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Update on my rare genetic condition - #EPP
20 October 2016

NEWS UPDATE ON EPP (16th Nov)

Another update for you - I was sent the results of my blood tests, and it turns out that there's this measurement of how much 'protoporphyrins' are in my blood, compared to the norm. Well most people will have less than 0.2 (of this specific protoporphyrin measuremnt) - well my measurement is 14.7. That's about 73 times the norm. ~So yes, I definitely have EPP. (see below if you haven't yet read about my rare genetic condition.)

Dr Robert Sarkhany also told me that because of the odds involved and the rarity of what I've got, whilst both my kids don't have it, thank goodness, their own children only stand a one in 80 chance of getting it.

Plus mine is only mild, again thank goodness. He told me that there is a drug that's now been licensed but it costs a fortune, an implant under the skin, and by February NICE will have given their verdict on whether the 250 or so sufferers in the UK would be able to be given it by their doctor. Interesting. And he gave me a 'prescription' to go to St Thomas's hospital dispensary to ask for some thick gunky sun cream, that doesn't block 'UVA UVB' which most do - it blocks VIOLET light... Will keep you informed how I get on!

d

x

 

 

EPP update

This week I went to see the expert in EPP, my skin condition, which I first told you about a couple of weeks ago – for the full info about my first post see below left. If you don't know me well and haven’t heard, I just discovered recently about the condition that’s plagued me since I was two - where my skin gets burning hot if I stay too long in the sun.

So the first dermatologist sent me along to see Dr Robert Sarkaney, the country’s foremost expert in this rare genetic condition called EPP – erythro-poietic Protoporphyria – and the apt was this week. He is based in a wonderful relaxed calm setting in Lister Hospital in Chelsea, near our old QVC building! (Well the place it used to be, it's flats now) He then, for the first time in my life, explained to me how EPP works

 

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I have to have inherited a gene from both my parents, that's why it is so rare, only 250 people in the country have it, he thinks, and one of them is me. Always knew I was unique! Lol.

One parent’s gene has to be faulty and the other has to be not working at all. That's how someone gets what I get. So both my parents would themselves have had no problems in the sun because they also had a second healthy gene  that was absolutely fine. He asked if anyone else has it, b ut no, I’m the ‘lucky’ person who inherited this awful skin problem.

Normally I can't go in hot sun for longer than about three or four minutes before it starts feeling like it's burning. If I stay in it too long, it swells up – the backs of my hands go all gel like and puffy and it burrrrns like crazy!  I always just thought it was sensitive skin. But it's this unusual situation under the skin where chemicals are interacting with a part of sunlight.

I’d have guessed it was something to do with UVA or UVB but apparently it’s not. They think that it's actually violet light, as in the violet end of the rainbow. What happens is that it creates a chain reaction inside my skin with a enzyme which is missing called Ferrochelatase. This has to be present to change something called ‘protoporphyrins,’ into  ‘heme’ as in haemoglobin
. But in my skin the process doesn’t work – hardly at all it turns out – so  because my protoporphyrins don't get converted  I  end up with a build up. These protoporphyrins coat  the insides of the tiny tiny blood vessels just under my skin. On the hands and feet and face the skin is skinner – Alison Young was always right! And it's because it's so thin that the violet light gets through when it's exposed to the sun for too long and this creates a catastrophic breakdown of the tiny blood vessel walls. Because there is no blood vessel any more the pain is excruciating. What also happens is that anything that should have been pumping through the blood vessel has nowhere to go, so my hands puff up because of all the fluid that should have been contained in the blood vessels. It takes two days for it to go back down again because that's how long it takes to regenerate new blood vessels.

The pain during that time is like putting your hand on an iron - it really is that hot. And now I know why. There is no known cure, but he's going to see me again after blood test to tell me more about what tiny things we can do to mitigate and lessen the photosensitivity. I told him how Ultrasun 50 definitely feels like it helps me. Maybe they’ll do something one day which blocks some of the violet light as well
, who knows. I must ask Abi Cleeve :-)

It feels good to know I'm not the only one in the country, not alone. Have you ever felt that if you discovered and illness? One of my closest Friends has something called IIH. And she and I chatted about how comforting it was just to discover what it was even though not a lot can be done about it.

One day they may have developed a drug which helps. Apparently during pregnancy it doesn't happen. It was so long ago for me,  I don't remember to be honest. But it would be great to think that at some point in the future I can possibly get a holiday booked in the red Sea or the Maldives and know I can do all the sports activities
, diving et cetera and be like a normal person. But having stayed out of the sun for so many years my skin is reaping the rewards, so I have to look on the bright side. People who know me know I always do!

This week I went to see the expert in EP p, my skin condition, for full info about my first post go here. If you don't know me well this is where my skin gets burning hot if I stay too long in the sun.

So I saw Dr Robert so Caney, the countries for most expert in this disease called a PP in a wonderful relaxed calm setting in Lister Hospital in Chelsea, near our old building! (Well the place it used to be, it's flats now) he explain to me how a PP works

I have to have inherited gene from both my parents, that's why it is so rare, only one in 250 250 people in the country have it he thinks, that's her where I am

One parents Jane has to be faulty and the other has to be not working at all. That's how someone gets what I get. So both my parents would have had no problems in the sun because they also had a second Jane that was absolutely fine, and on the lucky person who inherited this awful skin problem.

Normally I can't go in the sun for longer than about three or four minutes before it starts feeling like it's burning. I always just thought it was sensitive skin. But it's this unusual situation under the skin where chemicals are interacting with a part of sunlight.

I thought it was the usual UVAUVB. But it's not it's actually violet light, as in the violet end of the rainbow. What happens is that it creates a chain reaction inside my skin with a enzyme which is missing coffee row Kiliti is. Favourite killer tase is supposed to help produce blood cells, as in haemoglobin, the Haim part of haemoglobin, with something that we all have in our body is called protoporphyrins. But because my protoporphyrins don't get converted because there is not enough for you Sarah Katie is enzyme, I end up with a build up. These protoporphyrins line the insides of the tiny tiny blood vessels just under my skin. On the hands and feet and face the skin is dinner – Alison Young was always right! And it's because it's so thin that the violet light gets through when it's exposed to too long and creates and catastrophic breakdown of the Bblood vessel wall. Because there is no blood vessel any more the pain is excruciating. What also happens is there anything that should have been pumping through the blood vessel is now no no come on nowhere to go, so my hands puff up it's all the fluid that should have been contained in the blood vessels. It takes two days for it to go back down again because that's how long it takes to regenerate new blood vessels.

The pain during that time is like putting your hand on an iron it really is that hot. And now I know why. There is no known cure, but he's going to see me again after blood test to tell me more about what tiny things we can do to mitigate and lessen the photosensitivity. I told him how old son 50 definitely feels like it helps me. Maybe I'll do some blocks some of the violet light as well who knows. I must ask Abi Cleeve :-)

It feels good to know I'm not the only one in the country, not alone. Have you ever felt that if you discovered and illness? One of my closest Friends has something called I H I H I R I H. And she and I chatted about how comforting it was just to discover what it was even though he is not a lot can be done about it.

One day they may have developed a drug which helps. Apparently during pregnancy it doesn't happen. It was so long ago I don't remember to be honest. But it would be great to think that atat some point in the future I can possibly get a holiday booked in the red Sea or the Maldives and no I can do all the sports activities diving et cetera and be like a normal person. But having stayed out of the sun for so many years my skin is reaping the rewards, so I have to look on the bright side. People who know me know I always do!

Anyway I will keep you informed of any news.

Best wishes

Debs

x

 



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