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Rett Syndrome - A different life

The first 9 months of Lizzie's life were the "normal" ones, but that didn't last long. Lizzie never developed words. I once got a "Ma-Ma", but that was it. At 6 months, when floor sitting, she had already developed the fine finger control to be able to pick my dressmaking threads up off the carpet. This skill soon disappeared. By 13 months she had developed a squint in her left eye. She never crawled, stood, or walked. The catch-all diagnosis we were given for her condition was "Global Developmental Delay".

 At around 20 months Lizzie started to pull her hair out, although we couldn't understand why. I cut her hair short so that she could not grip it to pull.  She stopped smiling when I sang to her, although I couldn't understand why. I stopped singing. Lizzie became very sad. We all became very sad, as we could not understand what was happening to her. This was the regressive stage.

At 22 months Scoliosis due to low muscle tone was confirmed. Shortly afterwards Lizzie was cast for her first spinal brace, which she needed to wear nearly 24/7. By March 2003 Lizzie had developed a repetitive hand-wringing pattern which led to the final diagnosis of Rett Syndrome, confirmed by genetic testing.

Rett Syndrome is the term used for a range of genetic mutations within the sequence of a specific gene - MecP2. This gene regulates normal developmental progress of the autonomic system in the body.   Mutations within the MecP2 sequence can have a range of devastating consequences on how the autonomic system works. Lizzie's mutation is MecP2- 467 insertion C out of many variants.

The news with the diagnosis was that this was a permanent condition, with no hope of any change in the future. At that point denial was a pointless waste of effort. That left acceptance, and with it eventually came the desire to make everyone understand what Rett Syndrome was, as we had never heard of this before.

Over the summer of 2003 Lizzie started to smile again, and to respond to singing and silliness.  In October 2003 and 2004, Lizzie's beautiful smiling face was part of the Rett UK and Jeans 4 Genes fundraising and promotional material, helping to spread the word and raise funds for research.

In June 2005 Lizzie's story was read by Jon Snow, the highly-respected Channel 4 News anchorman, as the Radio 4 Appeal on behalf of Rett UK. He said: "There are at present, no treatments or medicines or genetic therapies, which will give Lizzie any improvement. Lizzie will be totally dependent on others for the rest of her life.  For Lizzie's parents life ahead will be very different to how they imagined it would be as their family grew up. Lizzie will need 24 hour care for the rest of her life and they will have to learn to cope with the many challenges her condition will bring for them as a family."

We found other local families with Rett girls, and became a supportive group. In May 2006 we held a local Tea Party to raise funds and awareness of this profound disability. Donations flooded in from former and current clients, friends and family. These funds helped research move forward, and ultimately led to the genetic reversal of Rett Syndrome in mice in February 2007 by Professor Adrian Bird and his team in Edinburgh.

Theoretically at least there may now be a potential "cure" for Rett Syndrome. Gene therapy for many long-term and complex conditions is becoming more business led, with large foundations such as the Wellcome Trust working alongside international researchers, with vital investment from major pharmaceutical companies.

It is now many years since the amazing Genome project revealed the genetic markers needed to inform the ongoing research today. Theoretical developments and real-life cures are being announced all the time. The potential for everything is there for all our girls.

There is Hope. Research requires Patience! We are naturally impatient. Any parent in our position would be too.

Fundraising really does make a difference, and I thank clients, family and friends for their generous contribution towards this, and their continued support for us over the last 18 years.

For more information about Rett Syndrome-

Lizzie and Ann Lizzie 2 Lizzie 3 Lizzie 4
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