It is estimated that 300,000 people in Scotland and 3.5million in the UK will be affected by rare disease at some time in their lives.
Collectively, rare diseases are not rare and together they represent a significant health burden to the NHS. Eighty per cent of rare disease is of genetic origin.
The health service was set up in 1948 when little was known about genetic disease, and in many instances the NHS is failing patients who wait sometimes five to 20 years for diagnosis.
In my case it was necessary to take a trip to the States for diagnosis, then a wait of four years for NHS-funded medication.
I am a carrier of Fragile X and am the first woman in the UK to be diagnosed with FXTAS (Fragile X Associated Tremor Ataxic Syndrome). In my family there are two children and one adult diagnosed with Fragile X Syndrome, also several carriers in several generations of this genetically-inherited learning disability disorder.
A reliable DNA blood test has been available since 1990. Since 2000 it has been recognised that 48 per cent of carrier males – in 2004, 10/14 per cent of carrier females – will go on to develop degenerative neurological symptoms similar and sometimes referred to as “a Parkinson-like condition” called FXTAS. How many medical professionals have ever heard of this condition?
Scotland has a leading research facility established two years ago at the Patrick Wild Centre within Edinburgh University which conducts clinical trials into Fragile X, autism and other neurological conditions.
I and my family have set up The Helen Maude Garfit Fund to raise awareness and financial support for this worthwhile work.
The centre works with affected families. One third of children with Fragile X also suffer from autism, another third have autism spectrum disorders, many may be diagnosed with autism, but have never been tested for Fragile X.
Health care professionals and the general public need to be aware of the difficulties for subsequent generations and the continuing burden to both health and education services if this condition continues to go unrecognised.
Children with this condition need to get early diagnosis and early intervention to enable them to have the best possible outcomes. By raising awareness it is hoped that many families will be spared the added challenges of bringing up a child or children suffering from learning disabilities.
More information can be accessed through the internet, just type in Fragile X.
Mrs A. M. Maude Brownlie