A Clare mother and daughter are calling for increased resources for genetic services in treating rare diseases.
A new campaign called Get Rare Aware is aimed at raising awareness of rare diseases and improving the quality of genetic services.
Ciara Micks, aged 21, was diagnosed with Ehlers Danlos Syndrome in 2015.
The rare condition, which is found in in every 2000 people in Ireland, is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.
The type of EDS that Ciara has results in hyper-mobility which often leads to chronic fatigue, insomnia, seizures and fainting.
EDS is a genetic condition and since Ciara’s diagnosis, her mother Anne has also been diagnosed.
Anne says that the lack of services for rare diseases is “not acceptable”.
Get Rare Aware is a campaign set up by Rare Diseases Ireland with the aim of improving the health system for the 300,000 people living with a rare disease in Ireland and their families.
According to Rare Diseases Ireland, Ireland only has half the staff it needs for genetic services, people are often waiting over two years for a diagnosis and the delay in diagnosis can often lead to people being treated for the wrong illness.
The campaign is calling on the government to improve the funding of genetic services to facilitate adequate staffing and cut down on the wait times which are almost 9 times longer than those in comparable health systems.
Anne Micks says that pressure must be put on local representatives for access to services to be improved.
You can listen to the interview in full below:
