Noah was 18 months old when he experienced his first metabolic stroke. With his mum watching on, it looked exactly as she imagined a stroke would, but she never thought something so cruel would happen to her son – time and time again.
Due to the complexity and severity of Noah’s condition, it took eight years until the family were able to receive an accurate and conclusive diagnosis. Kat, Noah’s mum, compared this to being on ‘death row’.
“This beautiful little person was laughing and having lovely times in between all the darkness, and we just weren’t able to know what was going to come next,” shared Kat.
A few years into Noah’s journey, the family were introduced to a senior neurologist at The Royal Children’s Hospital (RCH), Associate Professor Andrew Kornberg. Thanks to Andrew and the advanced care they received at the RCH, Noah and his family were finally given some answers as he was finally diagnosed with a mitochondrial disease.
Currently, up to 40 per cent of mitochondrial disease cases go undiagnosed. So, although bittersweet, this prognosis gave Noah’s family an overwhelming sense of relief. Sadly, it wasn’t long until they were also overcome by fear and anxiety.
“We call the diagnosis the terrible gift because it wasn’t a gift that you would wish on anyone, but for us it was the gift of relief. To know what was happening gave us great relief, but of course, you very quickly add to that the pain and upset of what might be,” Kat shared.
Mitochondrial disease, also known as mito, is a condition whereby all the body’s cells fail to get the energy they need to work properly. This can affect the entire body, and in Noah’s case, it is causing him to have repeated and debilitating metabolic strokes.
While there are a variety of ways to manage this disease, there is currently no cure. Worst of all, Noah and his family never know what each day will bring – another debilitating metabolic stroke or even death.
“The worst thing about this condition is not knowing what’s coming next. There’s no treatment and no cure,” expressed Noah himself.
Children with mito are often not expected to live past their teenage years. So, the moment Noah turned 13 years old, the family couldn’t help but feel terrified. This was also compounded by a series of strokes that occurred right after his primary school graduation.
“Noah had back-to-back strokes last year. It started in February, and they just came one after another. Before that in December he was walking, talking, moving, then by July last year, he wasn’t – his eyes didn’t even move,” Kat shared.
In most cases, rare diseases like mito deny children of a normal, healthy life and rip them from their parents far too soon. Noah is running out of time and he, along with other children facing the same battle, is in desperate need of a cure.
Fortunately, advanced therapy treatments, such as gene therapy, can give children like Noah a fighting chance.
“Right now, we are only treating Noah’s symptoms. But, if we can treat the underlying disease, maybe fix the problem with the genes, then the mitochondria will be functioning better,” explained Andrew, Noah’s treating clinician.
Each week one baby is born in Australia with a severe form of mitochondrial disease. Currently, Noah is defying all odds. After his series of strokes of last year, he has even been able to work to regain his speech and is feeling optimistic about his future.
Innovative treatment options, like gene therapy, can change the lives of even more children just like Noah, and their families. Importantly, it is giving them hope.
“We rely on the generosity of others to give us hope. Before, there was nothing that could be done, but now, we can be hopeful, and that’s a wonderful thing,” Kat shared.
The family are incredibly grateful to the support of donors and are optimistic that this support will allow them more time together.
“Technology and treatments are constantly changing. So, what seemed impossible when I was little is now just on the horizon,” Noah concluded.
Your tax-deductible donation can help find a cure for kids like Noah. It can also ensure that the RCH has the dedicated support needed to enable access to these transformative treatment options. Please donate today and help bring hope to sick children and their families.