International Rare Disease Day

Westmead Hospital’s clinical genetics specialist Dr Michel Tchan.

February 28 is International Rare Disease Day with the aim to raise awareness in the community about rare diseases and their impact on people’s lives – diseases treated across the Western Sydney Local Health District (WSLHD).

Westmead Hospital is home to the Genetic Medicine Centre which treats patients with a wide range of rare diseases including the genetic disorder neurofibromatosis.

The Genetic Medicine Centre is also the state-wide centre for adults with Inborn Errors of Metabolism.

Westmead Hospital’s clinical genetics specialist Dr Michel Tchan said they treat hundreds of people each year with rare diseases such as Polycystic Kidney Disease, Long QT syndrome, Marfan Syndrome and Phenylketonuria.

“It’s difficult for doctors to diagnose rare diseases because they are usually low down on the differential diagnosis list, and may not be thought of. Often the symptoms mimic other more common disorders,” Dr Tchan said.

 “The most common genetic condition – neurofibromatosis – affects one in 2500 Australians. This disease has no cure and can cause bone abnormalities or learning difficulties in children and adults can develop skin growths.

 “Some patients develop a stigma because their condition can cause physical differences, or alternatively they may not have any outward signs of their condition and so their problems are underestimated.”

Dr Tchan said the team works with genetic testing which uses information from our DNA to provide clinical care. Patients can participate in clinical trials of novel and advanced therapeutics, as well as basic research into disease mechanisms and the search for new disease genes.

Genetic testing can reveal the presence of diseases which are sometimes passed through families from one generation to the next.

The Genetic Medicine Department works closely with local and international laboratories providing state-of-the-art genomic and biochemical tests.

Two million Australians are estimated to live with a rare disease¹. Rare diseases are often serious and progressive. There is no cure for many of these diseases so improving the quality of life and extending life expectancy relies on appropriate treatment and care.

For further information or to contact the Westmead Hospital Genetic Medicine Department, click here.

A National Strategic Action Plan for Rare Diseases was launched by the Australian Government in 2020. To view this plan, click here.

For information on Rare Voices Australia – peak body for Australians living with a rare disease, click here.

¹Australian Bureau of Statistics 2019. Australian Demographic Statistics, Dec 2018, cat. no. 3101.0. Canberra: ABS. Accessed from on 12 September 2019