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Unique - Rare Chromosome Disorder Support Group

For anyone who has a child/grandchild with an RCD, or adult with an RCD or associated professionals. Unique is a small registered charity providing much needed help and information to families with children born sick and disabled with rare chromosome disorders.

Each year many thousands of babies are born with these disorders which are caused by them having parts of one or more of their chromosomes missing, extra or rearranged. They are often developmentally delayed and might have medical issues and this can put lots of stress and strain on their families. Although rare, collectively the disorders are more common than even Down's Syndrome but despite that doctors often have very little knowledge about them, leaving parents feeling isolated and confused. This is where Unique comes in!

We are able to listen to their parents & carers, answer their questions and give them all the help they need. Our services include:

Structural disorders include:

* A 'Listening Ear' telephone and email help service - the first point of contact for parents, doctors and other professionals

* Information guides to over 150 rare chromosome disorders, a resource not available anywhere else

* Conferences and study days for parents and doctors to learn more about these conditions

* A specialist website and a regular members magazine

* A network of over 160 local volunteer contacts helping families in their area

* Our family matching service which puts families in touch with each other so they can help each other through the difficult times.

* Social networking resources, including our private Facebook cafe

* A welcome pack of resources available through our Family Support Officer The types of chromosome disorders included are as follows:

* deletions and microdeletions

* duplications and microduplications

* ring chromosomes

* pericentric and paracentric inversions

* balanced reciprocal translocations

* unbalanced translocations

* Robertsonian translocations

* balanced insertions

* X:autosomal or Y:autosomal translocations

* and any mosaic forms of these disorders

Numerical disorders include:

* monosomy, trisomy

* tetrasomy, pentasomy

* triploidy, diploid triploid mosaicism

* small supernumerary markers chromosomes (sSMCs)

* isodicentric chromosomes

* 47,XXX and 47,XYY

* the rarer sex chromosome aneuploidies, such as: 48,XXXX, 49,XXXXX, 48,XXYY, 48,XYYY and 49,XXXXY

* any mosaic forms of these disorders Miscellaneous disorders include, uniparental disomies (UPD) and X-inactivation etc.

 

Who to contact

Contact Name
Dr Beverly Searle
Contact Position
CEO
Telephone
01883 330766
E-mail
info@rarechromo.org
Website
www.rarechromo.org

Where to go

Address
PO Box 2189
Caterham
Surrey
Postcode
CR3 5GN

Other Details

Availability

Referral required
No

Local Offer

Description

Our service/organisation is part of the Local Offer, please contact us for further information

SEN Provision Type
Targeted

Bury Council do not promote or endorse any of the services listed in this Directory. For more information on this please read our disclaimer here.

This page was last updated on: 09/07/2019

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