Ivani’s genetic disease is worsening as she ages. Her mother hopes Australia’s new biobank will help
Bindu Shree remembers her daughter Ivani had “such a nice plump face as a baby”, but now she sees gravity pulling down her four-year-old’s cheeks as the muscles in her face become weaker.
When Ivani was diagnosed with a genetic muscle disease at four months, Shree’s first response was to ask the doctors: “What’s the treatment? What can we do to help her?”
She wasn’t expecting the answer to be that she would witness her daughter’s condition get worse as she aged, with no treatment available.
The worst part of the condition, Shree said, was not knowing her daughter’s life expectancy.
However, Shree is hopeful that in the future the quality of life and the longevity of children like Ivani will improve thanks to an Australian-first biobank that aims to develop new treatments for muscular dystrophy.
The National Muscle Disease Biodatabank, housed at the Murdoch Children’s Research Institute, will store blood test and skin biopsy samples from children across Australia with genetic muscle diseases.
Dr Peter Houweling, from the Murdoch Children’s Research Institute, said the biobank would be a “precious resource” for researchers like him. Through studying the genes, cells and proteins in these patient samples, the project aims to develop new and better treatments and fast-track discoveries into clinical trials.
Sign up for Guardian Australia’s free morning and afternoon email newsletters for your daily news roundup
Each year, 30 babies are diagnosed in Australia with a genetic muscle disease, which occurs when there’s a mistake in their genes that goes on to cause problems with their muscles.
Prof Peter Currie, from the Australian Regenerative Medicine Institute at Monash University, said genetic muscle disorders had one of the highest disease burdens – greater than that of cancer and multiple sclerosis and greater per case than any other disease. Disease burden measures the effect of living with illness and injury and dying prematurely.
“Congenital muscle diseases are also arguably the most individually impactful, with many patients having a poor prognosis, requiring lifelong supportive care including mobility and respiratory support and in severe cases are inevitably fatal.”
Currie said a lack of effective treatments meant the financial cost per year for genetic therapies and loss of productivity for those with muscular dystrophy was $435m.
Shree said when it came to caring for Ivani, “nothing is easy” and it was essentially a 24-hour task. Ivani cannot walk, and muscle weakness affects “everything in her body”, which means she requires help holding up a water bottle to drink, toileting and showering, and she needs to be turned over during the night.
There is also always the potential for more serious health risks. Because her swallowing is weak she is always a choke hazard and illnesses such as the common cold often require her to be admitted to hospital.
Prof Catriona McLean at Alfred Health said a major hurdle to advancing outcomes was understanding the underlying molecular basis of the diseases, coupled with a need for models to develop and test therapies for patients.
The biobank is a collaboration between clinicians at different hospitals around Australia and includes paediatric neurologists, pathologists, scientists and patients.
“This biobank gives me hope for my daughter, and if not, hopefully for another family in the future,” Shree said.
“I wish one day that no other parent has to hear their child has muscular dystrophy and watch as their condition keeps getting worse as they age with no treatment available.”