Unique is an open, supportive community for people who are looking to learn, share lived experiences and connect with others whose life has been touched by rare chromosome or gene disorders. They are here to support and celebrate people living truly unique lives. I'm supporting their mission to raise £34,000 for Rare Chromo Day 2026.

Oliver's story

Last week, 2 year old Oliver was diagnosed by his geneticist with a very rare chromosome disorder called Maternal Uniparental Disonomy 14, or Temple Syndrome. All of the symptoms of Temple explain everything that has happened to him so far in his little life, from those first 6 weeks in NICU through his struggles to feed, grow and move, and through to his operation, so it was a relief to get an explanation even if it was also a huge shock. Moving forward, things might be complicated for him but hopefully it will all be treatable. He might be small but he is such a strong and special boy!

As it is very rare (less than one in a million kind of rare), there isn't much info out there and we are finding that Oliver's doctors haven't even heard of it, but Unique is a wonderful charity who have produced this guide:

https://www.rarechromo.org/media/information/Chromosome%2014/Uniparental%20Disomy%2014%20FTNW.pdf

Unique need funding to continue their great work informing and connecting people with rare chromosome disorders, so they are currently fundraising through a collective 3 billion step challenge (the amount of letters in each genome). Although we have only known for a week, to give me a focus I've decided to take part in the challenge and I am aiming to do 14,000 steps every day (as his disorder is in the 14th chromosome) for the next week, up to Rare Chromo Day on 25th June (maybe longer if I really enjoy it!).