Did you know that while rare diseases individually affect fewer than 1 in 2,000 births, collectively they are quite common? Across the Melbourne Children’s campus alone, over 5,000 patients are diagnosed with rare diseases annually. Nationally, more than 15,000 Australian children born each year face shortened lifespans or disabilities due to rare diseases, which are primarily genetic.
These conditions account for 35 per cent of child deaths before the age of one and up to 20 per cent of paediatric hospital admissions worldwide. Unfortunately, despite genomic testing availability, most children with rare diseases remain undiagnosed, receiving limited interventions.
By utilising the research and clinical expertise at the Murdoch Children’s Research Institute and Victorian Clinical Genetics Services, the RDNow program is bridging this gap by creating a system across the Melbourne Children’s campus that caters to patients with rare diseases.
Patients at the RCH who have undergone genomic testing but remain undiagnosed are eligible for involvement with RDNow. Eligible families or patients can contact their RCH clinician, geneticist or genetic counsellor to discuss potential involvement with the program.
By providing eligibility criteria and a clear referral process, the program ensures that those who stand to benefit most can access the specialised care, research and support it offers.
Sue White, a clinical geneticist and national leader in clinical genomics implementation, plays a significant role in this initiative.
“The RDNow program has given RCH patients with undiagnosed rare diseases the best chance of receiving a diagnosis, by making available new technologies families can’t otherwise access. This puts them in the optimal position to access the latest clinical trials and treatments. Without our program, hundreds of children on this campus would not have had equitable access to the best possible options for their future care and management,” said Sue.
RDNow is pioneering the integration of genomics and personalised care, offering new possibilities for diagnosis and treatment for these young patients and their families.
“Sometimes the tests accessed through RDNow have allowed access to new treatments. Other times, medical treatments are not available for the condition diagnosed, but a diagnosis can put a stop to further investigations and assessments, interventions which take time for families, can be painful for the patient, and cost money and resources for the health system.”
“Parents who might be considering having more children gain access to accurate reproductive advice and choices. For families whose child attains a rare disease diagnosis, they can link with other families with the same rare condition via support groups, lessening isolation.
“Finally, for some families, finding a child’s diagnosis through RDNow has enabled diagnosis and improved medical care of other family members who have the same condition,” Sue said.
Looking ahead, RDNow has ambitious goals for further advancing the field of rare disease care.
“We want to continue to improve medical care for families affected by rare disease. Our motivation is our patients, and we feel passionately that children and families affected by rare diseases deserve equitable access to the best possible care. With continued support, RDNow has the skills and drive to make this happen,” said Sue.
Thanks to generous philanthropic support, Sue and the RDNow team can make a meaningful impact in advancing clinical genomics implementation and improving the lives of kids with rare diseases.
“A family involved in our program had lost their child due to a suspected mitochondrial condition, which can be severe and life limiting. This baby boy died in infancy after a severe heart muscle problem that had worsened over time. His doctors suspected a mitochondrial diagnosis, but no clear answers came from his initial tests. His family were advised they were likely to have a one in four chance of this condition happening again, and without a diagnosis, there was no way they could avoid this risk.
“Through our research program, we identified a DNA change in a different type of mitochondrial gene which gave them a very low chance of recurrence in a future pregnancy. This gave them confidence to plan future pregnancies and they have recently had a healthy baby,” recalled Sue.
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