Sunday, February 28, 2010

Rare Disease Day 2010 Part 1 - Pontocerebellar Hypoplasia Type 1 and the Joshua Deeth Foundation

Today is Rare Disease Day, a day to raise awareness of uncommon diseases and to ensure that there is enough knowledge of and support for them within healthcare systems across the world.

This year's event has 4 main messages:

* Rare disease research should rightly be considered an important area of research
* Rare disease research needs to be better funded
* It is important for patients and researchers to work in partnership as people living with rare diseases have experience and knowledge crucial to the research agenda
* Development of treatments and therapies for rare diseases remains insufficient

Late last year I wrote about how my friends Nicola and Stephen had lost their lovely baby son Joshua to a very rare brain disease, Pontocerebellar Hypoplasia Type 1. I told how they had set up The Joshua Deeth Foundation in his memory with the aim of supporting other parents and funding research into the condition.

Since then, they've organised a ceilidh to launch the fundraising effort which will take place in Crieff on May 7th and which sold out in 4 days. Other events are planned over the next few months.

Unfortunately this condition is invariably fatal at present, but in the future, if it's researched, it may be possible to cure, prevent or slow it down.

Nicola and Stephen also want to find some way of supporting other parents whose babies are born with this or similar diseases. That sort of contact, the information you can get from someone who's been through the same circumstances as you have can be invaluable.

It's hard enough when your child is diagnosed with any illness - but when it's one that nobody has heard off, it makes life even more difficult.

There's an event at the Scottish Parliament on Tuesday, 2nd March to mark Rare Disease Day, which Christine Grahame MSP is hosting. I've contacted some MSPs on Nicola and Stephen's behalf and with their blessing to ask them to see if they make the specialists and charities who will be there aware of Joshua's foundation and Pontocerebellar Hypoplasia Type 1. I hope that that will spark some useful and mutual help for them.

No comments:


Related Posts with Thumbnails