“Our doctor is great but he knows nothing about my son’s condition!”

This is just one comment from a mum whose son has a very rare genetic disorder.  She’s certainly not alone in her experience of dealing with doctors and GPs.

  

The Genetic Interest Group (GIG) brings together more than 120 support organisations for rare conditions.

Each organisation is quite small and often run purely by volunteers so working together gives them more strength.

Funding from Jeans for Genes allowed GIG to carry out a series of focus groups amongst patients and families to find out if they were getting the right information, if they had to travel for specialist treatment and whether they got help outside the NHS with things like benefits.

GIG was also able to meet with health professionals who are experts in each condition.  The results of all of this research are ‘route maps’ for families living with six rare  conditions.

These guides will give them information about how best to get the help they need.  They’ll also give doctors and health professionals key information about a condition they might never have come across before.