Kim Douglas PXE Awareness Card
by Heather Uzer
This article first appeared in the June 2016 issue of the PXE International eNewsletter.
11 years old
It's every parent’s nightmare to be told that one of your children has been diagnosed with a rare genetic disorder, something that will be with them forever, and could lead to some quite significant health-related problems at some part in their lives.
Our eldest son, Chad, has just turned 11 years old and, on the outside, is very typical, happy, fun, excitable and sometimes cheeky, naughty and a bit lazy! All normal! Yet, on the inside, it's a slightly different story. Last summer (2013), Chad was diagnosed with pseudoxanthoma elasticum (PXE). As the dermatologist started to explain what this meant, it was difficult to take on board how, all of a sudden, we were facing this life-changing scenario which appeared to have no solution.
Chad's diagnosis came about through a GP's referral to our dermatologist consultant at our local hospital. The GP picked up on the unusual changes in the skin around Chads' neck. However, my wife and I had been monitoring these changes since Chad was about 6. We had taken Chad to the doctors several times over the years, sadly being told to “monitor” it! Thankfully, we moved a few years ago and decided once again, last year, to get Chads' neck looked at by our new GP. Within weeks, Chad was having a biopsy and just a couple of weeks later we had the very upsetting results.
It has been a very traumatic year. Seeing various consultants for eye, cardio, genetic and gastric examinations, all thankfully fine for now. The medical support that Chad has had so far has been amazing. However, as a parent, it left me feeling pretty useless. I'm quite a practical problem solver, hands-on sort of fixer. Suddenly, our son is faced with something that I have no tools to fix! I felt I really did need to do something that at least might help give someone else the tools to help fix Chad!
About three months ago, I had my EUREKA moment! I had been researching PXE since the time we knew about Chad's diagnosis. My main resource for this was the PXE International website and Facebook group. I was inspired by the research being done by the team at PXE International and by the various discussions going on via Facebook. It became apparent to me that this is where I needed to focus my efforts for “fixing” Chad. Without the amazing work being commissioned by this wonderful charity, PXE would probably still be an unknown disease and the advances to date would not exist.
Mad Monk 10k obstacle course
So, I had to hatch a plan! How could I help? What would I do? I'm 43 and thankfully, reasonably fit. Last year I took part in my first triathlon and Cyclo Cross event which I thoroughly enjoyed. I had planned to do a couple this year! Instead, I've decided to attempt at least one physical, endurance event a month for a minimum of one year to help raise awareness and funds for PXE International. Some months there are a couple of events, perhaps bad planning on my part!
I am currently two months in and two events down. My first challenge was to run in my first ever 10km race. I joined about 5000 other runners in the annual Derby 10k run. It felt good knowing that I had finally started to do something that could potentially lead to furthering the research into PXE. I finished the run in a pretty decent time too, an all round great start to the year ahead. This month has seen challenge number two ticked off the list, a 10k obstacle race called the Mad Monk. This time I was joined by two old school friends who wanted to join me and further the fundraising campaign. We called ourselves “Team Dirty Habits” and pulled each other around the course. We stayed together as a team and crossed the finish line all at the same time. Quite an emotional moment for me.
My next challenge is on the 15th of June. This will be my first triathlon of the year, and my very first open water triathlon, which I'm just a little concerned about! It consists of a 500m swim, 18k cycle and a 5k run. Hopefully the weather will be kind and the water not too cold!
Other challenges throughout the year will include some long distance bike rides, more triathlons, cyclo-cross races, runs and potentially some 24-hour challenges amongst others! The whole year will culminate into one final, rather massive challenge, taking days rather than hours. All I can reveal about that challenge at the moment is that is likely to involve mountains and bicycles!
What has been inspiring also to me is the help of my family and friends. Their encouragement and support has been amazing even to the point of some of them wanting to take part in some of the events and challenges too. They have also been a source of alternative fundraising opportunities. For example, Chad attends a martial arts club, Derby Martial Arts. The owner and instructor Ryan Lawson has adapted Chad's lessons so that he can continue to attend classes which he's been doing since he was six years old. Ryan has also offered to have the PXE International logo printed onto the martial arts kit to widen the awareness. For each piece of kit sold with the logo on, Ryan has pledged to donate a further £2! We are also going to be holding a “Family Fun Day” at the centre with bouncy castles, cake sales and activities at some point over summer, all proceeds going to PXE research.
We are also going to be having an “Eighties Pop Party” in the early autumn. It'll be fancy dress, of course, lots of crazy dancing, an 80's quiz, kids activities and some sort of raffle or auction depending on what sort of prize donations we have. This is already getting our friends talking so I know it's going to be a brilliant night. It would be great to do more events like these so if this one goes well, it might become a regular fixture.
So, the year of awareness and fundraising is off to an amazing start. PXE International has a “Wish List” for important research into PXE. I'm glad I now feel able to help on a practical level. And what's more, I'm surrounded by lots of people who want to help too. In the two months so far in fundraising, the current total as I type now stands at £480. I am so thankful to those that have been so kind with their donations. My target is £2000, which I secretly hope to smash!
We've got our fingers crossed that one day our worries will be over as I'm sure many of you reading this will have also. Until that day, I urge you to keep supporting PXE International and its committed research into PXE. Please feel free to follow my exploits via my Facebook and fundraising page and please do share far and wide - it is PXE International after all!