A Word From the Board - Judy Williams

 

"The more I helped others, the more I was helped."
by Judy Williams
PXE International Board of Directors


Well, I'll start at the beginning, which is probably the best place to start, isn't it?

I was born 57 years ago, the eldest child of a two-child family. My sister is three years younger than me and also has PXE. Our parents aren't affected, so the story seems to go in so many PXE affected families.

When I was 11 my mother and my paternal grandmother both started taking an interest in my neck. They were constantly telling me to wash my neck but then again so are so many others, aren't they?

I married Allan at the age of 18. Yes, I know I was a baby BUT we are still happily married I´m very pleased to say. After three years we were lucky enough to have a son, Kevin – we were so happy. Then I couldn´t have another child, and we were advised to adopt. Three years later our names finally came to the top of the adoption list and we were lucky enough to be given our very precious daughter, Claire. She was born at 28 weeks and we had a very worrysome time with her until she was about two years old and a very healthy little girl she was.

During her first two years, I had to take Claire to the hospital every few months to have her checked, and she was always well. But one day at one of these appointments Claire´s specialist asked me if I knew what was wrong with me. I said no. I told him I had seen a dermatologist at the age of 11 who did a biopsy, which he sent to Switzerland as they didn´t have the correct instruments to test in South Africa. When the results came back, my parents were told that I had a rare condition that I had “caught” from a family member. Well, that threw the cat amongst the pigeons. From then on I felt responsible for causing the fights in our family, your family caused it, no yours did. It was awful being a young girl in the middle of all of this. Bad enough to have a skin problem.

Anyway, the specialist then told me he was sure that I had pseudoxanthoma elasticum. (Horrors! Imagine having something with a name that you can´t even pronounce!) He then introduced me to a geneticist, Denis Viljoen, who in turn introduced me to Sister Anna-Susan Marais who runs the South Africa Support Group Office of PXE International.

From then on things started moving. Pat and Sharon Terry traveled to South Africa to find out more about the Afrikaner PXE population. I met them and Sharon asked me if I would start a support group in Durban, South Africa. I agreed. It was the first time I had felt like a ‘normal´ person and I wanted others to feel the same way. I was given a T-shirt that said, “PXE means never having to say Pseudoxanthoma Elasticum.” That was wonderful.

I finally started to live my life like all others do, no more apologizing for being different. Life was wonderful, and starting up the support group was great too. The more I helped others, the more I was helped by talking about this problem. I have also made some really good friends within the group. We all seem to be the same type of people – quirky, funny, weird and yes, sometimes sad, BUT none of us let PXE get us down for long. We support each other whenever and wherever we can, and that makes a big difference.

About nine years ago Sharon Terry approached me and asked if I would like to be on the Board of Directors. I jumped at the honor. Being one of the PXE International directors is wonderful. My only sorrow is that I live so very far away and am unable to attend the directors meetings in person.

My wish for PXE International is that we all stay as close as we are, even if it is by telephone or email. Even if I say so myself, I think PXEers are great – we are so happy, supportive and caring, what else could we want? Oh yes, with all the wonderful things that are being tried and tested for us, one day PXE won´t be the sad news it is these days. We will have our vision, and life will be wonderful for us all!

Judy Williams

[August 2009]