Unique - Rare Chromosome Disorder Support Group

Unique - Rare Chromosome Disorder Support Group Support, information and networking to help those with rare chromosome and gene disorders and their families.

To join, please head to rarechromo.org/join-us for all the details This is the public page of the Official Unique rare chromosome disorder support group. Unique's aim is to inform, support and alleviate the isolation of anyone affected by a rare chromosome disorder and to raise public awareness.Unique is a registered charity - charity registration no. 1110661

Thank you to Kimie who raised an incredible £440 taking on the Manchester 10k earlier in the year - in the coolest outfi...
24/08/2026

Thank you to Kimie who raised an incredible £440 taking on the Manchester 10k earlier in the year - in the coolest outfit at the event!

Kimie has been a huge support for Unique over the years. Supporters like her make such a difference to help us continue our work supporting families around the world affected by rare chromosome and gene disorders.

We have lots of running events coming up, take a look at our events hub on Run for Charity to find an event that excites you: https://runforcharity.com/charity-eventhub/unique-rare-chromosome-disorder-support-group/all-events

It’s SATB2-Associated Syndrome (SAS) Awareness Day! Do you know someone with SAS? Let us know in the comments 💬 Our guid...
22/08/2026

It’s SATB2-Associated Syndrome (SAS) Awareness Day! Do you know someone with SAS? Let us know in the comments 💬

Our guide is designed to help families and healthcare professionals looking after people with SAS. It contains information about the cause, the ways in which it can affect people and suggestions about the help and management that can benefit people with this condition.

Take a look at our SAS guide here:https://rarechromo.org/media/information/Chromosome%20%202/SATB2%20syndrome%20FTNW.pdf

Did you know? Some of the common features can be described using the acronym SATB2 (which is the name of the gene involved in the condition): severe speech anomalies, abnormalities of the palate, teeth anomalies, behaviour issues, with or without bone or brain anomalies, and onset before age 2.

It’s DYRK1A Syndrome Awareness Day! Our guide is designed to help families and healthcare professionals looking after p...
21/08/2026

It’s DYRK1A Syndrome Awareness Day!

Our guide is designed to help families and healthcare professionals looking after people with DYRK1A syndrome. It contains information about the cause, the ways in which it can affect people and suggestions about the help and management that can benefit people with this condition.

Take a look at our DYRK1A syndrome guide here:https://rarechromo.org/media/information/Chromosome%2021/DYRK1A%20and%2021q22.13%20deletion%20syndrome%20FTNW.pdf

Did you know? A large research study in the UK, Deciphering Developmental Disorders, is seeking to identify the genetic causes of developmental delay in children and has so far identified DYRK1A as being one of the 10 most frequent genes involved.

Have you noticed our family story posts every Tuesday?Over the last few weeks we have been sharing pages from our Little...
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 single story written for our 40th anniversary publication.

No two stories are the same. With the help of our global community, the book shares powerful insights into life with rare chromosome and gene disorders. If you're eager to hear more, you can explore the complete Little Red Book and discover the strength, courage, and uniqueness of our members’ experiences now: https://rarechromo.org/little-red-book/

We're still reliving the ESHG conference back in June where we presented our poster about our work with the Julia Garnha...
19/08/2026

We're still reliving the ESHG conference back in June where we presented our poster about our work with the Julia Garnham Centre.

This project brought together students, scientists, clinicians, patient advocates and families affected by rare genomic conditions. Alongside these students we have been able to produce many new guides for our families.

It was so lovely to be able to meet some of the students involved in this work. Thank you to everyone who has made this project a huge success, we can't wait to see where the collaboration can take us.

Albie’s story didn’t follow a straight line.During pregnancy, nothing quite added up, tests suggested one thing, scans s...
18/08/2026

Albie’s story didn’t follow a straight line.

During pregnancy, nothing quite added up, tests suggested one thing, scans suggested another, and every appointment seemed to bring more questions than answers.

A gender reveal said girl. Later tests said boy. Even the doctors weren’t sure what to trust.
It wasn’t until Albie was born, in NICU, that genetic testing revealed his unique genetic make-up and everything finally began to make sense.

What started as confusion and uncertainty became clarity, and ultimately, joy.
“He is the best thing to be a part of in this world.”

Read Albie’s full story in the image and if you relate, you can connect with families navigating the unknown by joining Unique as a member today: https://rarechromo.org/join-us/

18/08/2026

Are you a parent navigating a rare disease diagnosis?

Join Unique - Rare Chromosome Disorder Support Group and NHS South East Genomic Medicine for the national launch of their guide 'Finding your way: A Parent's Guide to Rare Disease'

Date: Wednesday 16th September📅
Time: 12pm - 1pm

The event will be hosted by Sarah Wynn, CEO of Unique - Rare Chromosome Disorder Support Group and Frances Elmslie, Consultant Clinical Scientist.

Written by parents, for parents, this new guide offers practical support and trusted resources for families navigating being diagnosed with a rare genetic condition.

You'll hear stories from the parents who wrote the guide, Adam Clatworthy and Mel Dixon, on their journey to find the right support.

By joining, you'll hear personal experiences of receiving a child's rare disease diagnosis, helping to form stronger connections with the rare disease community.

Register for the online event 👉https://loom.ly/qIcQoSg

Creld1 Warriors Cure DHDDS

THANK YOU!
17/08/2026

THANK YOU!

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