Xeroderma Pigmentosum

I’ve had a few new followers on my blog recently and it occurred to me that some of my followers may not fully understand or know about the condition Xeroderma Pigmentosum, or XP for short that my daughter Livvy lives with. And that’s ok not to know a great deal about it or even have heard of this condition before as it’s extremely rare, we are talking around 100 cases in the U.K, which has a population of more than 65 million, I’m not great at maths but even I can work out how rare Livvy’s condition is.

Even now three years on from diagnosis I find myself explaining things relating to XP to friends, family and teaching staff at school, the response is often the same, ‘I never knew that about XP!’ The closest people to Livvy are still learning about the condition that has turned her life upside down overnight.

So where do I start in explaining such a complicated condition to someone that possibly has no prior knowledge of the condition? Anyone that has followed my blog even for a relatively short time will be fully aware that Livvy has skin cancer so I guess this is the best place to start in explaining what XP is.

So here goes…

Everyday all our bodies are exposed to ultra violet radiation (UVR) from the sun, we are all aware of how dangerous UVR can be in terms of being sun burnt, we’ve all either been burnt or know someone that’s been burnt from the sun, it’s the UVR from the sun that causes our skin to burn. Even when the UVR isn’t strong enough to burn us in an extreme way there is still UVR in the atmosphere. Whenever the sun is up higher than the horizon there is UVR around us, even on a cloudy day it’s still there, it may not be as strong but it’s still there. On these cloudy days when the UVR isn’t as strong the radiation still hits our skin and causes damage, not as extreme as being totally burnt but damage is still happening, people that don’t have XP have an ability to repair this continual damage that occurs every time we expose our skin to UVR.

The complicated but clever science bit! How does our skin repair the damage, I’m no scientist or doctor so this is how I understand how the repair happens and why it doesn’t happen to people like Livvy that live with XP.

When the UVR hits our skin it damages the DNA within it, our very clever bodies detect the damage and are able to snip out the damage and repair it, this is a process called nucleotide excision repair, it’s a process that happens over and over again all day everyday without us knowing or doing anything significant to aid it, it’s just our advanced bodies taking care of themselves through evolution, it’s truly amazing what our bodies do to keep us healthy. So how does XP and skin cancer fit into this amazing system that our bodies have to repair skin damage from UVR? People living with XP have a ‘fault’ in this repair system, if you think about the system in three parts 1. Finding the damage 2. Removing the damage 3. Repairing the damage, if there is a fault anywhere in this system the damaged DNA can not be repaired therefore the cells are left to become cancer cells.

I have obviously explained this in the most simplest way possible and there is much more science and lots of big words involved, but at the most simplest level this is what happens (or not as the case may be) to Livvy’s skin every time any UVR hits her skin, this is the reason for all her skin cancers and the need for such an extreme avoidance to the sun and also some artificial lights which also produce ultra violet light.

A question which I get asked time and time again (and I find I also ask Livvy’s consultants more and more often) is ‘why is livvy still getting skin cancer when we have a 0 tolerance to all UVR?’ Livvy was diagnosed just before her 5th birthday and she has just turned 8 therefore you could say she’s had three years living in a UV free environment, the problem is those first five years when we didn’t know that xeroderma pigmentosum was even a thing, we spent hour after hour outdoors all year round causing untold damage to Livvy’s skin, at the time we had no idea of the danger Livvy was in, at the time there was no way of telling, it was only when she developed her first skin cancer at the age of four that we realised what was going on and what the future held for our daughter. 5 years is a long time and a lot of exposure must have taken place, so much damage occurring before we had a chance to protect her, it’s all that old damage still coming through as skin cancer three years later. Damaged cells hiding just under the skin only detectable once they grow and develop into a visible lesion on the skins surface. Genetics I believe have also played their part in Livvy’s unprecedented number of skin cancers (XP is a genetic condition by the way but I don’t mean those genetics) Livvy was born with gorgeous blonde hair, she also has blue eyes and fair skin, genetically she was possibly more prone to skin cancer, without XP she still ticks many boxes that make her more vulnerable to the suns rays, she naturally has less melanin than others, natures natural protection from the sun. I believe she’s been dealt a double hand of bad luck when it comes to skin cancer.

What does the future hold for Livvy? Another question which I get asked a lot is ‘will she grow out of it?’ ‘Will she still have to wear her mask when she’s an adult?’ No she won’t grow out if it and yes she will still have to protect every inch of her skin from UVR or get more skin cancers, it’s as simple as that. In February I wrote a blog post called  The sun will always rise in the East  which explains how Livvy will never be without XP, click the link if you fancy a read, I think it explains well what the future holds for our daughter.

So that’s it in a very small nut shell, I could go on and on explaining in more detail about Livvy’s condition but I think I’ve covered the basics well, I could explain how there are 8 different types of XP and that Livvy has XP-C but I don’t want to over complicate things. I hope my short explanation of Livvy’s condition has given my new and old followers a little bit of insight into why we protect Livvy from the sun in such an extreme way and also why she has had so many surgeries to remove skin cancer from her face.

Xeroderma Pigmentosum, two words which I had once never heard of have caused untold upset and ripped through our hearts and minds, turned our world upside down and smashed everything we knew about the world into a thousand tiny pieces, all we know is we can’t change the hand that we’ve been dealt we just have to find a way of coping with this rare and extreme condition – Xeroderma Pigmentosum.

 

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