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What is Rett syndrome?
I had never heard of Rett before 2015. Neither had my family doctor ...
“Imagine the symptoms of autism, cerebral palsy, Parkinson’s disease, epilepsy, and anxiety disorder… all in one little child. Rett syndrome is a serious, lifelong neurological disorder that is caused by random mutations in a gene called MECP2”
Rett Syndrome is characterized by four stages. In the first stage, birth and development seem typical. At around 6-18 months the second phase, known as Regression occurs where there is significant loss of skills in speech, mobility and use of hands. The third stage usually occurs between 2-10 years old and is usually a Plateau phase where regression stops and the child becomes less irritable. The fourth stage may occur over years or even decades and is characterized by more complications from conditions like scoliosis, seizures, movement disorders worsening, loss of mobility, breathing problems etc.
The main hallmark of Rett Syndrome is a repetitive hand wringing motion.
Historically, Rett Syndrome was largely misunderstood; however with the use of eye gaze controlled speech generating devices, many individuals with Rett have shown to have a much higher cognition than previously understood, demonstrating age appropriate responses and understanding of their world around them. With more accessibility and inclusion in school settings, many individuals have shown comprehension and are progressing in literacy skills and many other subjects. Essentially, Rett Syndrome traps these incredible, bright children in bodies that do not do their bidding. Eye-gaze technology has opened the door to communication and provided a much improved quality of life for many living with Rett.
It was first identified by Dr. Andreas Rett, a neurodevelopmental pediatrician from Austria who noticed many similarities in several of his patients. He first wrote about it in 1966. In 1983 it was first written about and identified as Rett Syndrome named so after Dr. Rett by Dr. Bengt Hagberg who had also noticed the same symptoms in some patients. In 1999 the gene responsible for Rett, MECP2, was identified through the work of Dr. Huda Zoghbi at Baylor College of Medicine. It is an X linked mutation which explains why it is mostly found in females, although males can have it as well.
Advances in medical research and treatments have also boosted the lives of individuals living with Rett Syndrome over the past 30 years; however much more can be done. It was reversed in mice in 2007. The first gene replacement therapy clinical trial for Rett Syndrome began in 2023 in Quebec, Canada and the first treatment to reduce symptoms for Rett became available in 2023. There is hope for a better future and a possibility for a cure and improved treatment in the future as medicine and science advances.
Rett Syndrome is a lifelong debilitating condition that brings a host of complications and challenges, yet also enlightens those who love them, to a world of love, perseverance, courage, savouring joy and a new way to look at life.
Mountain top views come at a price, and living with Rett Syndrome is no less different; the climb can be brutal at times, but the view is worth it all.