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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...

Data Protection & Privacy Policy

...our chosen online fundraising partners such as Virgin Money Giving and Justgiving, who will collect your personal information when you set up an online fundraising page to collect sponsorship. We...

Professionals

Support Us

Mental health & wellbeing

...British Association for Counselling and Psychotherapy approved therapists can be found at the following link: www.bacp.co.uk/search/Therapists GENERAL SUPPORT There are also many organisations that you can turn to for support;...

Annual Reports

...Please use the link above to view our online accounts for the financial year ending 31 March 2023. The report contains details on how Unique is run and how and...

Gift ideas and useful websites

...the USA. https://justlikeyoudolls.com/dolls with cochlear implants, etc US based Online shops for switch adapted toys Inclusive Technology inclusive.co.uk/hardware/switch-adapted-toys Liberator liberator.co.uk/products/learning-and-inclusion-aids/switch-adapted-toys Other items/useful websites Living made easy livingmadeeasy.org.uk/children/play-%26-leisure-31470845 1309177 The play...

Families

Terms & Conditions

These Terms and Conditions apply to everyone using the Unique Members Area including social networks such as Facebook and Twitter. Unique believes that online social networks, chat rooms, message boards,...

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...

Awareness Day 2023

...be a huge success….. Big Blue Bake Sale Kit and Poster https://www.rarechromo.org/files/Bakesalekit.pdf To download details about the Baking Kit, plus a poster to use for your bake sale, just click...

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

...have a list of other crisis services here: https://www.mind.org.uk/information-support/guides-to-support-and-services/crisis-services/helplines-listening-services/ You may also find Unique’s practical support guides helpful, in particular, our Carers Wellbeing and Self-Isolation guides: https://www.rarechromo.org/practical-guides-for-families/ NEW for 2022:...

Unique Family Members' Area Registration

...omit any zeroes (0) at the start of the number. Choose your own online name and password. Not yet a registered Unique family member? Just go to the Become A...

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....

Equal Opportunities Policy

...will be given a copy of this policy and appropriate mechanisms will be put in place for monitoring purposes. In addition, it will be displayed on the organisation’s website, www.rarechromo.org...

Awareness Week

...Click here to order edible rice paper toppers from www.mycupcaketoppers.co.uk/products/unique If you need some help or guidance, just contact Caroline on email to caroline@rarechromo.org Competition: Colour in Gene the Bear!...

Home

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.

...https://authors.elsevier.com/a/1c88o6EIwShwqA       Feedback Survey for the checklist https://www.surveymonkey.co.uk/r/RJKBP8W   Vagus Nerve Stimulation Could Help Treat Behavior in PWS   www.fpwr.org/blog/study-shows-vagus-nerve-stimulation-could-help-treat-behavior-in-pws Cerebra Legal Rights Service   www.cerebra.org.uk/get-advice-support/legal-entitlements-problem-solving-project/   From...

NEW interactive online patient tool for people with rare diseases to better understand their risk of Covid-19

A new patient interactive tool that allows people with rare diseases to better understand their risk of Covid19 has now been released. It is the result of a collaboration between...

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/...

Genomics England Newborn Genomes Programme: help decide on principles for what conditions to look for

...deciding what principles should be used to choose conditions that will make up the initial list that babies enrolling in the pilot will be screened for. Online Workshops GEL are...

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

...rate is much lower than in older people. This is a rapidly changing situation with new guidance issued regularly as things evolve. Please check NHS guidelines available here: www.nhs.uk/conditions/coronavirus-covid-19/ If...

Unique Volunteering Experience - Joe Butt

...The online guides made by the team at Unique are not only helpful to the families affected by rare genetic conditions, but they are also incredibly helpful to people working...

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...

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...

IMAGINE ID: New Participants Urgently Needed

...the question parents most often ask when their child has a genetic condition; “So what does this mean for my child?” What is involved? Parents complete an online questionnaire (or...

Unique supporter Adam Astill on how we help families

...we can further grow our knowledge and understanding of these rare conditions. Just visit www.rarechromo.org/donate and together we can help more families like our festive shining stars below. Alternatively, 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...

Take Part: Research into parents’ experiences of discussing a genetic diagnosis with a young person with a learning disability

...online and I can arrange the interviews at a time convenient to you. The interviews would be recorded so that I can analyse the data and draw out any relevant...

New Research Study 16p11.2 duplication, 22q11.2 deletion and 1q21.1 deletion

...any further information, please contact Hannah via email- thomash66@cardiff.ac.uk or telephone- 02920 688757. Note. This study is not being run by Unique. Please address any queries to the research team....

Study on 16p11.2 deletion or duplication and 22q11.2 deletion or duplication

...your family can still participate in the study. What is involved with taking part? We will ask the parent to complete an online questionnaire about the child(ren) We will also...

New Research Study: Children with 3q29 deletion or duplication

...activities, and answer some questions from us. We will also invite you to fill out some online surveys. We would also like to take a blood sample from everyone who...

New Adult Sibling Research Opportunity

...to their affected brother or sister Able to take part in an interview (online, phone or face-to-face) and provide consent for themselves Please pass on the information to anyone in...

Intellectual Disability and Mental Health: Assessing Genomic Impact on Neurodevelopment (IMAGINE 2)

...the end of your participation, summarising our observations of your child. You will also see our colleagues at UCL where you will be asked to complete an online interview and...

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...

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!

...the world 🌍 To enter: Please donate a minimum of £1 at www.rarechromo.org/donate with the reason for donation as ‘Christmas Colouring Competition’ Take a photo or scan a copy of...

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...

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...

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...

Farewell Gill

...avoid bias, Beverly was appointed to the full-time role with Marion Mitchell providing part-time support. At 1,200 member families, the website www.rarechromo.org was launched and, in one sense, with Beverly,...

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/...

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...