Rett Syndrome is a rare, neurological condition which most often strikes previously healthy young children between their first and second birthday leaving them with multiple disabilities and medical complexities for life.

It is estimated that Rett Syndrome affect 1:10000 children, the symptoms can appear quickly or take months to develop.

Most children will lose the ability to speak and use their hand at an early age. Some never walk or even sit. Some do however more than half of those that learn to walk will lose their mobility in their teens.

There are currently no approved treatments for Rett Syndrome either to slow the progression of the condition or manage the symptoms.

Since 2010 Reverse Rett have delivered over £8 million to Rett Syndrome research in the UK and internationally. They work to identify and register every affected individual, provide clinical trial support services, fund ongoing academic research programs and provide essential information to families and caregivers.

Why does Reverse Rett fundraising matter to us as a family?

Our beautiful girl Violet is 1:10000 with Rett Syndrome.

To receive that diagnosis for our baby girl was devastating for us as a family, we had never heard of Rett before and the unknown can be terrifying!

Imagine the symptoms of Autism, Cerebral Palsy, Parkinson's, Epilepsy and anxiety disorders all in one 5 year old little girl who fights the battle relentlessly every day whilst at the same time being silenced by her condition as she is now unable to speak.

Rett Syndrome has 4 stages:

1. Early Signs

At first, the child will appear to develop and grow normally for at least 6 months. There may be subtle signs of Rett syndrome before the child is recognised as having a problem (especially with hindsight).

Stage 1 is sometimes described as "stagnation". Symptoms include:

low muscle tone (hypotonia)

difficulty feeding

unusual, repetitive hand movements or jerky limb movements

delay with development of speech

mobility problems, such as problems sitting, crawling and walking

lack of interest in toys

These symptoms typically begin from 6 to 18 months and often last for several months, although they can persist for a year or more.

Stage 1 can often go unnoticed because the changes occur gradually and may be subtle.

Stage 2: regression

During stage 2, known as "regression" or the "rapid destructive stage", the child starts to lose some of their abilities. This stage usually begins between the ages of 1 and 4 and may last for any time from 2 months to more than 2 years.

The child will gradually or suddenly start to develop severe problems with communication and language, memory, mobility, co-ordination and other brain functions. Some of the characteristics and behaviours are similar to those of autism.

Signs at this stage include:

loss of the ability to use the hands purposefully – repetitive hand movements are often difficult to control and include wringing, washing, clapping or tapping

periods of distress, irritability and sometimes screaming for no obvious reason

social withdrawal – a loss of interest in people and avoidance of eye contact

unsteadiness and awkwardness when walking

problems sleeping

slowing of head growth

difficulty eating, chewing or swallowing, and sometimes constipation that may cause stomach aches

problems with heart rate or heart rhythm

Later on during regression, the child may experience periods of rapid breathing (hyperventilation) or slow breathing, including breath-holding.

Stage 3: plateau

Stage 3 of Rett syndrome can begin as early as 2 years or as late as 10 years. It often lasts for many years, with many children remaining in this stage for most of their lives.

During stage 3, some of the stage 2 symptoms may get better – for example, there may be improvements in behaviour, with less irritability and crying.

Symptoms at this stage include:

seizures

irregular breathing patterns may get worse – for example, shallow breathing followed by rapid, deep breathing, or breath-holding

Gaining and maintaining weight can also be difficult to achieve.

Stage 4: deterioration in movement

Stage 4 can last for years or even decades. The main symptoms at this stage are:

Development of a spinal curve (the spine bending to the left or right side), known as scoliosis. This is more likely from the age of 6 years, and the risk reduces after puberty

muscle weakness and spasticity (abnormal stiffness, particularly in the legs)

losing the ability to walk

Communication, language skills and brain function do not tend to get any worse during stage 4. The repetitive hand movements may decrease and eye gaze usually improves.

After a recent hospital trip we were told that Violet is now in Stage 4 and has developed scoliosis which is affecting her mobility, something else for our girl to have to deal with.

Violet has been silenced by her condition but Steve and I will forever be her voice, we will shout from the rooftops to raise awareness of this cruel condition and will be raising funds for Reverse Rett to hopefully bring treatments to the UK, not just for Violet but for all the other children and families who are affected by Rett.

Keep an eye on this page for all the fundraising activities that will be taking place throughout October which is also Rett Syndrome Awareness Month.

Thank you for reading

Natalie and Steve xx