Imagine being told your children have a serious genetic disease, with no cure. That was the case for Sydney Mum Jess Gowans, whose son Henry, five, and daughter Rosalie, three, both have a condition called LCHAD deficiency. Here, Jess reveals her story.
How old were Henry and Rosalie when they were diagnosed with LCHADD? How does it manifest and how do you keep the disease at bay?
Henry was less than 2 days old when he became so unwell that the doctors initially assumed, he had developed sepsis, and some days later, the newborn screening test (the heel prick test) came back with red flags. Follow up testing confirmed the diagnosis of LCHAD Deficiency when he was 10 days old. Rosie was diagnosed antenatally when I was 16 weeks pregnant.
LCHAD Deficiency is a complex condition to manage as it requires both day to day care as well as longer term preventative care. LCHAD Deficiency is the lack of the enzyme that converts fat to energy, which means both Henry and Rosie are missing an energy source to fuel their bodies. Daily, both Henry and Rosie cannot fast beyond 3 hours, must have a strictly low-fat diet, and require a specialised formula. They both have feeding tubes and overnight they have a feeding pump to prevent fasting. If they expend a lot of energy, such as during exercise or illness, we must make sure they have extra energy to keep their bodies working which could be through their formula or through an IV in hospital. If they don’t have enough energy, their body turns to using muscle as an energy source, which can lead to damage in their livers, kidneys, eyes, brains and hearts. This can cause longer term issues such as heart problems, vision loss and nerve damage. The disease was only discovered in 1989 and is very rare (less than 1:250,000) and as such there is little research into prognosis and management.
How did your life change when you found about your children’s diagnosis?
Henry is my first child, and while I had the general thoughts of ‘what ifs’ during pregnancy, I didn’t think it would include being a mum to child with a chronic disease. I thought being a new mum would involve long days snuggled up in the new nursery, dreams of my baby’s future and the quiet confidence of being my child’s main carer. However, I quickly realised that for us it involved long difficult days in the hospital, confusing conversations with doctors, uncertainty about the future and slotting into a care team that went beyond myself, my husband and our family. I often asked myself how can we keep our children healthy when they have a disease that has so little known about it?
It’s made me realise the importance of health, which was something I had always taken for granted. We slowly learned to accommodate these changes into our version of normal. From there I learned to stretch my understanding of parenting. I linked into communities such as other families with children with similar conditions, places that could support me in caring for my children. I hope for my children to be included, which means that they never feel like their health holds them back from being able to have all the regular joys of childhood and hopes for their futures.
Tell us about your involvement with Jeans for Genes
I had known about Jeans for Genes Day due to fundraising days at school, but I never knew what Jeans for Genes Day stood for until I began looking online to see what was out there in terms of research and support. From there I learned about other families who were a part of the Children’s Medical Research Institute and saw how Jeans for Genes raised money to support vital research into helping children who faced the same fear and uncertainties we face.
I was asked to take part in the 2018 campaign, which showcased the amazing resilience of children and their fight to lead long and healthy lives. That really resonated with me, and Henry became one of the faces of the campaign, which saw him advocating for better futures for children with rare diseases. We saw Henry in magazines, on billboards, bus stop shelters, on the television, and I was asked to speak at a fundraising event. The campaign was far reaching, and I met three Australian families who have children with LCHAD Deficiency, which was an incredible experience for me.
How has Jeans for Genes helped your family?
The most important part of being involved in Jeans for Genes, on a personal level, is seeing my son develop confidence and pride in himself and talk about and understand his LCHAD Deficiency. He was empowered when identifying with his disease, which was the total opposite of all the times we have felt our lives taken over by appointments, admissions and restrictions. We advocated for children with LCHAD Deficiency, and our international LCHADD family got behind us with pride.
We have been approached by many families who have been keen to understand how the Children’s Medical Research Institute can help their families. To have a child with a rare and chronic disease can be isolating, frightening and powerless. To have CMRI working on better treatments and cures for rare and chronic disease provides a platform of hope for our family to keep advocating for fundraising through Jeans for Genes.
You have admirably become an advocate for genetic diseases, and even formed a support group for children who must be tube fed, as well as returning to work as a psychologist. How do you do it and what drives you?
For me it’s been about reaching out and holding onto something that can give me resilience and hope for the future. It’s to show my children that they have the gift of choice in their lives; choices that people with ‘regular’ health have. They can experience the normal things children their age can experience, and they can do it by learning about their disease and how to manage it. I never want them to feel like they’re a victim to their disease.
From there things have just flowed into the creation the tube feeding support group – we have 60 local families with tube fed loved ones who know they have somewhere they can turn to, which gives them a place to build resilience and hope. I really enjoy understanding people and hearing their stories, which has given me space to return to work. I believe in Jeans for Genes and the work CMRI does and it drives me to get out there and meet people and help them see that research can give us hope for our children’s futures.
You can donate to the campaign here.
