Founding PIXIE

Elspeth Lax founded PiXiE in 1984 to support PXE sufferers and their families. Since then, she has become actively involved in promoting research into the disease and raising awareness among the medical community.

Elspeth and her father with former President George Bush

I was diagnosed as having PXE when I was 23 at my local hospital. However, when I was 26 I went for a second opinion and was told I would be blind by the time I was 40, my stomach would split open if I got pregnant and I had to leave the police force as it would be too dangerous a career in which to remain in case of head injury, in which case I could lose my vision straight away. Having felt suicidal, I wasn't going to let others with PXE suffer the same way I had.

By this time, I had the support of a very good friend (Amanda Field), who also has PXE. We then came across someone else with PXE who we met at the hospital. Amanda and I started talking to the man sitting next to us who was holding a folding white cane. He liked the colour of our clothes. He said he couldn't see our faces but the colours were very vivid. We were a bit taken a back, as it seemed strange that he was attending a dermatologist and not the eye clinic - maybe he had come to the wrong place? Amanda said, "If you don't mind me asking, why are you here?'' The man turned round and said "I have a very strange skin thing and I have lost my vision.'' It turned out he had PXE too. I got up immediately and said I would be back shortly. Amanda came charging after me as I disappeared into the Ladies, as she knew I was extremely upset. I said, "Oh my God, if that's what's going to happen to us, I can't cope.''

Eventually, we had to go back as we didn't want to miss our appointment but instead of going in to see the consultant separately, we went in together from then onwards. That way we would both hear all the details of the story.
For a while, we kept in touch with the man we met. However, it wasn't easy as he said his wife wasn't too keen on us ringing him to see how he was doing. Unfortunately he has moved away since then and has not kept in touch with us but we are sure he is just fine, being a very strong willed character who is a real fighter for his rights as a visually impaired person.

It was in 1984 that I started the Support Group. After lots of discussion, Amanda and I set about designing a logo (the PiXiE) as it represents PXE and PXE is dominated by the problems we have with loss of central vision. So PiXiE was born. We now had a logo but shortly after that Amanda became pregnant which was wonderful news. However, it meant that I would run the Support Group alone. As the group took off, it meant I had to enrol the help of my parents).

In 1988, I went to work in the States and while I was there I got food poisoning which turned out to be the best thing that had happened to me. The company I was working for sent a car for me to take me to the local medical centre. While I was waiting to see one of the doctors, I saw that there was a dermatologist at the surgery so I asked to see him. I said I had a very rare skin disease so I was sure he'd want to see me and that I was from England so was there any chance I could see him as soon as possible before returning home within the next two weeks. The receptionist called and spoke to him and when he found out I had PXE and was from England, he said I was to go up to see him although I may have to wait 15 minutes and he'd fit me in to his schedule.

Unfortunately, there was very little information in the medical text books he had but he did give me photocopies of what he could find. When I got back to my apartment that evening, I started to read the information. It was most distressing and the photographs of people with PXE were of the worst cases I have ever seen. I remember reading about vision loss and it said people went blind too. Now we know this is not true but at the time I couldn't read any further because I was crying so much.

However, the good news was that the dermatologist told me that there was a book written on PXE by Prof KH Neldner who was from Minnesota but had moved to Texas to work, and he promised he would send me a copy. As I was the first person he had seen with PXE, he was keen to help in any way he could so he sent a copy of the book to be as a present.

As soon as I got back to the UK, the book was waiting and I had several new PXE sufferers calling me for support. The problem was that the majority of calls were from people who had or were losing their central vision. I was really upset, so much so that I decided to call Dr Neldner immediately. It was amazing, I got through straight away, I told him I had PXE and I was trying to support others with it and had been since 1984 but they mostly suffered from eye problems. I told him my fears and that I had been told I would be blind by the time I was 40. What an amazing man. He told me not to worry and that no one ever goes blind from having PXE but that they can lose their central vision.

In August 1991, having kept in touch with Dr Neldner, he suggested I go over to the States to visit him so he could carry out various tests to see what my PXE was like. I told him that I couldn't afford to go as I had been made redundant so until I found another job and had been in it for some time I wouldn't be able to visit. By then we had 54 members and I told him I wanted to set up a conference so, as I couldn't go to visit him, he suggested that if I could get everyone together, we should hold the conference on the 4th November. This wasn't giving me a lot of time but I knew I could organise everything as it was of great importance to us all.

This was to be the first PXE conference of its kind in the world. It was a very emotional day for everyone I am sure, especially me, as I couldn't believe that so many people with the same disease were all together sharing how they felt. Even more wonderful was that Dr Neldner had travelled from the States to be the main speaker. We shall always be indebted to him.

In May 1995, I was presented with a President's Award for Community Service from Nortel. Unfortunately, my mum (Margaret) never got to see me being recognised for all the hard work I put in over the years for PXE as she died in March 1994. As I was allowed to take somone with me to Athens to collect my award, I took my dad, Bernard. After spending a couple of days in Athens we then went on a cruise around the Greek Islands and into Turkey. This award not only recognised me for what I had achieved so far but also gave me confidence for the future.