Rare Disease Day is a world-wide observance held on the last day
of February each year to raise awareness for rare disease and to
improve access to treatment and medical representation for
individuals with rare diseases and their families.
A rare disease is a disease with a prevalence of 1 in 2000
people or less affecting less than 200,000 people in the
population. There are 8000 known rare diseases, collectively
affecting up to 10% of the population or over two million people
including about 400,000 Australian children. 80% of
rare diseases have identified genetic origins whilst others are the
result of infections (bacterial or viral), allergies and
environmental causes, or are degenerative and
proliferative.
Anna Hickey is one such individual affected by a rare disease
called Gorlin Syndrome. Gorlin syndrome is an inherited
'autosomal dominant' condition, which means there is a 50% chance
that children can inherit the condition from a parent with the
condition. Gorlin syndrome is a condition that affects many
areas of the body and increases the risk of developing various
tumours. Anna says, the main issues for her has been "the
tedium of continual medical appointments; (they are) draining
physically, emotionally and financially." Another issue for
Anna is "that social engagements are planned around these
appointments and there is the temptation to withdraw from society
because of feeling conspicuous".
On a daily basis the team at the Genetic Support Network of
Victoria (GSNV), assists people with the non-clinical or 'human'
aspects of managing genetic conditions. GSNV President Moira Rayner
says, "The major focus of GSNV's work is to provide advocacy,
education and peer support for people affected by genetic
conditions. We work in partnership with the Genetic Heath
Services of Victoria and the Murdoch Childrens Research Institute
to better the lives for people affected by rare
conditions."
The public are invited to hear Moira Rayner, Anna Hickey and Tina
Costanzo speak on Friday morning March 2nd as part of a Rare
Disease Seminar hosted by the Genetic Support Network of Victoria
(GSNV), to be held at the new Royal Children's Hospital. The
GSNV will present the findings of their survey into the top five
issues for people affected by rare disease. Anna Hickey, from
the Australian Gorlin Syndrome Mutual Support Group and Tina
Costanzo from the Prader Willi Syndrome Association of Victoria
will present their own personal stories. All are invited to
stay on afterwards for morning tea.
For more information about this free seminar please go to
the Rare Disease Website at http://www.rarediseaseday.org/
or contact the GSNV on info@gsnv.org.au or phone (03)
8341 6315.