Finding cures for children's genetic diseases

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Research could give our family more time

MJ has spent more than 400 days in hospital, but her family is grateful she's survived 10 years more than the six months doctors originally told them to expect.

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My name is Jessica. I’m a supporter of Children’s Medical Research Institute, and I want to tell you about my daughter Mollyjane, or ‘MJ’ as we call her. In the midst of the life-changing event that is the COVID-19 pandemic, more than most, I understand how difficult things are for everyone in Australia and around the world – with lives upturned and filled with uncertainty, while anxiously waiting for researchers to develop effective treatments and a vaccine. Unfortunately, for our family, this feeling of anxiety and uncertainty is all too familiar – it’s our "normal”.

I’ve lived with this kind of anxiety for 10 years, staying just one step ahead of my daughter’s health problems every day – just to keep her alive.

Mollyjane is my only child. Soon after giving birth, when she was just six hours old, MJ became restless and cold. At three days old, MJ went into full metabolic crisis – her blood sugar levels were dangerously low and toxic substances had built up in her blood. She had a cardiac arrest. She was put on life support and suffered significant brain damage.

We learned she has CACT deficiency, a genetic disease which means MJ’s body can’t transport certain fats into cells, which are needed to generate energy. It affects every organ in her body. It’s life-threatening—and there is no treatment. 

Doctors told us she had maybe six months to live. At the time, all they knew was babies with this condition often die of sudden cardiac arrest. Their exact words were “Take her home and love her.”

Once I got home, I thought, I can't stop. I can't stop hoping.

For me it has been non-stop every day as a mother and nurse to stay on top of her disease and keep her alive. MJ is on a strict special diet and needs to be fed every few hours, because fasting can put her body into life-threatening metabolic crisis. It means waking through the night to feed her, and one of my biggest fears is losing my baby girl if myself or my husband Joe was to sleep through our alarm.

But as MJ grew, so did our hope. Research advances in gene therapy have begun to offer possibilities for us where previously there were none.

The scientists at Children’s Medical Research Institute share our passion and are working hard to develop gene therapies to treat and even cure life-threatening genetic diseases like MJ’s.

If we could invest in gene therapy now, it is an investment in generations of children. 

I wish every parent living with a child with a genetic disease could go behind the scenes to Children’s Medical Research Institute, as we have. They’d see there are people in the labs fighting for your children.

Sometimes you get so lost when you're spending weeks and months in hospital. You feel like you're so alone. But with CMRI, we're not alone. They will never stop until a cure is found. Whether it be in MJ’s lifetime or my lifetime. We can’t stop.

I urge you to please support research at CMRI for the thousands of kids like MJ with genetic diseases—and for their families.

Please support CMRI’s vital research into gene therapy to find cures for children like MJ. Donate today and take advantage of a tax-deductible donation before 30 June.