What do they offer?
Rett UK provide free support, advice and resources to anyone affected by Rett syndrome. Amongst their services their Family Support Team offer: help with diagnosis, support groups, advocacy, getting started with communication support and training, regional roadshows, accessing a specialist Rett syndrome clinic, as well as bereavement support.
What is Rett syndrome?
Rett syndrome is a rare neurological disorder affecting mainly females and very few males. It is present from conception and usually remains undetected until major regression occurs at around one year of age, when children may lose acquired skills and become withdrawn. Genetic but largely not inherited, Rett syndrome is usually caused by a fault on a gene called MECP2 which is found on the X chromosome. People with Rett syndrome have profound and multiple physical and communication disabilities and are totally reliant on others for support throughout their lives.
Rett syndrome was first described in 1966 by the Austrian doctor, Andreas Rett. It could occur in any family and affects approximately 1 in 10,000 girls born each year and 1 in 40,000 boys.
Almost all cases of Rett syndrome are caused by a mutation (change in the DNA) in the MECP2 gene, which is found on the X chromosome (one of the sex chromosomes). This gene contains instructions to make a particular protein (MeCP2) that is vital for brain development. The gene abnormality prevents nerve cells in the brain from working properly. Almost all people with Rett syndrome have no history of the disorder in their family, and the mutation has happened spontaneously. Often parents feel that they must have been responsible for their child’s condition but this is not true. Because the mutation happens spontaneously there is nothing that the parent has or has not done, it is just a random new mutation.
Raising awareness
Rett UK know there are more people with Rett syndrome who either haven’t been given the correct diagnosis as well as families who have a diagnosis but don’t yet know about their charity and the free services they provide. They are particularly keen to reach black, asian, and minority ethnic (BAME) families who are underrepresented in their community despite the prevalence rate of Rett syndrome being the same for all ethnicities – they are concerned there are families who are missing out on vital information and support, that in some cases can be life-saving.
Take a look at their leaflet for further information.
Their Family Support team can be contacted by:
Telephone - 01582 798 911
Email - support@rettuk.org
Website - www.rettuk.org or
Facebook - https://en-gb.facebook.com/RettUK/
There is also a free, quarterly magazine, 'Rett News' full of news and information relating to Rett syndrome. The latest edition can be downloaded [here]
|
