Raising awareness for Cure Rett and Rett syndrome

So, having pledged to raise money for Cure Rett throughout 2015 the over-riding questions I get off people are a) What is (or who are) Cure Rett and b) What is Rett syndrome?

I’ll be honest, until the start of this year I hadn’t heard of Rett syndrome. It’s obvious that there needs to be more awareness in this country. So what I’ll be attempting to do with this blog post is to answer the questions that I keep getting asked. Now, obviously, I’m no expert and a lot of my research has been done via the web so if you know about the subject and see anything that appears to be wrong please let me know.

Let’s get down to it.

Who are Cure Rett?

Cure Rett was founded in 2012 with the aim of accelerating research and empowering families. curerett.org works closely with families of children with Rett syndrome, empowering them to face the future with hope and strength, and to work together to develop treatments and find a cure. Along with their partner charity rettsyndrome.org in the USA, they are constantly striving to raise funds and awareness of the condition, and to fund the research that will one day allow them to say ‘we have cured Rett syndrome’.

As parents of children with Rett Syndrome, they understand the challenges faced in coming to terms with a new diagnosis. They are there to empower all families affected by Rett syndrome and to provide a network of support, advice and hope.

Rett Syndrome is a rare, genetic neurological disorder that occurs almost exclusively in girls. It affects nearly every aspect of the child’s life: speaking, walking, eating – even breathing. But there IS hope; scientists are close to finding treatments and a lasting cure for the condition.

Their mission is to fund research for treatments and a cure for Rett syndrome while enhancing the overall quality of life for those living with the condition. They do this by providing support, advice and links to key services.

At curerett.org they advocate for, and raise awareness about, individuals with Rett syndrome. They do this primarily so the scientific and medical community, educators, care givers and the general public can know more, understand more, and be significantly more motivated to help. There are many ways to help, but it all starts with awareness and advocacy.

curerett.org fund and accelerate the research that is essential to finding a cure for Rett syndrome, along with developing treatments that will make the lives of people living with Rett, richer, and more free from pain and discomfort.

Although there is currently no cure for Rett syndrome, scientists are working on reversing the syndrome in the laboratory. Unlocking Rett syndrome could hold the key to unlocking a cure for other neurological conditions, such as Alzheimer’s, Autism, Bipolar Disorder, Parkinsons and Schizophrenia.

Soure: curerett.org/cure-rett and curerett.org/rett-syndrome

What is Rett syndrome?

So, I touched on Rett syndrome briefly while explaining about Cure Rett but here I will go a bit more deeper into explaining the condition.

Rett syndrome is a rare non-inherited genetic postnatal neurological disorder that occurs almost exclusively in girls.

It affects every aspect of life; speaking, walking eating and even breathing.

Rett syndrome is caused by a spontaneous and random genetic mutation which, in except the very rarest of circumstances, is not passed on from parent to child.

Who does it affect?

Rett syndrome affects approximately 1 in 10,000 females (it is rarely seen in males).

What causes Rett syndrome?

In almost all case, Rett syndrome is caused by a mutation, or change in the DNA, of the gene named MECP2, found on the X chromosome.

This gene contains the instructions for the body to make a protein that is vital for brain development. The gene mutation prevents nerve cells in the brain from functioning properly.

Almost everyone with Rett syndrome will have no history of the disorder in their family.

The Stages:

Stage 1;

Stage one symptoms of Rett syndrome appear after an early period of a seemingly typical development.

At around 6 – 18 months, a stagnation of skills is apparent, followed by a period of regression. These initial signs can be missed due to the subtle slowing of development at first.

Stage 2;

Stage two symptoms usually begin between ages 1-4. Communication skills are lost or significantly reduced, along with purposeful hand use.

Other symptoms include slowing of the rate of head growth, disorganised breathing, characteristic hand movements (such as wringing, washing or tapping), irritability and difficulties in walking.

Some girls may display autistic-like symptoms, such as loss of social interaction or self-injurious behaviours.

Stage 3;

Stage three symptoms can begin at any age between 2 and 10, and can last for years.

Some things can become more difficult, such as worsening motor problems and seizures. While other symptoms can marginally improve, including irritability and basic levels of communication (such as maintaining eye contact).

Girls in the stage often have increased attention span and alertness, and show more interest in the world around them.

Stage 4;

Stage four symptoms can last for decades, and include reduced mobility, curvature of the spine and muscle weakness.

However, cognition, communication skills and hand skills tend not to decline, whilst eye gaze improves.

As a movement disorder Rett syndrome is particularly cruel. In the simplest of terms, Rett syndrome stops you from doing what you want to do, when you want to do it. Your body does not obey the commands of your brain.

How is Rett Syndrome diagnosed?

If your child’s symptoms suggest Rett syndrome, a blood test can be carried out to detect the genetic mutation associated with Rett. As this change in the MECP2 gene is not found in every child with the condition, confirming the diagnosis can be difficult. Sometimes, failing to find the mutation does not rule out the condition.

A paediatric neurologist or specialist should be consulted to confirm a clinical diagnosis of Rett syndrome, using a specific set of guidelines.

Key Facts;

Rett syndrome has a ‘spectrum’. Symptoms are determined by location, type and severity of the mutation. As such, two girls with the same mutation may develop quite differently.

Girls and women with Rett syndrome are now known to have much higher levels of mental capacity than previously thought. Studies have shown that girls and women living with Rett syndrome are far more capable than they were given credit for in the past.

Rett syndrome is a leading genetic cause of severe disability in females. It is as prevalent as Cystic Fibrosis, yet it is still relatively unknown outside of the scientific community.

By restoring the full MECP2 protein in the laboratory mouse, researchers have proven that it is possible recover brain function, leading to a cure.

Rett syndrome has been described as a neurodevelopmental, not neurodegenerative condition, meaning there appears to be no underlying damage to the brain as a result. It may be possible to completely reverse Rett syndrome.

Source: curerett.org/rett-syndrome

It looks like, scientifically speaking, they are making great in roads in to potentially curing the condition which could lead to further development of treatment for other conditions as well. I’m proud to be fundraising for Cure Rett. I’ve got a lot going on which you can find at:


I’ve also got a fundraiser going on in July as well as plenty of other fundraising things going on (spot the balls/guess the marathon finish time etc).

You can help fund research into Rett syndrome by visiting my fundraising page at:


I want to help and I hope you can help too by donating to my Just Giving page.

Here’s hoping we can make a difference.


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