Rett syndrome is a rare, genetic, neurological disorder affecting mainly females (1:10,000) and very few males. It is present from conception. After a period of ‘near normal’ development, the child experiences a regression in key skills, usually mobility, speech and hand use between the ages of one and two years. The child may appear very withdrawn during this stage and this often leads to a misdiagnosis of being on the autistic spectrum. Multiple comorbidities appear post regression including epilepsy, breathing disruption, scoliosis, gut and bowel problems. Whilst the disorder is genetic, in the majority of cases it is 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 learning disabilities. They are totally reliant on others for support throughout their lives, yet they are radiating love and enjoying their life to the fullest.
Rett Syndrome Europe is a small, not for profit, voluntary led organisation established in 1994 (reorganised in 2001) to serve the interests of families across Europe affected by this devastating disorder. The board are all parents of people with Rett syndrome.
A recent development of Rett Syndrome Europe, The Scientific Advisory Board, brings together some of the most well known and active scientists, researchers and therapists in Europe. Working together for the benefit of our families.
Rett Syndrome Europe currently has 25 member countries; either represented by a formal organisation or an individual. We welcome new applications and will support individuals who wish to formalise support in their country.
Lots of important and useful resources for families seeking to understand more about how Rett syndrome affects their daughter or son, what they can do to help them and find support for themselves. We aim to bring you regular updates not just from Europe but from around the world.
To mark Rare Disease Day 2025 we are sharing the amazing adventures of Selena – an very inspiring young lady with Rett syndrome and her equally wonderful family! Selena's Story 28.2.25Download
Research updates, events and family focus stories plus an opportunity to hear from Tom Pulles and Stephanie Kim from Acadia on 4th March 2025, 7pm CET – you will need to register first to join …
We are delighted to share the very positive update from Taysha on their gene therapy programme for Rett syndrome. Ten participants have now received the therapy which has generally been well tolerated with no serious …
Many thanks to Usree and Kalika for sharing this amazing account of their trip across several European countries and India during the monsoon season! It is a such an interesting and inspirational reading but also …
You can read the full press release here . They expect it will be 10-14 months before a decision is known. You might also like to read this plain language summary Trofinetide Treatment Demonstrates a …
You can read their latest letter to the Rett community here. All patients dosed are generally tolerating the therapy well with no serious adverse side effects. Third patient in the adult cohort has been dosed …
We are delighted to be able to share the latest update from the Taysha gene therapy programme. Highlights include the first person who received the higher dose has had no serious adverse side effects, they …
In the latest update published today we learn that there have been no serious adverse effects from the treatment in both the adult and paediatric trials so far. Both groups are reporting improvements in seizures, …
Taysha today shared updates on their REVEAL Adolescent and Adult Study. Here is the letter to the community. Also read their press release though as there is much more detail there about the improvements seen …
