Rare Disease Day 2017 is today.
The main objective of today is raise awareness and raise funds to support those living with a rare disease. A rare disease is one that affects less than 5 people in 10,000 of the general population. So, I guess we can say that at the moment, Freddie is pretty rare. As more results come in via the DDD study and the 100,000 Genome project, he will most likely become less rare. At least, I hope so. It can be very isolating not knowing anyone else in your situation, although that is the brilliance of SWAN UK. SWAN UK brings together families who’s children have no diagnosis to explain their difficulties. For 4 years, this was our situation. However, as Freddie’s condition remains on the rare side, we are still supported by SWAN UK. This initiative changed my life.
Roughly 1 in 17 people will be affected by a rare disease at some point in their life, thats 3.5 million people in the UK alone.
The thing with being rare is that there isn’t much known about your condition and as such there is no prognosis for many. For us, the negative of this is that we have no idea if Freddie’s condition could be life limiting or at some point become regressive. The positive side of this is that we can believe anything is possible and potential can be high. I always try to focus on the latter. The first option comes with too much fear.
I volunteer for SWAN UK as a Parent Representative to help raise awareness of undiagnosed and rare conditions. Freddie only received a diagnosis aged 4, however I know many children who remain undiagnosed well into their teens and beyond. 6,000 children are born each year with an undiagnosed condition likely to be genetic (either hereditary or De Novo) and 50% are likely to remain undiagnosed. Like SWAN UK, RARE DISEASE UK is an initiative of Genetic Alliance UK and a national campaign supporting those with rare diseases and all who support them.
Please do read a bit more on rare diseases and share the information, especially if you know someone who could benefit from the support.