Henry and Rosalie
Henry was born at term and healthy, but at 48 hours old, he became lethargic, with rapid breathing and a low blood sugar. He was treated for suspected neonatal sepsis and released at about 10 days old.
“We got the call that he had flagged new born screening. Our Paediatrician at the time told us not to be worried, as the condition was so rare, Henry surely didn't have it,”
Henry’s mum, Jess, said.
But Henry was formally diagnosed with LCHAD within the week.
LCHAD is a condition where the body has extremely limited enzyme activity at the process of converting long chain fatty acids into energy. This means that when the body turns to breaking down and using fat for energy, it isn't able to process it. The body becomes catabolic, and muscle used as energy - including heart muscle. The condition is managed by having a very low long chain fat diet, by limiting fasting, and increasing calories in times of illness or exercise. LCHAD also has linked cardiomyopathy, retinopathy, and neuropathy. Every child with LCHAD is affected differently, some with few issues and some with many. It is a life-threatening condition.
“Henry's first year was very hard. My husband and I were in shock after his initial diagnosis. To google LCHAD deficiency was horrible. Luckily, we found an online international support group for fatty acid oxidation disorders, and they support us so much. From birth, Henry had great difficulties with feeding, which is incompatible with LCHAD deficiency. As a result, he had a type of feeding tube, called a gastrostomy tube, inserted into his tummy just before his first birthday.”
Jess was soon pregnant with a little girl, and due to Henry’s LCHAD being an autosomal recessive condition, the parents decided to have antenatal testing. They discovered their little girl also had LCHAD. Rosalie was born six weeks prematurely after Jess had rapid onset acute fatty liver of pregnancy and obstetric cholestasis resulting in her liver failing. These obstetric liver diseases are linked to mothers carrying babies with LCHAD.
After a month in NICU and special care, Rosalie came home.
“She is doing well and so far, is feeding well. She's every bit as gorgeous as Henry.”
Despite the setbacks, Jess and her husband, Tim, count themselves blessed.
“We are so lucky to have two healthy children despite their diagnosis. If our babies had been born 30 years ago, they likely would not have survived past infancy. We are lucky to have access to a medical team that do so much for our children. We have online support and are able to speak to other families with children who have LCHAD deficiency and similar conditions - and we share in the happy times and the hard times.”
Henry and Rosalie have such a rare disorder, and so their future is unknown. Jess says she’s been reassured her children should be able to lead happy lives if they continue to monitor them so closely.
“I pin my hopes on organisations, like Children's Medical Research Institute (CMRI), that push research and advance knowledge in areas that may have a follow-on effect for things that relate to my children's future, even in the obscure rarity of their condition.”
One day we will beat childhood diseases. Until then, we need your support.