Join us to bring awareness, celebrate and educate about chromosome and gene disorders. Help us #shinebrighttogether for all those affected by rare chromosome and gene disorders.
Chromosome disorders are classified into two main types; numerical and structural. Numerical disorders occur when there is a change in the number of chromosomes (more or fewer than 46). Examples of numerical disorders include trisomy, monosomy and triploidy. Probably one of the most well-known numerical disorders is Down syndrome (aka trisomy 21). Other common types of numerical disorders include trisomy 13, trisomy 18, Klinefelter syndrome and Turner syndrome.
Structural chromosome disorders result from breakages within a chromosome. In these types of disorders there may be more or less than two copies of any gene. This difference in number of copies of genes may lead to clinical differences in affected individuals.
Please get involved and help to spread the word.
This week each day has a theme….
To help you get involved, each day was given a special theme to help you get involved and spread the word in your own way:
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 social media
Motivating Monday – a day to shout about your achievements or your child’s achievements – this really helps motivate others
Telling Tuesday – a day to educate tell people about rare chromosome and gene disorders and what life’s like
Warrior Wednesday – recognise someone (a ‘chromo warrior’) who battles the odds or has gone the extra mile to support you or your family
Thankful Thursday – focus on the positives: let everyone know what you have to be thankful for
Funday Friday – have some fun spreading awareness and doing some fundraising: eat cakes, dress down, run, walk or push, skydive…. . Get involved!
For more details about the themes of the day, click here
In August, the annual Mersea Island Festival will be held at Essex Outdoors Mersea. The festival brings together young people and adults with or without a physical or learning disability to take part in activities that help build confidence. Families, youth clubs and groups for young disabled people are all welcome. To find out more visit
Chromosome Disorder Outreach (CDO) provides information on chromosomal conditions and family matching. Contact CDO for more information about how to connect with other families.
Chromosome Disorder Outreach
PO Box 724
Boca Raton, FL 33429
Family Helpline: 561-395-4252
E-mail: [email protected]
Web site: http://www.chromodisorder.org
Unique is a source of information and support for families and individuals affected by rare chromosome disorders. This organization is based in the United Kingdom, but welcomes members worldwide. Unique also has a list of Registered Chromosome Disorders.
Unique - Rare Chromosome Disorder Support Group
PO Box 2189
Surrey CR3 5GN
Telephone: 440 1883 330766
E-mail: [email protected]
Web site: http://www.rarechromo.org