malonic Acidemia (MA)

Tyler was born on 7th July 2012 weighing a healthy 3.35 kilos. Tyler’s mum, Chantelle, affectionately known as Channy, had a normal pregnancy with the only complication being in the late stages of labour when she was 9.5cm’s dilated her cervix began to swell. The gynaecologist suggested a caesarean as Channy had been in labour for over 30 hours and would have been too tired to push even if the swelling went down.
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The beginning of Tyler’s diagnosis.

Tyler had always been an unsettled baby and his development and weight gain was on the low side of average. Channy had sought advice from numerous doctors and paediatricians only to be told he will be fine. On Wednesday 26th June 2013 Tyler was admitted to the children’s ward in Gladstone hospital after a week of vomiting, refusing solid foods and formula. During that week Channy had taken Tyler up to the hospital twice where he had been given a wafer to stop the nausea and to the GP twice only to be told that he had gastroenteritis, was a little dehydrated and would have a headache because of it and that he would get better.

The next morning Tyler’s condition had deteriorated a lot more and he was very lethargic and seemed to be having what looked like a fit. The paediatrician arranged for an ultra sound on his tummy for 3.30 that afternoon as she thought he had a Bowel Obstruction. Another doctor came in and as soon as he saw Tyler he said that he needed to be flown down south to Royal Children’s Hospital PICU. He was taken to ICU at Gladstone Hospital and a surgeon was put on standby to operate on what they had thought was a bowel obstruction.

After a number of hours in ICU in Gladstone, being poked and prodded The Royal Flying Doctors Service were contacted and later that night Tyler was flown the 750km to the PICU in Brisbane. Tyler was then heavily sedated and put on a breathing tube the doctors started right away trying to diagnose his condition. In one of his blood tests it showed a high acid level and that’s when the metabolic team were called in.

On Friday 28th June 2013, 24 hours after being admitted into the ICU in The Royal Children’s Hospital in Brisbane, the head of the metabolic paediatric team Dr Jim McGill called a meeting with Channy, Dean, (Channy’s partner and Tyler’s father) and those of us that had travelled to Brisbane to be with them during this very difficult time. There were 8 doctors and nurses in the room when we were told that our little Tyler has a very rare Metabolic condition called ‘Malonic Aciduria’ and his blood had been poisoned by the acid in his body.

We were also told that he may have suffered brain damage due to the swelling in his brain. By this stage Tyler was having numerous seizures; his liver was severely swollen and he also had high temperatures. The doctor said there isn’t much documented about the condition. Malonic Aciduria occurs when 2 people each have a missing gene which they pass onto their children. There is a 25% chance that any future babies that Channy & Dean have would have the same condition. On asking the doctors what the likelihood of Tyler passing the missing gene onto his children, they said “that’s if he ever has children”. We did not question this but in our own minds we questioned what that may have meant. Would he be unable to have children physically, mentally or would he maybe not even live long enough to have children.

Tyler was put onto numerous medications to help with his condition, 2 of these being L-Carnitine for the condition and Keppra for his seizures.

As the hours passed we all prayed and believed that we would see Tyler’s beautiful eyes and smile once again and that he would recognise us.

On Sunday 30th June 2013 there was a glimpse of hope when Channy & Tyler’s Aunty Shell was in the ICU with him and he opened his eyes. Shell got excited thinking that he was coming to but he started to twitch his eye and mouth and they were told he was having yet again another seizure due to the swelling in his brain. He would just stare with no recognition of his surroundings or us.
A few days after this we started noticing our old Tyler coming back as he put his dummy into his mouth himself and even turned it the right way round. We were so excited at every little improvement we saw. The following day he reached out for his little blue teddy that Dean’s parents, Dean and Janet had given him.
The doctors started feeding Tyler through a feeding tube but his little tummy couldn’t digest the formula so they put a second feeding tube into his nose through his stomach into his intestine bypassing his stomach and they changed his formula to MCT Pepdite which he seemed to be able to tolerate.

Tyler’s liver started to shrink.

On Friday 5th July 2013 Tyler smiled at his mum for the first time and started reaching out for his toys and his sook cloth. The next day he clapped to patty cake with his mum. A nurse told Dean that they’ve found 4 cases of Malonic Aciduria in Melbourne but we cannot contact them unless they gave consent to be contacted.

Sunday 7th July 2013 was Tyler’s 1st birthday. All thoughts of his planned birthday party were put to the back of our minds, we were just so grateful to have him here with us to share this day with him. Numerous tests later, Tyler began picking up and the feeding tubes and central line he had in his neck were taken out and he was transferred from The Royal Children’s Hospital in Brisbane to the Gladstone hospital. He was allowed to go home the following morning.

Tyler will live with this condition all his life and will need to be on a strict low fat diet and will take medicine 4 times a day. If he becomes unwell with vomiting or diarrhoea he will be taken straight to hospital to be put onto a sugar drip.
All this because Malonic Aciduria was not on the Newborn Screening here in Queensland Australia but is now on the list of conditions to be considered.

We do not know what the future holds for our little man but we are so grateful just to have him in our lives.

Nanny to Tyler
21months
Malonic Aciduria
Queensland, Australia

​From the Spring, 2014 OAA Newsletter