Coufetery Comms

It has been an honour and a privilege to work with this exception group of experts from around the world in bringing this long-awaited project to publication. Following on from the CLN2 guidelines we published in 2021, these CLN3 diagnosis and management recommendations will hopefully bring greater awareness of the condition, faster diagnosis, and cohesive multidisciplinary care across specialities. I would like to thank the funding team and all the authors for their passion,

PKU awareness day is observed every year on the 28th of June, aiming to raise awareness of the condition. PKU is a rare genetic disorder...

To celebrate Batten Disease Awareness Day 2024, we are wearing orange. Our family would like to show support to all families touched by...

Today on day 18 of our rare disease awareness initiative, we have another birthday. HAPPY 3rd Birthday Mias!! Mias's mum Carien,...

On the 14th day of our rare disease initiative, I have the privilege to present David, who, at 36 years of age, is the oldest person...

On day 12 of our rare disease initiative, I have made a change to the format, to cover something that I feel completely necessary to...

Today is day 11 of our rare disease initiative, and I had the absolute privilege of talking to Nev, the father of Caoimhe, who has CAMK2....

Williams Syndrome. I had never heard of this until my son was at nursery with a little girl called Mabel who has the condition. I...