Thank you so much for taking the time to visit my JustGiving page.

Hopefully, you're now sitting comfortably and can spare a few minutes more to read about what cycling challenges are planned for this year and more importantly, why.

On the weekend of September 17th/18th, myself, Sion Owen, Steve Downey and Chris Randles will be heading down to the world famous and historic motor racing circuit, Brands Hatch, to participate in the 4-person-relay category of the Revolve24 event. The premise for this is simple. a straight 24 hour race and whoever completes the most laps in 24 hours wins..  

Outside of these two events, I will also be riding in support of Ciara's 12-year-old brother, Michael, when he takes on his first ever 100 mile ride, Michael's 'Century4Ciara' and then again towards the end of August when he heads down to the Italian Alps to do his 'Climbing2ReverseRett'' challenge. More details about Michael's rides can be found on his own fundraising page.

So, why all this riding bikes?

In September this year, my daughter, Ciara will be 10 years old. The day before before her 10th Birthday will mark the 8 year anniversary of her being diagnosed with having Rett Syndrome. 

For those who may not know what Rett Syndrome is, it is essentially a neurological development disorder that affects 1 in 10-12,000 girls. This means that 15-20 girls are born with having Rett Syndrome each and every day. That would mean that in the last 10 years alone i.e. since Ciara was born, there will have been approaching 73,000 other girls born with having Rett Syndrome.

Some of the typical signs and symptoms found with Rett Syndrome are the inability to sit/crawl/stand/walk, unable to talk, unable to purposefully use their hands, difficulty eating/drinking, anxiety, seizures, breathing difficulties, social withdrawal, bowel issues, cardiac problems, muscle weakness/low tone, spasticity and musculoskeletal problems, including Scoliosis, which often requires  major spinal surgery.

So, why has this happened to Ciara? The simple answer is that Ciara is unlucky. The cause of Rett Syndrome is the totally random mutation of one particular gene (MECP2), found on the X-Chromosome, which just happens to have a very crucial function within the brain. Every single girl, at the point of conception, is just as likely to have Rett Syndrome as Ciara or any other girl was. 

In Ciara's own case, there were absolutely no signs of anything being wrong for the first 6 months of her life. For other girls it can take 1 -2 years before the signs begin to show. For Ciara, it was the failure to hit her developmental milestones at beyond 6 months that led to a referral being made to a Consultant Paediatrician at our local hospital. This was followed by 18 months of numerous investigations at both the Countess of Chester and Alder Hey Children's Hospital. These included numerous blood tests, x-rays, CT scans, MRI scans and muscle biopsies. The results of all of these were normal. It was when we were referred to a Geneticist, who on the basis of our description of Ciara and other conditions having been ruled out, that Ciara was tested specifically for Rett Syndrome.  

I remember the day of her diagnosis and the meeting with a geneticist like it was yesterday. We were given her diagnosis on the day before her 2nd Birthday. I can't even begin to describe the sense of devastation that we felt and the feeling that your little girls life is over before it even really starts. At that moment, I had no idea how, or even if we could move forwards and begin to somehow deal with the situation.

Very soon after the diagnosis, we met with a Consultant Paediatric Neurologist from Alder Hey Children's Hospital, Liverpool, who said to us, "If your daughter has to have such a condition, then Rett Syndrome is the one to have". What he was referring to was the very promising research that  had been taking place and the very real potential for a cure. His words have become even more significant as the years have gone by.

It was when researching Rett Syndrome on the internet, shortly after Ciara's diagnosis, that we came across the charity, Reverse Rett. At this time, what gave us hope was the incredible research that had taken place only a few years earlier, in 2007. Professor Adrian Bird's team at Edinburgh University had proved that in principal, Rett Syndrome could be cured, albeit it was in a mice model at that time. Clinical trials in girls/women with Rett Syndrome was still very much on everybody's wish list and still a distant goal.

The progress that has been made since that time has been phenomenal, though still not fast enough for those who live with the cruelty of Rett Syndrome each and every day.

We are now at the start of an era of clinical trials not just in mice, but in those girls and young women who have Rett Syndrome. Last year saw the first ever UK based clinical trail at King's College, London. This was centred around a medication to aid with breathing irregularities. There is soon to a further clinical trial, with UK trial sites in both London and Liverpool. This trial will be looking in to the effects of Cannabidoil and it's ability to deliver a global improvement with regard to a number of the typical symptoms of Rett Syndrome. Ciara has now been referred for consideration of being included on this trial. Reverse Rett have in part funded both of these trials.

In addition to the above trails, which are looking at specific treatments for particular symptoms,  a clinical trial will be getting underway later this year in the US, which is not concerned with treating symptoms, but looking at Gene Therapy as a CURE!

These incredible developments have taken years to arrive at and have involved an immense amount of hard work. The funding for these trials does not come from any Government source or from any magic pot of money. It largely comes as a result of the commitment and determination of not only Rett families but also their extended network of individual fundraisers, who while not directly connected to Rett Syndrome, have chosen not to be indifferent, but to get involved in the fight.

As promising as the current research is, there is still a long way to go until we reach the point of girls actually being cured and the diagnosis of Rett Syndrome not being the drawn out death sentence that it currently is. Girls are still being diagnosed every single day and all too often, we hear of girls losing their lives to Rett Syndrome. 

Ciara, who is soon to be 10, is yet to speak a single word, yet to take her first steps, yet to learn to swim, ride a bike and to dance. She is yet to play in the park or have a friend knock on the door asking her to play. She has had far more hospital admissions and had more medication than the rest of her entire family put together. This is no life for any child and until such a time when Rett Syndrome is a confined to history, I will keep doing my bit to help.

I recently read about a woman in her 80's who has just completed the Lands End to John O'Groats (LEJOG) Cycle Challenge for Macmillan Cancer Support. She started doing cycling challenges as a way of coping with the grief of losing all three of her children to cancer when they were in their 40's. This is something that I can definitely relate to. While Ciara may still be with us, having a child with Rett Syndrome and the vulnerability that comes with it, without question, for me anyway, involves a seemingly never-ending grieving process. Rett Syndrome has certainly changed my perspective on life and has taken me to some very dark places mentally. Training for and carrying out crazy cycling challenges helps keep me sane and goes some way to giving me some sense of being able to help her. 

Some may feel that what i've written here is too lengthy to read. But believe me, I could easily have written so much more. If anyone out there wants to know anything more about Ciara's experience with Rett Syndrome, feel free to get in touch.

For those who may like to find out more about Rett Syndrome and the work of Reverse Rett, then please visit their website: www.reverserett.org.uk

Again, thank you for taking the time for reading what i've written and all donations, no matter how much, are greatly appreciated.

Best wishes

Neil

#itsallaboutthegirls

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