It’s Rare Disease Day!

3 mins read

Friday 28 February 2025


An adult woman standing with two boys, one in an adapted wheelchair, in a Disney forest grotto in front of a Disney Wish log sign


Today, Friday 28 February, is Rare Disease Day, raising awareness and generating change for the 300 million people worldwide living with a rare disease, their families and carers.

There are more than 6,000 known rare conditions, and there are thought to be many more yet to be discovered. Doctors rarely see children with these conditions, making it harder to recognise them.

What support is there for me?

If your child has a rare condition, it can sometimes be a harder to get the information you need. But there is plenty of advice to be found online and from other parents. And there are things you can do to make sure you’re getting the right support for your family.

That’s why we’ve recently updated our parent guide, “Living without a diagnosis“. This booklet explains why it can be challenging getting a diagnosis if your child has a rare condition. It also looks at what support your child is eligible for regardless of whether they have a diagnosis or not. We also publish a similar guide, “Living with a rare condition“.

You can also visit our dedicated webpage on rare conditions or browse our A-Z medical conditions.

Other great sources of support for rare conditions are Genetic Alliance UK, and SWAN UK (Syndromes Without A Name).

“A 10/10 experience we’ll never forget”

One family living with a rare condition we’ve supported is Emma and her two boys. Leo, aged 10, has the rare genetic condition KPTN – there are only 50 known cases worldwide. He is a wheelchair user, has severe epilepsy and global developmental delay. They live in Liverpool.  

Emma said:

“I used Contact’s Listening Ear service when at a low ebb. Following a new diagnosis for my disabled son, Leo, I was also struggling financially and housing wise. I found it absolutely invaluable to receive the advice and empathy from a fellow parent carer who had already walked the same path that I was just embarking upon.

“Contact put me in touch with a journalist from a national newspaper regarding the housing crisis and its impact on disabled children. At this time I was paying a very high rent, my wheelchair-using son was sleeping in the dining room and I was having to carry a large six year old up a spiral staircase to use the bathroom. The landlord had also given me notice to leave as he wished to cash in.

“Just two months later I finally got the call and was offered a fantastic adapted property. Even if the article was not the reason, I felt empowered to have at least done something and to raise awareness of families like mine.

“Contact put my family forward for the Make-A-Wish Foundation country hotel Disney experience weekend, and it was absolutely wonderful! A 10/10 in every way for every member of my little family, and an experience that we’ll all, especially my disabled child, never forget.”