Updated: Oct 22, 2019
by Georgia Hay and Gareth Baynam
Jokes often give you a sense of unbearable suspense before the punch line. You’ll want to know the answer, but you’ll have to wait. Sounds tough, doesn’t it? Now, imagine how that suspense would feel every minute of every day for families living with undiagnosed diseases.
Lily has a rare disease. Since birth, she had been experiencing severe feeding issues, poor growth, and problems with multiple organs in her body. At just seven years old, Lily had attended 50 inpatient and 250 outpatient hospital visits, including 14 general anaesthetics. Lily was suffering from a rare, multi-systemic, potentially chronically-debilitating and life-threatening disease – but medical experts all over the world could not figure out which one. Her family was in a state of limbo, experiencing extreme uncertainty, anxiety, and isolation.
Fortunately, Lily was the first patient in the Western Australian Undiagnosed Diseases Program (UDP-WA) – also known as Project Y. The UDP-WA team quickly identified a definitive diagnosis of a condition that has a prevalence of about one in 1 million. Lily’s family now have an answer – an explanation for years of illness and tests – and they are no longer alone; instead they are connected to families all over the world whose child has the same diagnosis. They can see a future for Lily.
Approximately 350 million people worldwide are affected by a rare disease, 2 million of whom live in Australia.
The financial, physical, and emotional impact of what is often termed the ‘diagnostic odyssey’ on the lives of people with rare diseases, and their families, is tremendous. In Australia, approximately 30% of patients with rare diseases wait more than five years to reach a diagnosis (and in 30% of cases, it takes from 5 to upwards of 20 years), 30% of patients see more than six specialists, and 50% of patients receive at least one incorrect diagnosis (Molster et al., 2016). The complex, multi-systemic nature of rare diseases also creates a disproportionately large impact on the Australian public health system: the 2% of the Western Australian population who have a rare disease account for 10.5% of WA hospital inpatient expenditure (Walker et al., 2017) – and this is likely an underestimate.
The UDP-WA, supported by the WA Health Off ice of Population Health Genomics, and directed by Doctor Gareth Baynam, is an Australian-first in genetics and in interdisciplinary collaboration, pioneering a new approach to healthcare that empowers clinicians to thrive in the face of clinical complexity, and that gives patients and their families much needed answers – irrespective of income, geography or ethnicity. The UDP-WA pools the clinical expertise and decision-making skills of interdisciplinary clinicians from across WA and utilises cutting-edge technology – and it has achieved unprecedented success.
However, in the words of one of the clinicians, “Why is it that these children have seen so many other specialists, but only here do they receive a diagnosis?” A team of CTWD researchers are currently collecting data to understand the individual, team, organisational, and national-level factors that contribute to the success of the UDP-WA, with a vision to enhance the multi-level systems and protocols that will support the long-term integration of interdisciplinary clinical expertise within the program.
When it comes to making a difference, every little helps. By donating to Project Y, you’ll provide much-needed funding towards training the next generation of doctors and improving the care of children with undiagnosed diseases.
To see jokes from world-leading comedians supporting Project, make a donation to help children and youth living with rare and undiagnosed diseases, or to find out more about the UDP-WA and the global Undiagnosed Diseases movement, please go to thesuspenseiskillingme.org, or get in touch with Georgia or Florian.