Years without a diagnosis meant sleepless nights and endless searching, until everything changed. “You are no longer alone.” Patrick’s story is one of answers, support, and purpose. Read the full story in our Little Red Book now: https://rarechromo.org/little-red-book/

Daniela and her son gave a local street performance in Germany and raised €269 for Unique as part of our Rare Chromo Day fundraiser. What a talented family they are! Thank you to them both for getting out, spreading the word about Unique and raising some money in the process.

The RaDiaNT Study are looking for individuals who have a confirmed diagnosis of NRXN 1 Deletion and their family members (parents/siblings) with or without NRXN 1 Deletion. Get involved, or learn more by emailing the researchers on recruitment.beacon@sickkids.ca

“We never imagined that many other patients would share the same syndrome.” After years without answers, one family received a diagnosis of #ReBUsyndrome and found connection, support, and a global community through Unique Read their story here: https://ow.ly/xLmX50ZtKnh and share yours below.

We're looking ahead to a possible Big Give campaign, where we will be aiming to raise £20,000 via match funding. We need £5,000 worth of pledges that will make up part of the match funding. We are asking for your help to find a number of pledgers willing to support the campaign.

Could you help improve genomic diagnostic reports and the way genomic diagnoses are communicated to families? Take part in a short survey to see what could be improved: https://ow.ly/li4y50ZpWWJ

“We never imagined that many other patients would share the same syndrome.” After years without answers, one family received a diagnosis of Renu syndrome and found connection, support, and a global community through Unique Read their story here: https://ow.ly/Z28s50ZpNk7 and share yours below.

To celebrate his 70th birthday, John and many of his family took on the Great North Swim 2026 in June raising a huge sum of £1,510 for Unique. What a fantastic effort by everyone! THANK YOU and HAPPY BIRTHDAY to John for all the support! https://ow.ly/eAcb50ZpNg7

We're into the home stretch of our fundraiser. We are now slowly edging towards £15,000 - we're currently at £12,618. Could you help by setting up a fundraising page in the final few weeks of July? Set one up or donate here: https://www.justgiving.com/campaign/rarechromoday2026

A research team at the University of Edinburgh are working on a research project to improve how epilepsy is diagnosed in babies by developing a device that can record brain activity outside of hospital settings. Visit their site for further information: https://ow.ly/XRpn50ZojpQ

We love schools getting involved in raising awareness and fundraising for us, we think it's great to teach children about rare chromosome and gene disorders! This school raised £410 over #RareChromoDay by wearing bright clothes and having a water fight on a recent scorcher of a day!

We're just over two weeks away until our #RareChromoDay fundraiser comes to a close. We have 34,000 families in our membership, so we're raising £34,000 to help us continue our work to support each one of them. If you're able, please consider donating: https://ow.ly/qcVI50ZnQpS

We've been busy generating more information guides for rare genetic disorders. We've been working on a collaborative project with the Manchester Rare Conditions Centre, North West Genomic Medicine Service Alliance and Shorthills AI, leveraging LLMs to generate accessible information guides.

Happy #17q12 awareness day to all our wonderful community!

Colin Heinink@albiestar.bsky.social · 4w ago

It’s #17q12 awareness day. All three of us happy by the sea in #Sheringham #NorthNorfolk ☀️🌊🙂🙂🙂 #17q12awarenessday #howwefly #17q12deletion #chromosome17q12 #rarechromosomedisorder @uniquecharity.bsky.social

Meet Arlo, he lives with 1q21.1q21.2 microduplication. Arlo's family explain what they get out of being a Unique member. "Going through similar experiences helps you feel less alone." Read our Little Red Book here: https://rarechromo.org/little-red-book/

We have now published 100 Single Gene Disorder guides! Can you find your diagnosis in the list? If you would like to access our single gene disorder guides or any other guide you can do so for free on our website here: https://rarechromo.org/disorder-guides/

A reminder that applications to get a place in the TCS London Marathon 2027 for #TeamUnique close on Sunday 5th July 2026. Download the application here: https://rarechromo.org/london-marathon-2027/ GOOD LUCK! 🏃‍➡️🏃‍♀️‍➡️🏃‍♂️‍➡️

Meet Alex, who lives with 2p16.3 deletion. Receiving the diagnosis was extremely lonely as his parents didn't know what it meant for Alex. When they found Unique, they found support and a sense of community. 📕 Read the full story in our Little Red Book https://rarechromo.org/little-red-book/

Could you be the one to get us £5,000? Nominate us by searching for our charity under the name 'Rare Chromosome Disorder Support Group' (find our name alongside our charity number, 1110661) https://movementforgood.com/draws/special/community#nominateACharity

THANK YOU to everyone that helped make #RareChromoDay extra special. We loved seeing your photos, reading your stories and seeing how incredible our community is at supporting one another. What did you like most about yesterday?

As our day (in the UK at least) comes to an end, all we can do is say THANK YOU! You've all been amazing today, we can't wait to see what comes from all your awareness today, we know it'll have made a huge difference to so many families!

How has connection helped you with your diagnosis? We'd love to hear your stories of connection and why it's so important for families with rare diagnoses

Our collages have been our favourite things about today, thank you to everyone who shared their photos to be included. We've still got a few more to come, so the day isn't over yet! #RareChromoDay

We are Unique, and so are you! Have you had a nice #RareChromoDay so far?

Unique relies on donations to help us continue what we do best, supporting families and reducing isolation to anyone affected by a rare chromosome or gene disorder. If you'd like to donate to our #RareChromoDay campaign, you can do so here: https://www.justgiving.com/campaign/rarechromoday2026

Keep your posts coming, we love seeing them!

Did you know we have lots of Unique merch, it's an easy way to both raise money AND raise awareness all in one. If you decide to take on a Unique challenge such as a marathon, we also offer a free t-shirt as a thank you. Get your hands on a t-shirt from out online shop: https://ow.ly/9RJ250ZgiAY

Are you looking at our photos wishing to hear more about the experiences and stories from our community? Well, you can read over 100 stories in our Little Red Book that we launched for #RareChromoDay 2025. Find it here: https://rarechromo.org/little-red-book/

If there was one thing you'd like people outside of our community to know about life with a rare chromosome and gene disorder, what would it be? Let us know in the comments #RareChromoDay

How have you been enjoying seeing our collage posts? There's lots more to come! We love seeing your photos and reading your stories, keep up the noise today.