Rare Disease Day 2022: A Review
Rare Disease Day is a globally-coordinated and patient-led initiative which aims to raise awareness of the 300 million people across the globe living with rare disease, as well as their families and carers. The movement works towards achieving equity in healthcare, social opportunities and access to treatment and therapies for those within the community.
On 28th February, events took place in over 100 countries across the world to mark the day, which included building illuminations, fundraisers, sporting events, scientific conferences, art exhibitions and many more, and to mark the day ourselves, Genomics Partnership Wales heard from one of our Sounding Board Members, Louise Wilkinson, on how rare disease has affected her family.
In 2019, Louise’s son Dafydd was diagnosed with Dopa-Responsive Dystonia, a very rare condition which affects around one in a million people worldwide. Dafydd’s condition means that his muscles don’t receive the correct signals from his brain. This leads to a delay in the development of some of his key skills including walking, eating and drinking. For Louise and her family, this has meant some big adjustments,; Louise’s husband gave up work to care for Dafydd full time, and both of them have had to become experts in a condition that they previously knew nothing about.
The family have found an online support community via Facebook, where they’ve been able to connect with parents whose children also have the condition, as well as adults who live with it themselves. The group has shone a light on how differently the condition can manifest itself in individuals and provided some reassurance to Louise and her family that they are not alone in their experience of rare disease and the challenges this brings.
You can watch the video here and for more information on Rare Disease Day click here