On Sunday June 1 2014, Team Ciara (Sion Owen, Michael Banner, Colin McLoughlin, Lawrence Holland, Peter Downey and myself) will be setting off on the 14:14:14 Cycle Challenge in an attempt to raise awareness of Rett Syndrome and to hopefully raise as much money as possible for our chosen charity, Reverse Rett (formerly known as Rett Syndrome Research Trust UK), who exist exclusively to fund ongoing research that will eventually lead to effective treatments and ultimately a cure for this terrible condition.

The 14:14:14 Challenge will see Team Ciara attempting to cycle through 14 countries in 14 days (in 2014). We will be starting at the Sir Chris Hoy Velodrome, Glasgow, Scotland (venue for the 2014 Commonwealth Games Track Cycling) and then riding to Stranraer, where we will take a late afternoon ferry across to Larne, Northern Ireland (end of day 1). The following day we will cycle from Larne down the eastern coast of Northern Ireland and in to the Republic of Ireland (approx 125 miles) where we aim to catch the late evening ferry, crossing from Dublin to Holyhead, Anglesey (end of day 2). Day 3 will then be a ride across Anglesey, crossing the Menai Bridge back on to the mainland, where we will continue through Snowdonia aiming to stop in/around the Chirk area of Wales. The following two days will be a ride of 240-250 miles across England to the port of Harwich where we will catch the overnight ferry to Rotterdam, Holland (end of day 5).

Once on the continent, we then have 9 days of riding, on average, in the region of 110 miles per day, to get through Holland, Belgium, Luxembourg, France, Germany, Austria, Liechtenstein, Switzerland and Italy. We have stipulated that once we leave a country, we cannot re-enter it (this is to avoid briefly crossing a border for the purpose of simply ticking off another country. We want to ensure we ride a decent amount of mileage in whatever country we are in). As the route heads south, the nature of the terrain will ensure a difficult end to the ride. When in Switzerland we will be riding up to the stay in Davos (Europe’s highest city). Upon leaving Davos we head over the Alps in to Italy, and in doing so we will be crossing the famous Stelvio Pass (Italy’s highest Alpine mountain pass), which is regularly used in the annual Giro D’Italia bike race. As if that wasn’t enough, our final day will see us finish the ride at the Church of the Madonna Del Ghisallo (Patron Saint of Cyclists), in the hilltop town of Magreglio, near Lake Como. The climb up to the church from Ballagio, Lake Como, is a climb of approximately 15 kilometres and which is also the signature climb of the annual Tour of Lombardy (professional cycling race). Our deadline for finishing will be 14:14 hours on June 14 2014, which will give us plenty of time to recover, ready to have a well earned Peroni watching the England v Italy game!

So, exactly why are we putting ourselves through not only the ride, but also the months of training to get ready to attempt it?

In September 2009 my Daughter, Ciara, was born. When we left the hospital, my wife and I thought that together with our son, Michael, we had our perfect (and healthy) little family. 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, she began to withdraw socially, she had no interest in toys, she could not use her hands, she would constantly grind her teeth, she 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. The term ‘Global Developmental Delay’ was continually used by the professionals to describe Ciara’s situation. 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 (September 2011) 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, incontinence, 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, and still are at times, too much to take. Shortly after Ciara’s diagnosis and for my own sanity, 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 the charity, Reverse Rett.

When we were given the diagnosis, a Consultant Paediatric Neurologist said to us, “If your daughter has to have any neurological condition, then Rett Syndrome 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 Reverse Rett website that I discovered what was going on in the world of research. In 1999 scientists had discovered that Rett Syndrome 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 (Professor Adrian Bird and his team at Edinburgh University) 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 Syndrome 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 and then on to effective treatments and ultimately a cure, is directly related to the amount of available research funds. Reverse Rett donates all money raised to fund this vital research. It is for this reason that we wholeheartedly support this charity.

When Ciara was diagnosed, clinical trials in humans were on the horizon........these have now started! Professor Adrian Bird (as mentioned above) was this year nominated for the Nobel Prize for Science and he has just received a Knighthood in the New Years Honours List, both in recognition of his achievements and the subsequent potential for curing Rett Syndrome. Hopefully, people can see that we are not naively hoping against hope for something that will never happen. The prospect of a cure is very tangible.........but for Ciara and all other girls suffering with Rett Syndrome, it is literally a race against time!

At this point in time Ciara is 4-years-old. She has recently started at a school for children with disabilities and as far as we can tell, she seems to be enjoying it. Ciara 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 continues to be 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, Mickey & Minnie Mouse and Disney films in particular. Her favourite foods are her daddy’s spaghetti bolognaise and Sunday dinners.  Life for Ciara must however be extremely frustrating at times. Ciara now has a younger sister, Sofia. Watching Sofia develop and thrive as normal, is a constant reminder of how much girls with Rett Syndrome miss out on and how courageous they are to suffer with it, yet fight against it. As time has gone on, Ciara now interacts more with the people around her. It breaks my heart that she can’t join in and play with her siblings and other children of her age. 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. As I said above, girls with Rett Syndrome are not brain damaged......a very crucial aspect of brain function is not working, rendering girls locked inside a body that won’t work as it should.

For this challenge, Team Ciara will consist of three riders (myself, Sion Owen and Michael Banner) supported by Lawrence Holland and Colin Mcloughlin. Sion, Colin and Lawrence are old friends of mine who know Ciara personally. Michael Banner is new to our team. He is a keen cyclist who has followed our previous challenges and has been inspired not only by Ciara’s story, but by another young girl who has Rett Syndrome, namely Caylin Davidson, the daughter of a family friend.

The one person I would want to thank more than anyone, as we prepare for and carry out this challenge, is my wife Gayle. This 14:14:14 challenge wouldn’t be happening if she wasn’t as passionate about Rett Syndrome being cured as I am and as supportive of our attempts to do our bit to help realise this dream. I am under no illusion that while I am riding my bike across Europe, Gayle will have the harder job of staying at home, working full time and caring for our 3 children.

Thank you so much for taking the time to read about Ciara, Rett Syndrome and our 14:14:14 Challenge. With your help, Rett Syndrome will be cured. With this, girls will first and foremost be kept alive but also free to follow their own dreams. Please support our ride and donate what you can as we really are in a race against time.

It won’t be long until parents can be told by Doctors, “Your daughter has Rett Syndrome and  this is how we cure it”.  

Thanks

Neil, Sion, Michael, Colin, Lawrence & Peter

#14:14:14 - It’s all about the girls

 

 

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