Foreword by Nicola Miller, Teddington Trust
One of our key objectives is to educate and inspire others affected by XP, to realise, at that key time of diagnosis that much is still possible. And one inherent trait that all XP families, we have been in contact with share, is an unbelievable spirit to get up, get on and make life great, and sometimes to the outside world they make it look too easy.
But; make no mistake a diagnosis of XP is a devastating one that affects every aspect of the patients life and requires a considerable commitment to the unconventional. What we cannot and must not do is avoid or undermine the seriousness and often cruel reality of this condition, and we must accurately portray and represent what it means in different ways to different members of our XP community. You have heard us mention the possibility of neurological involvement for XP patients, but what does this really mean?
Please take some time to read the story of a beautiful and incredible young man called James, as written in words and pictures by his Mum Cathy.
From then till now… by Cathy
“James first burnt at 14 days old on a sunny April day.
He was diagnosed with Xeroderma Pigmentosum at 7 months old and we tried as a family to come to terms with what the future might hold for us all.
What we didn’t know until James was 3 years old and showing that he had speech and language delay, and was unsteady on his feet was that he carried the XP gene that would lead to him deteriorating neurologically.
This was like going back to square one, almost feeling like it was an additional diagnosis rather than part of XP, after all we had focused on him not burning not getting cancer so it was all to do with skin.
Suddenly people were talking about him losing hearing, mobility, cognitive function, without being able to support him if it would happen, how affected he would be or over what period of time.
No one could even tell us why it happens to some people and not others. All they could say was it wasn’t related to sun exposure, so no matter what we did if it was going to happen it would, and it did.
James had normal hearing in the March just before his 7th birthday, by the September of that year he had bilateral hearing aids. He rode a two wheel bike in the April for his birthday, and by June he had to give it up for a disabled tricycle which he loved–bless him.
Since then some function he has lost slowly and others very abruptly.
The worse has been since October 2013 when his vocal chords suddenly became paralysed. He was at his day care centre on the Wednesday and in a blue light ambulance on the Friday. He had a tracheotomy inserted and made a quick recovery and was in Cyprus on holiday 12 days post op.
No longer able to talk, the silence was difficult for us to adjust to but James took it in his stride. We adjusted to little sleep, video monitoring him at night and carrying around suction machines, trachy tubes, and holding our breathe that nothing would happen if we went out. The management of his skin well established by now we almost forgot about, performing tasks robotically, all energy on keeping him safe not from UV but from choking, or the tube blocking.
James had been having swallowing difficulties, puréed food and thickened drinks, for the past year, one Christmas eating a normal dinner, the next a puréed dinner, and by the next Christmas he was tube fed. This was probably the worse period. James suddenly become unable to swallow in February 2014, and one day yoghurt came out of the trachy, the following day he was coughing, and the next in hospital in resus –he had pneumonia.
This lead to him being tube fed, and later having a gastrostomy to feed him to keep him alive as he could no longer eat. He was allowed to drink water, but this has recently had to stop as he was coughing and producing a lot of mucus from the trachy. It was during this admission that James changed the most.
He was in hospital for 8 weeks seriously ill for some of it and recovering for part. However the feed gave him diarrhoea, and he had to wear nappies– he had gone in wearing boxer shorts! Medication was given with little effect and the feed was changed numerous times until he tolerated one with the need still to have medication four times a day. He was discharged a completely different person his personality gone, no laughter no sparkly eyes, my boy gone just a shell of his former self.
Unable to talk I have no idea what he makes of it all — to go from running around, riding a bike, being able to horse ride and swim to now not being able to even stand, unable to tell anyone anything, unable to eat, wearing nappies, cough and choke on your own salvia; just soul destroying.
Yet some days he tries to smile, he still flirts, and at the specialist Sense centre he attends he follows wheelchair yoga, participates in art, cooking etc. Other days he is unable to hold his head up, stay awake or control the drooling .
What makes one day so different from the other we have no idea, what the future holds no idea, how long will he live no idea, how much is he loved–loads x”