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Epidermolysis Bullosa

I think sometimes I must appear as a fickle changeable character. There I was doing all them triathlons and then that stopped and I got fat. Then I was teaching and left the classroom. It wasn’t really like that and here’s the story behind it. It’s my version of events, I’m sure others will see it differently.  I thought I’d write it all down here then hopefully I’ll never have to repeat it again!

I suppose it started when I was born in that apparently I had some lumps under my skin that they cut off and analysed but at the time they didn’t know what it was. I also developed rather strange toe nails that are very thick but not fastened in properly so they can easily be pulled out. Hence I don’t really have proper toe nails. When I was at junior school I used to get terrible bloodblisters, especially on my ankles. These went when I was diagnosed with epilepsy and given phenytoin, but at the time we thought this was just adolescence causing changes to my body. This first paragraph is a little disjointed but all will become clearer as we continue…

So one day I was running after Sandra, who was in the car, fairly flat out, and I just couldn’t get enough air. I’d been doing a lot of triathlons and I was very, very fit. But I just kept gasping and air seemed in short supply. I barely slept until Monday morning when I went to see a doctor, he said “you’ve got asthma”. I said “I’m not asthmatic”. He said “you are now”. This was a bit of a shock. I’d been suffering from hayfever and I’d asked my doctor (not the one just mentioned) for some treatment for it and she just told me to go back to the chemists. That had, in my opinion, led to the asthma and then that was treated with steroids.

Well I’d had this itchy spot on my legs and with the steroids it just seemed to get worse and worse. It started spreading around my leg and then broke out on the other one. I went to see my doctor. Got some cream. Didn’t do anything. I got referred to a dermatologist. In the meantime I went online and looked things up. I reckoned I worked out what it was – epidermolysis bullosa. This was based on what I could see on my legs but also family history that suggested my nan had had a similar problem.

I went to the dermatologist and told him what I thought. No, he said, that’s very rare, it won’t be that. They performed a biopsy. I went back, turns out I was right. No worries I thought. Give me the medicine and I’ll be off. There’s no cure he said but you might try this and that. So every three months I went back, it seemed more to show off the ailment to trainees than to get treated.

I got a bit sick of this and being a physicist decided to start doing some research. I started reading medical books and papers from medical journals. I came across an interesting paper that said phenytoin (see paragraph 2) had been used in a study with some success. I took the paper to the dermatologist. He said he’d have a look. Keep in mind now it’s 3 months between appointments, I have swollen legs and struggle to walk and my skin on my lower shin keeps blistering (like the size of the palm of your hand). Of course as I’m struggling to walk I clearly aren’t running and I can’t swim as I have open wounds.

I go back and the dermatologist says he’d found another paper that had different results for the phenytoin. I took this away and had a good look. They’d used people in the trial that they knew it had previously not worked on. So that would skew their sample and meant their results were invalid (like me at the time).  I went back and pointed this out and the dermatologist said okay, lets try the phenytoin. Go and get your previous dose from your GP.

I got to my doctor, now clearly in pain (me, not her) and told her what I needed. So she said “why can’t I just prescribe this for you now?” (Hurray! I though..). So she did and I started taking them and the swelling went down and now my legs were much better.
But I still had a lot of blistering. A bit later I started to look at the problem which is that my outer layer of skin doesn’t produce the necessary links to the lower layers. A knock and the skin comes away and blisters. I have a deficiency in a gene that produces collagen. I wondered what food contained lots of collagen. Jelly as it turns out. So I started eating a block of jelly every day. Now the blistering has nearly stopped. If it wasn’t for the damn EB breaking out on my feet now I’d be almost back to normal.

That’s the story of how my life changed. It’s been a bit tough at times. But having done the research it made me realise how lucky I am. I only have it on my legs. Some people have it all over. Inside and out. Can you imagine your skin constantly bringing you pain? Don’t go looking this up on the internet unless you have a strong stomach. I find it difficult to imagine anything quite as bad. So don’t go feeling sorry for me, I’m a lucky one, make a donation to DEBRA instead: http://www.debra.org.uk


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February 2014
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