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Unique @uniquecharity.bsky.social · 5d

What is the biggest personal challenge for you due to having, or caring for someone, with a rare #chromosome or #gene disorder?

These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬

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Unique @uniquecharity.bsky.social · 6d

Don't forget you can now get our 2025 Christmas cards! We have 5 new designs and some of old stock available too. 🎄

Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...

Unique @uniquecharity.bsky.social · 7d

The awareness days keep on coming, with today being #CACNA1C Awareness Day.

Read Unique's quick read quide to CACNA1C on our website at rarechromo.org/disorder-gui... - you'll find it under the Single Gene Disorder Guides section.

#RareDisease @cacna1c.bsky.social

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Unique @uniquecharity.bsky.social · Aug 27

Unfortunately, we are currently unable to ship our merchandise to the United States due to the new tariffs. If you have bought something since the start of the tariffs we will be in touch to refund any purchases - and we'll keep everyone updated if the situation changes.

Unique @uniquecharity.bsky.social · Aug 26

Everyone processes receiving a diagnosis differently. This recent performance captures the impact it can have on relationships and wider family by following a conversation around a couple’s experience of a de novo (new) genetic diagnosis in their child

⏯️www.youtube.com/watc...

Unique @uniquecharity.bsky.social · Aug 22

Our community never fails to inspire us.

Cailin is a talented jewelry maker, and has bee selling her stunning creations to raise money for Unique. Isn't she talented?!

Thank you Cailin for your continued support, it really means so much to us.

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Unique @uniquecharity.bsky.social · Aug 18

*Warning, post mentions Christmas - scroll on if you're not ready just yet 🎄

We are excited to have received our 2025 Christmas card delivery and they're now available our shop.

Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...

Unique @uniquecharity.bsky.social · Aug 13

The amazing Cailin has been fundraising for Unique by making and selling stunning jewelry and crafts.

Thank you Cailin, you are incredibly talented!

Cailin USP7 Warrior 🦓 @cailinmeara.bsky.social · Mar 17

@uniquecharity.bsky.social #Charity

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Reposted by Unique

Sarah Wynn @sarahlwynn.bsky.social · May 29

Amazing and exciting progress for rare conditions and families @uniquecharity.bsky.social. By all (clinicians, researchers and patients) working together will can continue to drive forward improved diagnosis, care and treatment for all.

Caroline Wright @carolinefwright.bsky.social · May 29

Both translational and fundamental curiosity-driven research are needed to fuel the incredible progress we're seeing in genomic medicine; an important message in this article and and some lovely quotes from @sarahlwynn.bsky.social
www.ft.com/content/25dd...

Curiosity underlies a breakthrough in rare disease

We must recognise and protect the pipelines that lead from research to real-world benefit

www.ft.com

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Unique @uniquecharity.bsky.social · Aug 5

Researchers want to design a novel self-report sleep questionnaire and sleep diary for adolescents (aged 12-18 years) with mild-moderate intellectual disabilities. Can you help by sharing more on your child's attitude towards sleep measures: astonpsychology.eu.q...

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Unique @uniquecharity.bsky.social · Jul 29

We are super excited to introduce a few new members to the Unique team!

Grace is interning for us as an Information Officer for the summer and Emily joins as a part time Information Officer from September. We're extremely excited and lucky to have such wonderful people join us.

Unique @uniquecharity.bsky.social · Jul 24

We love sharing story's from our community around the world - it helps us all feel connected. Today we share Kai's story, told by Madison. If you relate please drop a comment below.

Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.

Unique @uniquecharity.bsky.social · Jun 28

Today is Pallister-Killian Syndrome (PKS) Awareness Day!

Let’s work together to raise awareness and celebrate the diversity that makes our community so special.

Download our guide to PKS here: bit.ly/P-Ksyndrome

#PKSAwarenessDay #RareChromosome #UniqueCharity #PKS

Unique @uniquecharity.bsky.social · Jun 12

Today is DDX3X Awareness Day!

12th June marks the fifth annual International DDX3X Day!

Share our expert-written guide, freely available online at bit.ly/3VlQ0D5

#DDX3X #RareChromo #GeneDisorder #ChromosomeX #AwarenessDay #Unique #FamilySupport

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Unique @uniquecharity.bsky.social · Jun 6

Today is International Chromosome 6 Awareness Day! 🧬

Unique offers expert written guides to over a dozen disorders related to chromosome 6. Freely available on our website at bit.ly/alluniqueguides

#Chromosome6 #Chromosome6awareness #June6 #RareChromo

Unique @uniquecharity.bsky.social · Jun 4

You may have noticed our new logo!

It is now available on our shop to download and use in your awareness campaigns in the run up to #RareChromoDay 2025. Please purchase the logo via our shop at: bit.ly/UniqueLogoOffer

#Unique #RareChromo #RareGene #RareChromoDay #Charity

Unique @uniquecharity.bsky.social · Jun 1

June is Lamb-Shaffer Syndrome Awareness Month!

🧬 Our free, expert-written guide to Lamb-Shaffer syndrome is available on our website at bit.ly/lambshaffer

🙌 Help us raise awareness by sharing this post.

#LambShafferAwarenessMonth #LambShafferSyndrome #LambShaffer

Unique @uniquecharity.bsky.social · May 22

It's just 4 weeks until Rare Chromo Day 2025!

There are hundreds of ways to get involved during the run up to the big day. Help us by fundraising, donating, sharing your story and spreading the word!

👉 Head to: rarechromo.org/get-r... to find out what we have planned!

Unique @uniquecharity.bsky.social · May 8

We are calling clinicians to propose rare genetic neurodevelopmental disorders, which they will be willing to lead development of a new guide, with assistance of our generative AI model.

Propose a condition by 30th May:
forms.office.com/e/j...

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Unique @uniquecharity.bsky.social · May 1

💛 Today is Global Developmental Delay Awareness Day 💛

We're proud to stand with our members and families affected by GDD. Show your support today by wearing yellow and sharing why you care!

#GDDawareness #GlobalDevelopmentalDelayDay #InvisibleDisability #UniqueCharity

Unique @uniquecharity.bsky.social · Apr 25

It's Undiagnosed Children’s Day! 🙌 🎈

Many families spend years searching for answers, living with the unknown, without a name for their child’s condition. Please consider sharing this post, taking part in a fundraiser, or donating to support SWAN UK’s work.

#SWANUK

Unique @uniquecharity.bsky.social · Apr 22

Best of Luck and a BIG shout out to our London Marathon 2025 runners for this coming Sunday!!Here is a lovely photo montage of them all! You can also read their lovely personal stories on their fundraising pages linked in our linktree!

Thanks to you all from all of us! 😊

Unique @uniquecharity.bsky.social · Apr 17

Join us on Wednesday 21st May 2025 at 1pm (UK time) for a talk by Dr Hayley Crawford, Associate Professor at the University of Warwick's Mental Health and Wellbeing Unit 🧠

Register here: bit.ly/behaviourchec...

#IntellectualDisability #BehaviourSupport #ParentCarers

Unique @uniquecharity.bsky.social · Apr 16

A big Shout Out to Alan Morrison who is running the Boston Marathon for Unique this weekend, having taken on the challenge of running all seven major marathons that comprise the Abbotts World Marathon Majors series. Check out his story at: www.justgiving.com/p...

#BostonMarathon

Alan's fundraiser for UNIQUE (Rare Chromosome Disorder Support Group)

Help Alan Morrison raise money to support UNIQUE (Rare Chromosome Disorder Support Group)

www.justgiving.com

Unique @uniquecharity.bsky.social · Apr 15

New Guide! White-Sutton syndrome (WHSUS) (POGZ-related syndrome)

Read the guides here: bit.ly/WHSUSguide

#WhiteSuttonSyndrome #GeneticDisorders #RareChromo