Data Protection & Privacy Policy

...you make a donation via the Unique website at www.rarechromo.org we collect certain information to enable us to process the transaction. This information includes your name, address, email address, telephone...

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Professionals

COVID-19 General Advice

...More information about the Covid-19 vaccination programme is available here: https://www.gov.uk/government/publications/priority-groups-for-coronavirus-covid-19-vaccination-advice-from-the-jcvi-30-december-2020/joint-committee-on-vaccination-and-immunisation-advice-on-priority-groups-for-covid-19-vaccination-30-december-2020#fn:3 Why you should register with your GP as a carer: https://www.carersuk.org/help-and-advice/health/looking-after-your-health/your-gp Unique’s Carers Wellbeing guide: https://www.rarechromo.org/practical-guides-for-families/ Guidance on shielding and protecting people...

Mental health & wellbeing

...pick up the phone or send us an email. T: +44 (0) 1883 723356 (Monday to Friday 9am – 5pm BST/GMT) E: info@rarechromo.org FACEBOOK SUPPORT GROUPS Unique has a private and hidden...

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Families

Cookie Policy

...help us improve this site. The cookies collect information in anonymous form, including the number of visitors to the site, where visitors have come to the site from and the...

Gift ideas and useful websites

...in the UK. To order yours, go to rarechromo.org/html/DonateWP.aspselect Buying Merchandise and tell us in the box how many bags you would like to order. Then complete your payment and...

Disclaimer

This Web Site Copyright © Unique – The Rare Chromosome Disorder Support Group 2020 Although great care has been taken to ensure the accuracy of the information in this website,...

Awareness Day 2023

...instructions for use) or Click here for the Cupcake toppers Click here to order edible rice paper toppers from www.mycupcaketoppers.co.uk/products/unique Wear something Unique and donate a £1/$1 Show you care...

Awareness Week

...themes are: Selfie Sunday – snap and share a pic of you & your child (or yourself if you are an adult with a rare chromosome disorder) – perfect for...

Where can I get help and support when the Unique team is not available?

...EMOTIONAL SUPPORT: CALL The Samaritans on 116 123 (any time, night or day, throughout the year) EMAIL The Samaritans: jo@samaritans.org (24hr response time) More information about The Samaritans here: https://www.samaritans.org/how-we-can-help/...

Unique's Funday Friday | 19th June 2020

...2nd and 3rd place.  9am (BST) Quiz:  https://www.virtualquizevents.com/quiz/friday-funday-15-minute-quiz/ 5pm (BST) Quiz: https://www.virtualquizevents.com/quiz/friday-funday-15-minute-quiz-2/ Mindfulness Taster Session Join in our Mindfulness Taster Session on Zoom – from 19.45 to 20.30 BST on...

Terms & Conditions

...other participants when using them. If you have any questions please email marion@rarechromo.org Code of Online Conduct By participating in any social network, chat room, message board, or other interactive...

Join Us

...pregnant and have received a prenatal diagnosisA family member has the conditionOther (please specify) Email Phone Address Town/City County/State/Province Postcode/Zip Country Chromosome/gene and type of disorder e.g. deletion, duplication, variant...

Glossary

...be random. SMC a supernumerary marker chromosome – see Marker Chromosome sSMC a small supernumerary marker chromosome – see Marker Chromosome SNP single nucleotide polymorphism. This is the substitution, in...

Advertising Policy

The Unique website www.rarechromo.org does not carry advertising and none of the space or content has been sold or leased to any third party for the purpose of generating revenue....

Resources

Do take a look around the site but to help you find your way around, here are quick links to some of our most popular pages:...

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Annual Reports

...the above documents please contact:To view the above links you may need Adobe Acrobat Reader. This is available as a free download from the Adobe web site if you haven’t...

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Get in Touch Your name Your email Your message This site is protected by reCAPTCHA and the Google Privacy Policy and Terms of Service apply....

Equal Opportunities Policy

Introduction Unique – Rare Chromosome Disorder Support Group is fully committed to equality of opportunity and service provision and is opposed to all forms of unfair or unlawful discrimination. We...

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The Be-Well Checklist: Helping parents, carers and professionals to change the behaviour and improve the wellbeing of people with severe learning disability and complex needs.

...the presentation:   Findings from high quality research studies in genetic syndromes www.findresources.co.uk Cerebra’s Pain guide for parents www.cerebra.org.uk/download/pain-a-guide-for-parents/ Research papers (freely available research papers – search by name) www.researchgate.net...

Covid-19 Vaccinations (UK Only)

...from Contact: https://contact.org.uk/advice-and-support/covid-19/children-with-health-needs/covid-vaccination-your-questions-answered/ More information about the Covid-19 vaccination programme is available here: https://www.gov.uk/government/publications/priority-groups-for-coronavirus-covid-19-vaccination-advice-from-the-jcvi-30-december-2020/joint-committee-on-vaccination-and-immunisation-advice-on-priority-groups-for-covid-19-vaccination-30-december-2020#fn:3 Why you should register with your GP as a carer: https://www.carersuk.org/help-and-advice/health/looking-after-your-health/your-gp Unique’s Carers Wellbeing guide: https://www.rarechromo.org/practical-guides-for-families/...

Translating Unique's Chromosome Disorder Guides

...Swedish guide in its long and short versions, and I hope more will follow! Best wishes, Kristina Photo credit: HANS ODEBERG See our chromosome and gene disorder guides at https://www.rarechromo.org/disorder-guides/...

New general advice regarding Coronavirus (COVID-19) for patients with rare genetic disorders

...you are outside the UK, please check your country’s guidelines (e.g. for the US: https://www.cdc.gov/coronavirus/2019-ncov/index.html ). Please see the WellChild website for a clear 10 point plan and information specifically...

Christmas......Sorted!

Buy your Christmas cards from Unique and you’ll be directly helping those with rare chromosome and gene disorders. We have brand new, colourful and very festive designs this year, something...

Farewell Gill

...families, In September 2023, Peter and I celebrated the 33rd birthday of our firstborn child, Lucy (“Lulu”) – hard to believe – [see accompanying photo of Lulu last Christmas] and...

IMPaCCT study: Investigating the impact of COVID-19 on caregivers and patients

...about the current needs expressed by patients and caregivers. If you have any questions please do not hesitate to get in touch at Julie.mcmullan@qub.ac.uk or visit https://www.qub.ac.uk/sites/RareDisease/News/IMPaCCtStudy-investigatingtheimpactofCOVID-19oncaregiversandpatients.html Survey link: https://www.surveymonkey.co.uk/r/IMPACCTsurvey...

Unique supporter Adam Astill on how we help families

...30,000 people worldwide costs about 300 Grand. I mean that’s your average Premiership footballer’s weekly wage. Find out more and donate by going to Unique’s website www.rarechromo.org . Thank you!...

Gift Ideas and Useful Websites

...you thoroughly check them out (including making sure the products are safe) before you buy anything or take any of the advice given. Click Here to go to the list...

National Conversation on Rare Disease: Make Sure Your Voice is Heard

...face. Please take the opportunity to complete the survey using the link below by Friday 29th November 2019 and make sure your voice is heard. The survey link is: https://dhsc-mail.co.uk/form/Sx1iaZDJ/12fe439d08333dcf0e23be36/...

Understanding Conversation - XXX, XYY or XXY Syndromes

...the phone. To learn more and register interest in the study, please click here to take a look at the researchers’ website. If you have any questions, please email them...

The CoIN Study

Covid-19 impact on wellbeing of families of children with rare neurogenetic disorder The CoIN Study will track changes in wellbeing during and after the pandemic in order to understand the...

What is an Array-CGH?

https://youtu.be/s7WWd7zsCdU In order to obtain a diagnosis of a rare chromosome disorder, many will have undergone an ‘array CGH’ test, or an ‘array’ for short, but what is an array...

Join our Team: Unique are Recruiting!

...www.rarechromo.org Applications in writing, with full CV, on email to craig@rarechromo.org to Craig Mitchell, Chief Operating Officer, Unique, by 5pm on Monday, June 7th 2021. Interviews will take place during...

New information guide on 22q11 deletion syndrome now available in Lithuanian thanks to international teamwork

...undiagnosed disorders including those associated with intellectual disabilities and neurodevelopmental disorders. ESHG-Y is the European Society of Human Genetics Young genetics specialists members network. View our information guides at www.rarechromo.org/disorder-guides...

New Webinar: Delivering Different/Difficult News

...would like to book to attend the webinar, this is the link: https://www.eventbrite.co.uk/e/delivering-different-news-to-families-by-healthcare-professionals-tickets-245707306167 Please note. This is not being run by Unique. Should you have any questions, please email esther.mugweni@ihv.org.uk...

Update: Down Syndrome Bill

...click here to read a copy of the letter or post the following into your browser: www.rarechromo.org/files/dsletter21 In addition to Unique, the other organisations to have signed the letter are:...

News from Georgia

...such a dedicated group of academics! As usual, all guides will be placed on our website at www.rarechromo.org/disorder-guides and will be freely available to anyone who may find them helpful....

Unique's Christmas Colouring Competition!

...small prize. 5 runner-ups will have their colouring competitions pictures posted on Unique’s website and social media pages. Any questions? Email Arti at arti@rarechromo.org Happy Colouring! Unique’s-Christmas-Colouring-Competition (JPEG)Download Unique’s-Christmas-Colouring-Competition (PDF)Download...

Invitation to participate in study about NIPT (Non-Invasive Prenatal Testing)

...Participants are eligible to take part whether they accepted or declined NIPT. For further information please contact the researchers: Ruth Horn (ruth.horn@ethox.ox.ac.uk) or Adeline Perrot (adeline.perrot@ethox.ox.ac.uk) Or go to www.ethox.ox.ac.uk/Our-research/research-projects/nipt...

Scaling the Heights...

...to do something to help a little bit.” A massive thank you to Leo and Katie and GOOD LUCK!! You can support Leo at: https://www.justgiving.com/fundraising/katie-fox16 Leo – a true #shiningstar...

UK Rare Diseases Framework

...to address the health inequalities, improve the quality and availability of care, and improve the lives of people living with rare diseases. See the UK Rare Diseases Framework here: https://www.gov.uk/government/publications/uk-rare-diseases-framework...

Guidance on shielding and protecting people who are clinically extremely vulnerable from COVID-19

...be made for education to continue at home. Please click this link below to view the latest guidelines: https://www.gov.uk/government/publications/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19/guidance-on-shielding-and-protecting-extremely-vulnerable-persons-from-covid-19 If you are unsure if your child is clinically extremely vulnerable,...

Rare Chromosome Disorder Awareness Day - Quiz for Professionals

...support Unique. To participate, follow the instructions below: Visit Flora’s Just Giving page and make a donation: https://www.justgiving.com/fundraising/RareChromoQuizForPros Complete the quiz below and email your answers to Flora at Flora.joseph@nhs.net – if you...

Unique over Christmas and the New Year

...will reopen on the 4th  January 2021. During this period, you may find the information on our website useful: www.rarechromo.org. We will still have some great content going out across...

Volunteers Needed: Manchester/North West UK

...to acknowledge and appreciate the time and expertise you’re sharing with them. Interested in getting involved? Find out more by visiting their website (www.mrcc.org.uk/education-engagement/werrare/) and send in your expression of...

Martina & Lucy

...and shares their story about how Unique offers hope to families by showing them that they are never alone. Find out if Unique can support you and your family at www.rarechromo.org...

Animation: What is an arrayCGH?

What is an Array CGH In order to obtain a diagnosis of a rare chromosome disorder, many will have undergone an ‘array CGH’ test, or an ‘array’ for short, but...