This year, famous and funny people are coming together to help raise awareness of this amazing program.
Helping to solve the most challenging medical mysteries for children and young adults.
When you visit your doctor, you hope to be able to find an answer, a diagnosis. An answer that helps doctors guide your treatment and reduces uncertainty for you and your family.
But for too many of our children and young adults, a diagnosis comes late or not at all. This is often because the disease is rarely seen, or perhaps it has not even been named. Many of these ‘rare diseases’ occur in the population at very low rates, but cumulatively rare diseases are common.
There are many expert doctors doing a fantastic job in diagnosing and managing the children and young adults they see. Increasingly, there are new approaches that improve the chance of reaching a diagnosis.
Project Y supports these new approaches, one of which is the Undiagnosed Diseases Program (UDP), WA. Established in 2016, the UDP incorporates a team of doctors from a broad range of specialties working together in partnership with researchers.
The program sees one child (under the age of 16) and one young adult (aged 16-25 years) per month.
- 6 months of age to 25 years old
- Chronic, complex and multisystem diseases
- Multiple specialist assessments and frequent hospital admissions
- Referred by specialist doctors working with Princess Margaret Hospital/ Perth Children’s Hospital, King Edward Memorial Hospital and Sir Charles Gairdner Hospitals (i.e. referrals from other hospitals and/or specialists are not currently accepted).
Further information on referral criteria can be found here.
Rare and everywhere.
Chances are, you know a child who is living with a rare disease, perhaps even an undiagnosed disease.
It is estimated that more than 60,000 children in Western Australia are living with a rare disease.
Most rare diseases are genetic. This means there is often no cure yet. However rapid advances in genomic technologies are increasing the chance of finding a diagnosis as well as substantially improving the medical community’s understanding of how these conditions can best be managed.
Many rare diseases also affect multiple parts of the body, meaning patients often have numerous specialists involved in their care. Even when a rare condition has a name, the nature of modern health systems can make it difficult for these different areas to speak to one another.
The UDP brings together clinical and research experts locally and from across the world, in an innovative cross-disciplinary approach. This group of doctors aims to obtain diagnoses for children with severe diseases that have escaped diagnosis, despite intensive efforts. The key to the approach is the combined expertise of a “dream team” of doctors that is applied to one patient at a time, and at the same time and place.
Lily was the first participant in the Undiagnosed Diseases Program.
Lily was 7 years old when she was found to have a rare genetic disease by the Undiagnosed Diseases Program. Lily’s condition affects just one person in a million.
“Lily has undergone more tests and has spent more time in hospital in her short life than many adults would in a lifetime. The diagnosis means she will no longer have to undergo further costly and invasive tests to determine the cause of her condition,” Dr Baynam, UDP Program Director said.
Whilst there is no cure for her disorder, the diagnosis provided a clearer pathway for the management of her condition for her and her family.
The diagnosis means less time in hospital for Lily so she and her family have more time to spend enjoying life. It also means connection to a community with whom to share experiences, clarity for other family members, and further opportunities to work towards a cure.