After the success of the Home2Rome and 14:14:14 Cycle Challenges, Team Ciara will take to the roads again in 2015, in what will be by far, our toughest cycle challenge to date!
This time around, the cyclists will be myself and Steve Downey, supported by Lawrence Holland and Peter Downey.
When throwing around ideas of what to do next, it was a prerequisite that we had to raise the bar in terms of difficulty and to really challenge ourselves in terms of what we are both physically and mentally capable of. This could be achieved by either increasing the daily mileage in comparison to anything we've done before, or we could include more of Europe's highest mountains.......we have chosen to do both!
At the stroke of midnight on Saturday June 20th 2015, the clock will start ticking! We have set ourselves the challenge of cycling from Ellesmere Port, England (Ciara's home town) to the Port of Venice, Italy, in only 7 days (168 hours)! The total distance is 1250-1300 miles and will include crossing a number of the worlds most famous/notorious mountains in the French Alps. If we have not arrived in Venice by 11.59pm on Friday June 26th, we will have failed!
Day 1 will be a ride of 238 miles (381 Km) from Ellesmere Port to Portsmouth, where we will then catch an overnight ferry to Caen, Northwest France.
Days 2 & 3 will both be rides of 200 miles (320 Km) as we make our way from Northwest to Southeast France.....to the Alps!
Day 4 will be a ride of 150 miles (240 Km), taking us into the French Alps and the day will end with an ascent up arguably the worlds most famous cycling mountain......Alpe D'Huez!
Day 5, at 85 miles (136 Km), will be our shortest in terms of distance, but will be a day full of mountains! The day will start with a descent of Alpe D'Huez followed by climbs up two more of cycling's most iconic mountains, namely the Col Du Galibier (highest point of the Tour de France) and the Col D'Izoard. At the end of day 5 we will still be in the region of 350 miles away from the finish line in Venice!
Day 6 will start with yet another iconic mountain climb, namely the Col D'Agnel (Europe's highest border crossing), which will see us cross from France into Western Italy. Once in Italy, it will then be 'hammer down' during the afternoon to try and get a further 100 miles (160 Km) across country before the day's end.
Day 7 will be 'full gas' all the way as we cycle the final 200 miles (320 Km) to Venice, on the Northeastern, Adriatic coast of Italy.......the finish line!
The nature of this challenge is such that, no matter how much training we manage to do in the months leading up to the challenge, or no matter how fit we get ourselves, there will still be a high likelihood that we will fail.......but that is what we want and that is what makes it the challenge that it is!
In preparation for this Challenge, the Team will be taking part in a number of smaller scale challenges to serve as training for the main challenge, but also to further raise awareness of Rett Syndrome. First up will be the Cheshire Cat Cycling Sportive (105 miles) on Sunday March 29th. This will be followed by the English Coast2Coast2Coast (Whitehaven to Tynemouth and back to Whitehaven. Approx 240 miles) over the weekend of April 11-12th. Our final challenge before the Port2Port gets underway will be Chester2Cardiff2Chester over the weekend of May 16-17th (Approx 310 miles).
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. From birth, girls will typically develop as normal for the first 6-18 months of their lives....their parents and families being completely unaware of there being anything wrong!
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. Other typical problems associated with Rett Syndrome include breathing difficulties, eating/digestive problems, musculoskeletal problems (including spinal curvature (Scoliosis) and joint dislocation), incontinence, disrupted sleep patterns, seizures, impaired cardiovascular function and sudden unexplained death. It is often described as having the symptoms of Autism, Cerebral Palsy, Epilepsy, Parkinsons Disease and Anxiety Disorders all in one little girl.
When reading any literature about Rett Syndrome, it will be stated that it’s incidence is 1 in every 10-12,000 girls will have Rett Syndrome. As such, it is often described as a rare condition. To help put this in to context, here are a few further facts about Rett Sydrome that will hopefully give some clarity:
- Each day 18-20 girls are born with Rett Syndrome
- Each year approximately 7000 girls are born with Rett Syndrome
- Since Ciara was born in September 2009 over 35,000 more girls have been born with Rett Syndrome
- Between Ciara’s 5thBirthday in September 2014 and by the time we start the Port2Port Challenge, over 5000 more girls will have been born with Rett Syndrome
- Rett Syndrome is just as prevalent as conditions such as Cystic Fibrosis, which the majority of people have at least heard of
After reading the above facts, Rett Syndrome suddenly doesn’t seem quite so rare!
As you are reading this, those girls with Rett Syndrome born within the last 6-18 months will as yet, not be showing any signs of there being anything wrong. Sadly, the devastation and heartbreak that comes with a girls lack of further development, regression and subsequent diagnosis, lies in the coming months, for those parents who currently could not be happier.
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, even within the medical professions.
What can be worse for a parent than feeling unable to help their child when they are suffering. The courage and bravery that girls with Rett Syndrome demonstrate each and every day of their lives is truely amazing and inspirational. When Ciara was diagnosed I felt that our world had literally fallen apart. All our hopes and dreams for Ciara’s future seemed to vanish with those words, “I’m sorry to tell you that your daughter has Rett Syndrome”. The thought of never hearing her call me Daddy, never being able to tell us what she wants to eat, never being able to tell us what she wants for her Birthday or for Christmas, never being able to play with her siblings, never having other children knocking on our door for her to go out and play, never knowing what she’s thinking about, not being able to chase her own dreams and the prospect of me 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 last year nominated for the Nobel Prize for Science and 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 5-years-old. She attends a school for children with disabilities and as far as we can tell, she seems to be enjoying it. However, we have recently been advised by the school that Ciara is considered to be one of the two most vulnerable children in the school......a scary thought considering the nature of the school that she is at. 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. Over the past year she has been diagnosed with and has commenced treatment for Epilepsy (caused by Rett Syndrome). She continues to be on long term prophylactic antibiotics for her chest due to previous repeated chest infections and having a partially collapsed lung (caused by Rett Syndrome). We constantly worry about her future and each night when we put her to bed I still think to myself, “I hope she’s still with us in the morning”.
I’ve previously said that despite her disabilities she seems to be generally happy in her little life. These days, i’m not quite so sure. She still has the most amazing smile that melts my heart each and every time. We just don’t seem to see it as often these days. She continues to love watching TV, Disney films and Justin’s House are her current favourites. She continues to enjoy her favourite foods (Italian and Sunday dinners), though over the past couple of months her ability to eat her food has at times appeared to be deteriorating (currently being closely monitored).
Life for Ciara and girls like her must be extremely frustrating. Ciara herself has a younger sister, Sofia, who is now 2 years old. Watching Sofia develop and thrive as normal, is a constant reminder of how much girls with Rett Syndrome miss out on, but how courageous they are to suffer with it, yet fight against it. Ciara must wonder why she is unable to do what her brother and sister are able to do. 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 see that she wants to be more involved e 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.
Like all parents of girls with Rett Syndrome, we live in hope that the potential for a cure will soon be realised. With your support this dream WILL become a reality. Your support WILL make a difference in the lives of thousands of young girls/women.
People must realise that all newborn girls are just as likely to have Rett Syndrome as Ciara did when she was born. Ciara’s brother and sister will one day have children of their own and as things stand currently, any daughters they may have could quite as easily be born with Rett Syndrome. As such, the need for a cure is just as much about protecting future generations as it is about saving the girls who currently suffer from Rett Syndrome.
The 'Race Against Time' has a dual meaning. First, it reflects the challenges that girls with Rett Syndrome, their families and the researchers face every single day. Without effective treatment and ultimately a cure, girls will continue to suffer and die. Second, it reflects the very nature of our challenge!
Thank you so much for taking the time to read about Ciara, Rett Syndrome and our Port2Port Cycling Challenge. With your support it won’t be long until Doctors can say, when informing parents that their daughter has Rett Syndrome, “Your daughter has Rett Syndrome, but the good news is, it can now be cured”.
Please support our cycling challenge and donate whatever you can. We also have a number of social media pages (see links below), where progress of our challenge, including the build up, can be followed.
Neil, Steve, Lawrence & Peter (Team Ciara)