On Saturday May 11 2013 I, along with a good friend Sion Owen, will be setting off on our ‘Home2Rome’ cycle challenge. We will be starting from the ancient Roman Amphitheatre in Chester and aim to finish at the ‘Daddy of all Amphitheatres’, the Colosseum in Rome, on Friday May 24 2013. The 1400 mile route will take us from Chester to Dover where we will take the ferry across the English Channel to Calais. From here we will cycle through eastern France before taking a left turn into Switzerland, where we will then negotiate the Alps before entering Italy and following the Mediterranean coast to Rome. I don’t view this as some life experience or personal challenge....it is quite simply a way of trying to ensure a brighter future for my daughter, Ciara, and other girls who have been diagnosed with Rett Syndrome.

In September 2009 my Daughter, Ciara, was born and for the first 6-7 months of her life everything appeared to be fine with her development. It was around this time that we started to notice that Ciara was not attaining her developmental milestones. In particular, she never started to crawl, began to withdraw socially, had no interest in toys, would constantly grind her teeth, would become anxious and distressed for no obvious reason, had difficulty eating food and exhibited extremely low muscle tone which caused her to be floppy, preventing her from being able to sit unaided. A subsequent referral to a Consultant Paediatrician triggered 18 months of clinical investigations at the Countess of Chester Hospital and Alder Hey Children’s Hospital, Liverpool. These investigations took the form of numerous blood tests, muscle biopsies along with Ultrasound, CT and MRI scans of her body and brain. All of these investigations failed to arrive at a diagnosis, though did eliminate a number of better known conditions and showed that structurally there was nothing wrong with her brain i.e. she was not brain damaged. We were then referred to a Consultant Geneticist who was the first to raise the possibility of Ciara having Rett Syndrome. We had never heard of Rett Syndrome at this point and we were probably in denial and let ourselves believe that it was just another test to rule out another possible condition. How wrong we were. The day before Ciara’s 2 birthday we received the devastating news that the latest blood test confirmed that Ciara had Rett Syndrome.

Rett Syndrome (named after an Austrian Doctor, Andreas Rett) is a Neurological developmental disorder that is almost exclusively found in seemingly healthy girls. It is caused by a totally random genetic mutation at the point of conception. It is not hereditary and therefore can potentially affect any girl. As you are reading this there will be newborn baby girls in this country who have Rett syndrome, yet their extremely happy and proud parents will as yet, have no idea of what lies ahead. With Rett Syndrome, developmental delay is common and girls will often go through a period of regression, where they lose skills that they had developed, such as crawling, walking, talking, feeding and use of their hands. Breathing difficulties, digestive problems, disrupted sleep patterns, seizures, impaired cardiovascular function and sudden unexplained death are also associated with Rett Syndrome. It is often described as having the symptoms of Cerebral Palsy, Epilepsy, Parkinsons and anxiety disorders all in one little girl.

As things stand there is no treatment or cure for Rett Syndrome. Life expectancy is significantly reduced and Ciara, along with all others girls, face the prospect of a life in a wheelchair and 24 hour 1:1 care. There is the likelihood that she will require tube feeding in the future and due to having low muscle tone will develop a spinal curvature (Scoliosis) which would have a detrimental effect on her ability to breath. Ciara already has a partially collapsed lung. What I still find astonishing, particularly in view of the severity of the condition is how relatively few people have heard of Rett Syndrome. It may be a relatively rare condition, but it is no less prevalent than Cystic Fibrosis, a condition that most people will at least have heard of. What girls with Rett Syndrome go through on a daily basis takes courage and bravery to another level. I am so proud of Ciara and these girls are just such amazing and inspirational people.

What can be worse for a parent than feeling unable to help their child when they are suffering. When Ciara was diagnosed I felt that our world had fallen apart. The thoughts of never hearing her call me Daddy, never being able to tell us what she wants to eat or what she wants for Christmas, never being able to play with her siblings or make friends as normal and the prospect of never being able to walk her down the aisle and dance with her at her wedding were all at times too much to take. Shortly after Ciara’s diagnosis I decided to try and raise awareness of Rett Syndrome and money to help fund research into finding a cure. It was when searching on the internet that I came across Rett Syndrome Research Trust UK.

When we were given the diagnosis, a Consultant Paediatric Neurologist said to us, “If your daughter has to have any neurological condition, then Rett Sydrome is the one to have. It is the one most likely that a cure will be found for”. At that point in time we didn’t really take on board what he said and I probably thought, “Yeah right, whatever”. It was when reading the information on the Rett Syndrome Research Trust UK website that I discovered what was going on in the world of research. In 1999 scientists had discovered that Rett Sydrome is a single gene disorder and they discovered exactly which gene was at fault (the MeCP2 gene). This gene has a crucial role in the control of overall brain function. The fact that it is a single gene disorder lends itself to the potential for discovering treatments and/or a cure. What really got my attention was that in 2007 scientists carried out an experiment using a mouse model and discovered that by replacing the missing proteins on the faulty gene, all symptoms were reversed and Rett Sydrome appeared cured, albeit in a mouse. From this point, the potential for a cure for girls with Rett Syndrome became a very real prospect and this is what our Consultant had been referring to.

As promising as the research is, everything as usual comes down to money. The rate at which the research trials can move from animals to humans is directly related to the amount of available research funds. Rett Syndrome Research Trust UK donates all money raised to fund this vital research. It is for this reason that I wholeheartedly support this charity.

At this point in time Ciara is 3-years-old. She is still unable to sit unaided, cannot talk, cannot feed herself, cannot purposefully use her hands and cannot communicate her thoughts and feelings as she would like. She is on long term antibiotics for her chest. We constantly worry about her future and each night when we put her to bed I still think to myself, “ I hope she wakes in the morning”. When I hear her laughing the following morning then briefly, all is good. Despite her disabilities she seems to be generally happy in her little life. Her smile melts my heart each and every time. She loves watching TV, in particular Justin’s House and Disney films. Her favourite foods are her daddy’s spaghetti bolognaise and Sunday dinners.  Life for Ciara must however be extremely frustrating at times. We can see her observing the world around her and watching other children her age playing together. It breaks my heart that she can’t join in. She loves interaction with other children and we can clearly tell that she wants to be involved more in the world around her than her body will allow.

Thank you so much for taking the time to read about Ciara and Rett Syndrome. Please support our ride and donate what you can as we really are in a race against time.

As long as there is hope we keep smiling and we keep fighting to help the clever people find the cure.

Thanks

Neil

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