My name is Jessica and I am a mother to two beautiful children, six-year-old Henry and four-year-old Rosie. My husband, Tim and I, are blessed with two curious, cheeky, loud and brave children.
Both Henry and Rosie have a severe and rare type of metabolic disorder called LCHADD (Long Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency). LCHADD is the lack of an enzyme that converts long chain fatty acids into energy. Fat is a major source of energy for bodies to function and missing this enzyme can create serious issues in the way the body is able to work properly.
Henry was diagnosed at just 10-days-old and it was a huge shock for us. My husband and I have no family history of metabolic disease and we had no idea what it all meant at the time. We were confused and scared because here we were, adapting to our new life with a newborn but also trying to understand what this diagnosis meant for Henry and for us. Henry also has Autism Spectrum Disorder and an inflammatory disease called eosinophilic oesophagitis (EOE). EOE causes inflammation in the throat that causes issues with swallowing and gagging. It is usually triggered by a type of food, in Henry’s case, dairy.
Rosie was diagnosed when I was 16-weeks-pregnant and she was born prematurely at 33-weeks due to me developing acute fatty liver of pregnancy which is can be linked to LCHADD. We were on the rollercoaster of emotions again with Rosie as she spent five weeks in the Neonatal Intensive Care Unit before we were able to bring her home.
I still remember the first time I sat down with Dr Kaustuv Bhattacharya and the Metabolic Team at The Children’s Hospital at Westmead, as we began to understand that our journey as parents was going to be different to what we had thought.
Thankfully, we felt supported every step of the way through our tumultuous journey. The Metabolic Team answered our calls – even in the middle of the night – and responded to all our questions. The team were always so caring, calm and in turn, made us feel we were in safe hands every step of the way.
Having two kids with Metabolic Disorders means that we have to plan each day and we need to think about where we are going. Something as simple as ducking to the shops needs to be carefully thought out to make sure we are prepared to manage their metabolic needs. This includes prescribed daily feeding plans, fasting time frames, feeding tubes, and feeding pumps, on top of our regular therapy appointments and trips to the hospital for blood tests and check-ups.
Over the years we have been involved with several teams across the hospital including the eye clinic, gastroenterology, surgical, feeding clinic, stomal therapy, immunology and the anaesthetics team. We have also met so many other inspiring families through the hospital, who we now call friends.
It has been a long journey but both Henry and Rosie are so resilient and making progress each day. Since the COVID-19 restrictions, Henry hasn’t caught the usual colds and infections at school so he is metabolically stable. He has become a lot stronger and his mobility and endurance has improved. It makes me so happy seeing him playing on the oval and running around with his friends. It’s something so simple but means the absolute world for Henry and our family.
Rosie is also metabolically stable and up until three months ago, she was 100% tube fed. Now she is able to drink her formula – a big win for us!
Being a family of The Children’s Hospital at Westmead can be tough. We have been through our hardest times in those walls, felt heartbreak, despair, confusion and loss; but we have also felt support, care and a sense of belonging.
Having two children with LCHADD has made me aware of the importance of medical teams in our lives and research for the future. Our family has signed up for City2Surf this year and we’re aiming to raise as much money as we can for the Metabolic Team who have worked so hard to keep my children healthy, happy and living their lives. I can see that it is more than a job for them and that inspires me to try and do what I can to support the hospital and in turn, support other families in their journeys too.