Niall, of Carina, has not had the easiest start in life. He is one of only 11 people in the world living with Carnitine-acylcarnitine translocase deficiency (CACT) – an extremely rare, life-threatening metabolic condition, which prevents the body from breaking down long chain fatty acids required to make energy.
This has devastating effects on the body – at just two-days old, Niall stopped breathing after a feed and his parents Maria and Lee had to perform CPR until ambulance officers arrived.
“He was rushed to the emergency department at Queensland Children’s Hospital and once stabilised, was transferred to the paediatric intensive care unit.”
After running DNA tests, the metabolic team advised Niall’s family that he had one of two rare metabolic conditions and further DNA testing would be required to confirm if it was CACT or carnitine palmitoyltransferase II (CPTII).
“Treatment would be the same for each regardless of the outcome. Around two months later it was confirmed Niall had the rarer of the two, CACT,” Maria said.
CACT usually presents in the neonatal period and most babies don’t survive this stage of life. Only about 60 cases have ever been recorded.
Niall has had numerous admissions to Queensland Children’s Hospital in his first 12 months – sometimes up to three weeks long – and regularly attends the hospital for appointments. He is on a cocktail of supplements and medications to help give him energy and prevent a number of secondary conditions that can arise from CACT.
“Because of the seriousness of Niall’s condition, family and friends have to stay away if they are sick or have been recently sick. We have to monitor Niall closely and notify the metabolic team at the first signs of illness, vomiting, diarrhoea, low energy, excessive sleepiness, fever, poor appetite, persistent muscle pain or weakness, or if he just not himself.”
Any of these symptoms can lead to metabolic acidosis – a condition that occurs when the body produces excessive quantities of acid or when the kidneys are not removing enough acid from the body.
“Because he can’t break down fat to make energy, Niall has to feed every fours hours and has to follow a very strict, low-fat diet. He requires supplements of l-carnitine and a special formula of medium chain triglycerides called monogeny.”
Despite his setbacks, Maria says Niall is always happy, and keeps the family positive.
“Niall inspires us every day to be the best possible versions of ourselves. He has taught us that no matter what life throws at you, never give up and carry on with a smile on your face just like he always does.”
Metabolic Dietary Disorders Association – www.mdda.org.au/