Rare Disease Day House of Commons 28th February 2025

There was a strong turnout for our Ciliopathy Community at Genetic Alliance's Afternoon Tea at the House of Commons to celebrate Rare Disease Day. Representatives from ASUK, PCD Support, Cure Usher and Retina UK were there with some of our trustees, Kerry Leeson-Beevers and Elizabeth Forsythe.

Elizabeth summed up the afternoon as follows:-

It was great to see so many familiar faces and meet lots of new people. The highlights were:-

1.    Join up to deliver better care and treatments- So many fantastic initiatives for new registries, new ways of approaching therapies for rare diseases. So much enthusiasm for joining up, which should be easy to do given we have a national health service. However, there are challenges to overcome in a health care service that was not designed with a focus on rare diseases.

2.    Build trust- As clinicians we don’t get to spend as much time as we would like to with our patients. Likewise, our patients with rare diseases often don’t get an opportunity to build trust with us- it can be scary to take part in new research, join a trial or try a new treatment. In a stretched health service where there isn’t a specialist clinic for every rare disease – how can we achieve this?

3.  ‘Crack on’- We have the expertise, skills and technology to develop new treatments for people living with rare diseases. Let’s get on and deliver.