Unique
@uniquecharity.bsky.social
Unique supports & informs anyone born w/a rare chromosome or gene disorder, their families & carers. Eurordis Patient Organisation Award winner. http://rarechromo.org
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 💬
These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬
October 3, 2025 at 2:31 PM
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 💬
These are all responses given when we asked in our 40th birthday survey. Let us know if they resonate with you the comments 💬
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...
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
October 2, 2025 at 4:30 PM
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...
Packs are £4 for 10 cards or £3.50 for the remainder of our 2024 packs.
unique-chromo-shop.m...
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
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
October 1, 2025 at 2:11 PM
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
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
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.
August 27, 2025 at 10:21 AM
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.
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...
⏯️www.youtube.com/watc...
August 26, 2025 at 11:17 AM
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...
⏯️www.youtube.com/watc...
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.
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.
August 22, 2025 at 11:25 AM
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.
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.
*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...
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...
August 18, 2025 at 8:09 AM
*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...
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...
The amazing Cailin has been fundraising for Unique by making and selling stunning jewelry and crafts.
Thank you Cailin, you are incredibly talented!
Thank you Cailin, you are incredibly talented!
August 13, 2025 at 10:30 AM
The amazing Cailin has been fundraising for Unique by making and selling stunning jewelry and crafts.
Thank you Cailin, you are incredibly talented!
Thank you Cailin, you are incredibly talented!
Reposted by Unique
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.
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...
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
May 29, 2025 at 9:54 AM
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.
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...
August 5, 2025 at 5:04 PM
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...
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.
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.
July 29, 2025 at 6:20 PM
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.
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.
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.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
July 24, 2025 at 3:46 PM
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.
Kai lives in Maryland, USA and has 15q13.3 #microdeletion #syndrome.
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
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
June 28, 2025 at 7:00 AM
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
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
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
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
June 12, 2025 at 11:22 AM
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
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
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 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
June 6, 2025 at 7:00 AM
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 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
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
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
June 4, 2025 at 6:00 AM
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
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
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
🧬 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
June 1, 2025 at 6:00 AM
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
🧬 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
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!
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!
May 22, 2025 at 6:00 AM
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!
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!
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...
Propose a condition by 30th May:
forms.office.com/e/j...
May 8, 2025 at 12:29 PM
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...
Propose a condition by 30th May:
forms.office.com/e/j...
💛 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
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
May 1, 2025 at 10:23 AM
💛 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
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
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
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
April 25, 2025 at 8:00 AM
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
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
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! 😊
Thanks to you all from all of us! 😊
April 22, 2025 at 2:00 PM
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! 😊
Thanks to you all from all of us! 😊
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
Register here: bit.ly/behaviourchec...
#IntellectualDisability #BehaviourSupport #ParentCarers
April 17, 2025 at 10:00 AM
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
Register here: bit.ly/behaviourchec...
#IntellectualDisability #BehaviourSupport #ParentCarers
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
#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
April 16, 2025 at 7:00 AM
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
#BostonMarathon
New Guide! White-Sutton syndrome (WHSUS) (POGZ-related syndrome)
Read the guides here: bit.ly/WHSUSguide
#WhiteSuttonSyndrome #GeneticDisorders #RareChromo
Read the guides here: bit.ly/WHSUSguide
#WhiteSuttonSyndrome #GeneticDisorders #RareChromo
April 15, 2025 at 3:22 PM
New Guide! White-Sutton syndrome (WHSUS) (POGZ-related syndrome)
Read the guides here: bit.ly/WHSUSguide
#WhiteSuttonSyndrome #GeneticDisorders #RareChromo
Read the guides here: bit.ly/WHSUSguide
#WhiteSuttonSyndrome #GeneticDisorders #RareChromo