iiinova — where your digital self keeps evolving

For today's signs of the day, Anita and Sarah are here to teach you 'yes' and 'no'. A sign that could become really helpful if you meet someone who speaks Makaton.

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Unique @uniquecharity.bsky.social · 30/09/2026

Today is National Non-Speaking/Non-verbal Awareness Day. Today Niamh and Louise are teaching you how to say 'Hello' in Makaton. Give it a go, share your video and tag us! We also have a expert-written guide to communication available to download here bit.ly/nonverbalguide

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Unique @uniquecharity.bsky.social · 29/09/2026

“It was like a eureka moment… the answer to ‘why?’” After years of questions, a diagnosis at age 17 finally brought clarity, and through Unique, everything started to make sense. Read more here: rarechromo.org/little-red-book and share your story below.

Mother shares how Unique helped her understand her son's 18q chromosome deletion diagnosis and its impact on his development.

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Unique @uniquecharity.bsky.social · 28/09/2026

At 6 months old, Roger had little strength and was behind with other milestones. At 18 months, he was still unable to walk. He then received genetic screening which showed a de-novo 5q14.3q21.1 microdeletion which was a huge shock to the family. Read the full story in the images

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Unique @uniquecharity.bsky.social · 25/09/2026

Last month, Angus completed a gigantic challenge. In memory of his sister, he rode 1500 miles over 14 days - which is roughly 107 miles a day! Over the cycle Angus raised over £1,582 for Unique, an incredible achievement. Thank you Angus!

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Unique @uniquecharity.bsky.social · 24/09/2026

The 3rd Ring20 conference for r(20) families across the world is happening between 31th October and 1st November. The weekend will have a dedicated day on research, international speakers, a Q&A and an opportunity to mee r(20) families. Book now: ow.ly/qnHp50ZQaXC

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Unique @uniquecharity.bsky.social · 22/09/2026

When Briony was born, her future was uncertain. She now lives independently, socialises, and continues to thrive. “Unique gave us the confidence to fight for her rights.” Read her story here: rarechromo.org/little-red-book and be inspired to share yours below.

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Unique @uniquecharity.bsky.social · 18/09/2026

'I'm running the #YorkshireMarathon for Unique because the work they do is important to me and my family. Unique supported my Auntie and Uncle when my cousin Violet was born with a #RareChromosomalDisorder. I feel so grateful to be able raise money for an amazing charity' ow.ly/pKX450ZIirz

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Unique @uniquecharity.bsky.social · 18/09/2026

Meet Tabitha, in a month's time she will be running the Yorkshire Marathon for Unique. She has already smashed her target! But she's not stopping there, if you'd like to give Tabitha that extra boost of motivation you can donate to her fundraiser here: ow.ly/EvF850ZIihf

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Unique @uniquecharity.bsky.social · 16/09/2026

The Unique team have pulled out their denim for Jeans for Genes Week to help change the lives of the 1 in 25 Children in the UK affected by a genetic condition. Jeans for Genes UK are an incredible organisation so get your jeans out and help spread the word!

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Unique @uniquecharity.bsky.social · 15/09/2026

“I received the results when I was 8 months pregnant.” Sammy discovered she had an inherited a rare #genetic condition, now she's thinking about what it could mean for her daughter’s future. Read her story here: rarechromo.org/little-red-book and share yours below.

Portrait of a smiling woman with long brown hair wearing a floral top, alongside text about her 16p13.11 microduplication diagnosis during pregnancy.

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Unique @uniquecharity.bsky.social · 11/09/2026

We have a new guide on Houge-Janssens syndrome! 👀Take a look: ow.ly/Mx2M50ZIc5H Houge-Janssens syndrome is a rare genetic condition associated with neurodevelopmental delay, language delay, behavioural challenges, hypotonia, epilepsy and sleep difficulties.

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Unique @uniquecharity.bsky.social · 08/09/2026

Meet Summer, she is diagnosed with a change in her HERC1 gene, a condition so rare she is only known to be one of eight in the world. Her family found ‘so much support from the unique community’. Find out more about her and others in our little red book: rarechromo.org/little-red-book

A young girl named Summer with a rare HERC1 gene variant, supported by a unique community despite her developmental challenges.

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Unique @uniquecharity.bsky.social · 07/09/2026

Today is Duchenne Muscular Dystrophy (DMD) Awareness Day! Did you know: Around 2,500 people are living with DMD in the UK, and 1 in 3,500 live male births are affected worldwide. Learn more at Duchenne UK’s website: www.duchenneuk.org

Explanation of Duchenne Muscular Dystrophy (DMD) as a progressive muscle weakness disease caused by lack of dystrophin affecting skeletal, heart, and lung muscles.

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Unique @uniquecharity.bsky.social · 06/09/2026

Have you used - or are currently using - preimplantation genetic testing for monogenic disorders (PGT-M)? Researchers are running an anonymous survey to understand what support individuals and couples need during the PGT-M journey. The survey takes around 10-15 minutes. bit.ly/PGTMsurvey

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Unique @uniquecharity.bsky.social · 05/09/2026

🏆 Thank you to Noah, who set up and held a fundraiser all on his own, raising £355. Noah wanted to raise money for Unique because his cousin, who adores Noah, is affected by a rare chromosome deletion. Your fundraiser has inspired us all - THANK YOU! 🌟

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Unique @uniquecharity.bsky.social · 02/09/2026

Help explore the experiences of unpaid carers supporting someone with both Intellectual Disability (ID) and dementia in an interview. This can take place in person, by telephone or by video call. Email klr483@student.bham.ac.uk to get involved

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Unique @uniquecharity.bsky.social · 01/09/2026

Otis was diagnosed with a rare chromosome disorder, 3q13.11q13.33 chromosome deletion. Despite the challenges, Otis is full of joy. Discover more about him and other families living with genetic disorders here: rarechromo.org/little-red-book

Young boy with glasses and a blue shirt sitting and smiling, representing resilience despite a rare chromosome disorder diagnosis.

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Unique @uniquecharity.bsky.social · 28/08/2026

We recently remined you of our poster, presenting our work with students at the Julia Garnham Centre, which we shared at the ESHG conference in June. We thought we'd share the full poster with you all. We'd love to hear what you think of this project. Let us know in the comments

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Unique @uniquecharity.bsky.social · 27/08/2026

The ELSI Node is pleased to invite researchers, healthcare professionals, policymakers and patient support groups to share experiences and insights on the Ethical, Legal and Social Issues (ELSI) surrounding rare conditions. Register now: ow.ly/NroS50ZF2Zf

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Unique @uniquecharity.bsky.social · 26/08/2026

Join #TeamUnique at the Royal Parks Half Marathon next month. Claim a place by emailing matt@rarechromo.org. With the deadline to register less than a week away we'll reduce the fundraising target for the event. So now's the perfect opportunity to try out the popular event.

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Unique @uniquecharity.bsky.social · 24/08/2026

Thank you, Kimie for raising £440 by taking on the Manchester 10k earlier this year - in the coolest outfit at the event! Kimie has been a huge support over the years, helping us to continue supporting families around the world affected by rare chromosome and gene disorders.

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Unique @uniquecharity.bsky.social · 22/08/2026

It’s #SATB2-Associated Syndrome (SAS) Awareness Day! Our guide is designed to help families and healthcare professionals looking after people with SAS. It contains information about the cause, how it can affect people and how to manage this condition. ow.ly/nqb650ZzkYI

Purple background with colorful abstract shapes and text announcing SATB2-Associated Syndrome Awareness Day on 22nd August 2026 by Unique.

Guide to SATB2-associated syndrome covering overview, medical concerns, support, research, and management by Unique.

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Unique @uniquecharity.bsky.social · 21/08/2026

It’s #DYRK1Asyndrome Awareness Day! Did you know? The Deciphering Developmental Disorders, is seeking to identify genetic causes of developmental delay in children and has identified DYRK1A as being one of the 10 most frequent genes involved. ow.ly/pvc150ZynLk

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Unique @uniquecharity.bsky.social · 21/08/2026

It’s #DYRK1Asyndrome Awareness Day! Our guide is designed to help families and healthcare professionals looking after people with DYRK1A syndrome. It contains suggestions about the help and management of the condition. Take a look: ow.ly/8GZB50ZynH6

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Unique @uniquecharity.bsky.social · 20/08/2026

Have you noticed our family story posts every Tuesday? Over the last few weeks we have been sharing pages from our Little Red Book, dedicating a post to every story. If you're eager to hear more, you can explore the complete Little Red Book now: rarechromo.org/little-red-book

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Unique @uniquecharity.bsky.social · 19/08/2026

We're still reliving the ESHG conference where we presented our poster about our work with Julia Garnham Centre which brought together students, scientists, clinicians, patient advocates and families affected by rare genomic conditions to produce many new guides for our families.

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Unique @uniquecharity.bsky.social · 18/08/2026

A gender reveal said girl. Later tests said boy. Doctors weren’t sure. It wasn’t until birth that everything made sense. Sometimes the journey is uncertain, but the love is not. Read Albie’s story here: rarechromo.org/little-red-book and get in touch to share yours.

Baby boy with a curious expression, accompanied by a story about genetic testing and prenatal diagnosis challenges.

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Unique @uniquecharity.bsky.social · 17/08/2026

Do you find navigating the complicated benefits system difficult? Renaissance Legal are hosting several webinars that focus to help. You can register for each of these events direct from Renaissance Legal's webite here: renaissancelegal.co.uk/event-seminar

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Unique @uniquecharity.bsky.social · 14/08/2026

Our latest paper outlines the nature of support and information services provided by Unique and highlights key insights gleaned from direct engagement with our members. Take a look here: journals.sagepub.com/doi/10.1177/22…

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Unique @uniquecharity.bsky.social · 13/08/2026

Are you a parent/guardian of a child (0-17 years) with a life-limiting condition in England? Researchers at King’s College London want to improve social care support for children with life-limiting conditions and their families. Contact kentownresearchstudy@kcl.ac.uk for an interview and workshop

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Unique @uniquecharity.bsky.social · 12/08/2026

We are delighted to share our new guide on #QRICH1RelatedSyndrome (#VerveriBradySyndrome). 👉https://ow.ly/lKfG50ZwSRK This guide was produced with the kind help of Dr Angela F Brady and Unique members

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Unique @uniquecharity.bsky.social · 11/08/2026

“There was nothing darker or more isolating than that phone call.” Talia’s family faced a diagnosis with no answers, until they found connection, friendship, and hope through Unique. Read Talia’s story here: rarechromo.org/little-red-book and share yours below in the comments.

Portrait of a young girl with a rare genetic duplication smiling gently, accompanied by a heartfelt story about finding community and hope through Unique support.

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Reposted by Unique

Tim Wheatley @88mphtim.tv · 28/07/2026

This database of information was very valuable to me when we started the process of trying to help my youngest daughter. Finding out about others with the same microdeletion told us what kind of life and challenges we could expect for her. Great resource.

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Unique @uniquecharity.bsky.social · 10/08/2026

We need to raise £650 in pledges by the end of August for our Big Give Christmas Challenge application to be accepted. If you are able to pledge a £100 donation (or more!) towards our Christmas Appeal, please click on this link: community.biggive.org/s/pledge?camp…

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Unique @uniquecharity.bsky.social · 08/08/2026

Last week, Alex took on the 50k ultra challenge hike over the beautiful Surrey Hills with best of supporter joining her for the ride 👶What an absolute star! 🌟 Alex's fundraising page is still open if you'd like to donate www.justgiving.com/page/alexdixon4u…

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Unique @uniquecharity.bsky.social · 06/08/2026

Artie is 18 months old and has #SOX11syndrome. He’s curious, loves dogs, puzzles and has recently found an interest in trains. "From the moment Arthur was born, we felt something was a little different." Let us know if you relate 👇

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Unique @uniquecharity.bsky.social · 04/08/2026

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: rarechromo.org/little-red-book

Personal story of a pediatric nurse raising awareness about CACNA1C-related disorder affecting her son Patrick in the USA.

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Unique @uniquecharity.bsky.social · 02/08/2026

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.

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Unique @uniquecharity.bsky.social · 30/07/2026

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

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Unique @uniquecharity.bsky.social · 28/07/2026

“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: ow.ly/xLmX50ZtKnh and share yours below.

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Unique @uniquecharity.bsky.social · 28/07/2026

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.

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Unique @uniquecharity.bsky.social · 22/07/2026

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: ow.ly/li4y50ZpWWJ

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Unique @uniquecharity.bsky.social · 21/07/2026

“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: ow.ly/Z28s50ZpNk7 and share yours below.

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Unique @uniquecharity.bsky.social · 20/07/2026

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! ow.ly/eAcb50ZpNg7

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Unique @uniquecharity.bsky.social · 18/07/2026

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: www.justgiving.com/campaign/rarechr…

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Unique @uniquecharity.bsky.social · 17/07/2026

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: ow.ly/XRpn50ZojpQ

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Unique @uniquecharity.bsky.social · 16/07/2026

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!

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Unique @uniquecharity.bsky.social · 15/07/2026

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: ow.ly/qcVI50ZnQpS

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Unique @uniquecharity.bsky.social · 13/07/2026

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.

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