To celebrate being 40 I have decided to take on my bucket list and spend the year raising vital funds for Reverse Rett in the meantime.  I am lucky enough to have a Great North Run Place for 2013 and 2014 and with my 40th Birthday landing in the middle, it seemed a good place to start and end.

I am fund raising for Reverse Rett because my friend’s daughter has a hideous condition called Rett Syndrome and Reverse Rett fund research into a cure.  Rett Syndrome is a neurological disorder that strikes little girls around the time of their first birthday and ends their parents’ hopes and dreams for their future. Rett Syndrome affects nearly every aspect of these girls’ lives; taking away their ability to walk, talk and use their hands. Many girls have problems with breathing and eating. Many have seizures. Research has shown that girls with Rett do not have brain damage. They know and understand much more than their bodies allow them to show - but they are locked in, trapped by a body that cannot obey signals from their brain.

Here is more about Ciara’s story in her dad’s words: ‘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.’

Reverse Rett is an amazing charity founded and managed by parents of girls with Rett Syndrome who really do go all out everyday to ensure there is a better future for their daughters.  There can't be many other charities that can say 95% of public funds raised or donated will be delivered to research but Reverse Rett can.  A cure is very near and realistic. www.reverserett.org.uk/

And here's the how - my Fun and Firsts to celebrate 40:- 

Great North Run 2013

Chester Marathon 6th October 2013

Hell Up North 2nd November 2013

Chester Santa Dash 8th December 2013

Liverpool Half Marathon March 23rd 2014

Excalibur Marathon 10th May 2014

Chester Half Marathon 18th May 2014

Rock & Roll Half Marathon 25th May 2014

Big Welsh Trail Half Marathon 7th June

The Wall - 69 Mile Hadrian's Wall Ultra 22st June 2014

Cholmondely Castle Tri-Athlon - The Gauntlet Half Ironman 29th June 2014

Great North Run - 7th September 2014

(Tough Mudder – 13^th September 2014)