We are #TeamPXE and we are a charitable organisation who raise awareness and funds for a charity called PXE International. We started off as a husband and wife team when, in 2013 our eldest son was diagnosed with a rare genetic disease called Pseudoxanthoma elasticum, (PXE for short); it affects the skin, eyes, cardiovascular and gastrointestinal parts of the body.
PXE is such a rare disease the first response when you tell someone about it is, “I’ve never heard of it”! One in fifty thousand people have PXE! It’s that rare! That is why we are we are doing our best to raise awareness and do what we can to tame the disease.
When our son was diagnosed, it was a complete shock - we'd never heard of PXE and we were horrified by what it could have in store for him. When you are told that your child could go blind, or have heart problems as a consequence of having this disease, as a parent, you really are faced with a whole load of difficult information to deal with. Our son had some unusual markings on his skin, around his neck, which we had noticed since he was five years old. How could that lead to blindness? We had been told to monitor it and that he’d probably grow out of it.
Five years later, it had not gone away and had actually gotten worse; after seeing three other doctors, we needed answers! A final visit to a local GP initiated a referral to a specialist dermatologist. She ordered a biopsy straight away and two weeks later we were being called in to be told our son had a rare, genetic disease that no one could advise on in the UK!
Fortunately, the dermatology consultant at the Derby Royal Hospital, Dr Bliker, had heard of PXE and gave us the information of an organisation in America, (as there are none in the UK), called PXE International, who were, (and still very much are), so supportive. They provided us with lots of information and insight into the disease. PXE International was founded by Sharon Terry and her husband, Patrick. They have two children with PXE and so much knowledge and have done so much for the PXE community.
"PXE International was founded in 1995 to promote research and support individuals affected by pseudoxanthoma elasticum (PXE). We work on behalf of individuals and their families to improve quality of life through advancing research, educating clinicians and supporting individuals".
My initial thought as a dad was, how am I going to sort this out? This was after a few months of digesting what had actually happened to our son. I needed to do something to make things better, but I couldn’t simply put a plaster on it and it would eventually go away! The thing is with a genetic disease, you have it for life, there is no cure! So, it seemed only right to partner up and start raising funds for the amazing work that PXE International were doing. My head was saying, we need research, we need answers and we need money to do that! We started a massive fundraising campaign to help find a way to limit these symptoms for our son and all of those affected by PXE.
Now, more than four years on, our "team" here in the UK has got bigger and definitely, better. We have roped in family, friends and work colleagues to help us out with our fundraising challenges. We take on individual and team challenges, some of which can be quite wild! Proudly sporting our PXE t-shirts and occasionally our #teampxe headbands, we try and raise as much awareness and money as we can.
Our efforts have helped raise enough money to support research all over the world! In fact, a PXE Centre of Excellence has been created in Philadelphia which we help support. The money we raise directly supports cutting edge research to find solutions to help delay the symptoms of PXE. We might not be able to cure PXE but, with your help, we might be able to tame it - if you would like to take on challenges with us, just Join the Team on our JustGiving page and we'll be in touch with further details about how you can help.
Thanks, Al and Jo Ditheridge