Each year Sydney Children’s Hospitals Network will see 2000 new patients with a rare disease. Though a rare disease is individually rare, with less than one in 2000 people having that condition, there are over 7000 rare diseases, with more being discovered each week. Of those 7000 known rare diseases, three out of four affect children and three out of 10 children who have a rare disease will not live past the age of five.   

 Dr Emma Palmer, a Clinical Geneticist at Sydney Children’s Hospital, Randwick, says that for those who have a child suspected of having a rare disease or has been diagnosed with a rare disease, it can feel like being lost in a dark forest.

“It is one thing to hear that your child has a complex and chronic condition, but what if it is a condition that you have never heard of before, that your family and your community have never heard of before, and your doctors have never heard of before. How do you know where to start? What steps do you take?”  

Rare diseases are difficult to diagnose. There is no quick route. Those affected often have a wide range of symptoms that impact multiple organ systems, resulting in multiple disabilities and for over 95 per cent, there is no cure. This means that multidisciplinary care teams are needed. But with limited information, navigating the health care system can be challenging. This can leave patients and their families feeling like they are in unchartered territory.

“These incredible children and their families need targeted and tailored care so not only can each child flourish but their whole family can too,” Dr Palmer said.

While obstacles remain, it is important for these children and their families to know that they are not alone. With significant progress made in the diagnosis and treatment of rare diseases, we have taken a positive step forward in achieving better health outcomes.

Dr Rani Sachdev, a Clinical Geneticist at Sydney Children’s Hospital, Randwick says that a lot of rare diseases have a genetic basis and to gain a better understanding, healthcare professionals have turned to genetic testing, such as exome sequencing and whole genome sequencing.

“By delving into a patient’s genetic makeup, we are able to pinpoint the specific genetic variations responsible for these conditions which not only expediates the diagnosis with greater accuracy but also the development of highly personalised and specialised treatment strategies.”

Precision medicine is a transformative leap in health care. It considers genetic factors as well as environments, and lifestyles, to individualise care to each patient based on their unique characteristics, with the potential to profoundly enhance the quality of life for those impacted by rare diseases.

Through the support of community funding and the generosity of donors, we can continue this journey. We can continue to raise awareness, advance research, and facilitate clinical trials with the purpose of not only refining the diagnostic process but also developing highly effective treatments, with greater precision.

“These children and their families inspire me every day with their bravery, resilience and incredible strength and love,” Dr Sachdev said. 

Join us to reduce the uncertainty and most importantly, bring back hope for these children and their families. 

Together we can map out a brighter future. We can find light in darkness.  

Together, with the support of Sydney Children's Hospitals Foundation's Movement of Many, we can map out a brighter future for these families. Donate today to help find light in darkness.