What’s Rare Disease Day
28th February every year is Rare Disease Day. To quote the organiser ‘There is no cure for the majority of rare diseases and many go undiagnosed’’. Rare Disease Day aims to address this by raising the profile of rare diseases amongst the general public, researchers and policy makers
Is Gorlin Syndrome a Rare Disease?
Yes! The official answer is that a Rare Disease is a disease which affects less than 1:5000 people: Gorlin Syndrome affects 1:100,000 people.
But we also know from our day to day experience that Gorlin Syndrome is rare. Think of your colleague’s blank faces when you explain why you have to take a day off for you child’s appointments. Or your GP’s slightly embarrassed look when you’re trying to explain why you need to see a dermatologist urgently. It’s because Gorlin Syndrome is a rare disease.
Is there any hope for getting Gorlin Syndrome a higher profile?
Yes! There is a lot to be hopeful about. Here are four examples of getting ourselves heard
- Gorlin Syndrome has been recognised as a disease entity for the first time and the World Health Organisation now has ways of counting people with Gorlin Syndrome and seeing how the condition affects us.
- Health care providers are recognising that people with Gorlin Syndrome have unmet needs. For example, the NHS in Manchester is developing pathways for different types of cancer. The cancer bosses in Manchester have, for the first time, invited a person with Gorlin Syndrome to share their experiences. The British Association of Dermatologists has also invited a person with Gorlin Syndrome to help develop their national guidelines.
- ‘Basic scientists’ are beginning to take an interest in us and our genes. Basic scientists are the people doing test tube experiment on how all the molecules in the body function. Their work does not necessarily lead directly to treatments, but in the near future the research can benefit all of us in unexpected ways. ‘Basic Scientists’ are also responsible for naming ‘the hedgehog pathway’ and smoothened molecule’!
- Most promisingly, pharmaceutical companies are making real progress doing clinical trials in collaboration with People Living With Gorlin Syndrome. We aim to establish real collaboration during which People Living With Gorlin Syndrome participate in the design of the trials, by sharing information and experience, not just by allowing themselves to be guinea pigs. You can watch more about how Gorlin Syndrome Group has collaborated with LEO Pharma here.
What can I do to raise awareness?
In the past year, some brave souls have gone on local radio or got their stories into the press. But for most of us, it’s not easy to start explaining to people about the condition we have. It’s often too personal and too complicated.
We’d love to hear your experiences of a Person With Gorlin Syndrome during Rare Disease Day