The story so far…
During Leicester City’s promotion winning 2014/15 Championship season, I took on the challenge of cycling to all 23 away fixtures, to help raise funds and awareness for MECP2 Duplication Syndrome; a rare chromosome disorder my son Ellis suffers from. I am still to this day overwhelmed by what happened during that season; the text”ellis” campaign was the start of something pretty amazing!
Please visit http://www.justgiving.com/textellis2014 to view our JustGiving page from the 2014/15 text”ellis” campaign.
Leaving the King Power Stadium on Thursday 1 August 2013, for the 186 mile trip to Middlesbrough, I never imagined that in eight and a half months time, I would be crossing the finish line at the John Smiths Stadium, Huddersfield, to conclude what I can only describe as the journey of my life! No one could have prepared me for those challenges ahead; the ever changing elements, numerous punctures and huge blisters, to name but a few, the only thing that kept me going was reminding myself that through it all we were getting closer to finding a cure for my beautiful little boy. It wasn’t just the obstacles that made the challenge so memorable, but the unbelievable support I received along the way! I will be forever thankful to not only my family, but also Leicester City Football Club, SkyBet, Leicester City supporters and the football community as a whole! I also owe huge thanks to Chris and Gary, Ellis’ uncles, for getting on their bikes and supporting me on many of the rides.
What started, as some would say was an unrealistic £100,000 target, finished as a £119,000 dream come true!
So why did I take this challenge on?
In November 2011, just before his 4th birthday, my little boy Ellis was diagnosed with MECP2 Duplication Syndrome, a rare chromosome disorder. Until then, we had always known that Ellis was not achieving the usual milestones a child should, but doctors were unsure as to the reasons why and he was always put under an umbrella of Global Developmental Delay.
Fortunately, our geneticists were eager to find out more and put Ellis forward for a Micro Array Test, a new type of blood test that digs much further into the structure of chromosomes. It was found that he had a duplication of the Xq28 region of his X chromosome.
Even though we finally had a diagnosis, the condition is so rare that all we were given was a two-page leaflet explaining the difficulties the few children that had been diagnosed with this condition face.
It was devastating to read that there was a very high possibility that our beautiful little boy may never walk or talk, not to mention suffer daily with seizures brought on by epilepsy. We also learnt that Ellis would always face a battle with recurring chest infections that are brought on by the condition…this would be potentially the most serious problem we would face with pneumonia the most common reason for a shorter lifespan, if not treated quickly and efficiently.
As you can imagine, after hearing this news my wife Leanne and I, went through many emotions, but luckily we reached a stage where we were now ready to fight! We started by researching the internet for as much information as we could find….and came across a fantastic website “The 401 Project”. Here we found that research was underway into finding a way to reduce the effects of Rett Syndrome, which is another disorder that affects the MECP2 region of the X chromosome. Using mouse models, they made an amazing breakthrough and not only realised that the effects could be reduced, but actually reversed! This meant one thing…a potential cure! The research is now focused on finding a way to control the protein levels in the MECP2 region of a human being, which would not only cure Rett Syndrome, but also all other disorders caused by duplications in the MECP2 region…including Ellis’ Xq28 Duplication!
This breakthrough in research has now encouraged many laboratories to focus more time and effort into finding ways to control the protein levels in the MECP2 region. As you can imagine research costs money and with the condition so rare and unknown, it is difficult to raise funds through the usual government channels.
Huda Zoghbi, from the Baylor College of Medicine, Houston, Texas, who originally discovered the MECP2 gene and it’s role, was looking for funding to start research into the screening of FDA approved pharmaceutics that could potentially regulate the levels of the MECP2. This project alone required $733,000 to commence!
After completing my challenge in April 2014, thanks to the generous donation of £45,000 from the Leicester City owners, enough money had been raised to fund this project we had so desperately wanted to see commence. In July myself and Ellis, along with my wife Leanne and younger son Theo, flew over to Houston, Texas to present a cheque for just short of £120,000 to Huda Zoghbi and her research team at the Baylor College of Medicine.
During our visit we were shown around the laboratories and listened to presentations from the research team, explaining the project in greater detail. They were also very excited to share with us further channels that they had discovered during their research; in particular a new strategy that could potentially be a stepping-stone to the dream scenario of a drug based treatment. Unfortunately, even if a drug is identified, it would require FDA approval, a process that can take many years.
The new project is a therapeutic based strategy, aimed at testing whether reversibility of MECP2 Duplication Syndrome can be achieved using a pharmaceutical like molecule called Anti Sense Oligonucleotides or ‘ASO’ for short. To put this simply, these ASO’s are readily available for use and therefore do not require FDA Approval. If a strategy like this was a success, then Ellis could start to have treatment much earlier, whilst a drug based product was identified and approved for human use.
The cost of this project is $230,000 and as usual we are in a situation where there is no way of funding this unless we, as parents, raise the money ourselves…THE NEXT CHAPTER BEGINS!
All I can ask, from the very bottom of my heart, is for anyone reading my page to send just one text message to my beautiful little boy Ellis and help us to find that cure! Simply text MECP77, followed by £1, £2, £3, £5 or £10, to 70070. Alternatively you can make an online donation via my Just Giving page:- www.justgiving.com/textellis.
All funds donated via Just Giving will go directly to Reverse Rett, a fantastic charity who kindly oversee the ‘MECP2 Duplication Fund’, from which every penny is used to fund the research projects that we hope will one day cure Ellis’ condition.