Rachel Shields

Tell us about your experiences of rare conditions:

I have been the main carer for our youngest son born in 2004, who has a condition called Cardio Facio Cutaneous Syndrome (CFC) for short. This journey we’ve been on for the last 21 years has brought us into contact with so many specialty services that we had no idea it even existed prior to his birth. It’s a very challenging path to raising a youngster with such varied health concerns, especially when they baffle the experts. We have become our own experts in CFC syndrome.

Why did you put yourself forward to join the We R Rare Steering Group:

We as a family thought it was a fantastic initiative and a real chance to be involved in something very rare, learn more about what goes on behind the scenes from diagnosis to hundreds of appointments undertaken each year. Prior to learning about We R Rare, it seemed all a little hush hush to discuss all our feelings, or access accurate information and have the opportunity to speak candidly with other people who also have rare conditions and discuss real life experience. We all really felt that the more of us that are completely open about our own experiences, can in some small way help other families at the start of their own journey. I personally would have loved the opportunity to talk to another parent or caregiver who had already experienced life caring for a special little one and what it entails.

I also hope to widen my own knowledge and share as much about our experiences as possible to help others now and in the future.

What would you like to see changed in the future of rare conditions? 

I’d love for more people to be more aware of rare conditions as well as the number of people in the UK who are currently living with them and managing them alongside all the other issues everyone without a rare condition face day to day. I think it would be fantastic for many shared ventures between the medical, science, community health and education systems to link up more.