In the beginning

When I was about 12 years old I found this patch of skin on the back of my neck that didn't quite feel right. It was bumpy, but not red. At the time I didn't know what to think or do about it so I left it alone, never telling my parents. Then I noticed the patch of bumpy skin again when I was about 16, it had gotten larger and started to wrap around the back of my neck. So, I finally decided to make an appointment at a dermatologist, I though maybe they could give some type of cream or pill to just make it go away. I wish it would have been so simple. The Dr. had never seen anything like it, so they needed to do a biopsy. Not words you want to hear, ever, but especially when your that young. When the results came back they told me I had a VERY RARE genetic condition called Pseudoxanthoma Elasticum also known as PXE (more info at pxe.org & pxenape.org). They told me that this was a connective tissue disorder (they have since changed their mind, it's now classified as a metabolic disorder) and that it affects my eyes, heart, veins, arteries, stomach, and skin. Then they brought in a camera and a team of Dr.'s, not ones that were there to help, ones that were there to look. This was very intimidating to me at the time. None of them had ever seen anyone with PXE, since we're so rare (I still haven't met anyone in person who also has PXE). They told me I could lose my vision at any point and that other things were probably going to go wrong with my heart too, but they didn't know how to predict if or how it was going to affect me(Dr.'s still don't know what to do with me). I was advised not to take part in any activities where I may hit my head since this "may or may not" speed up the process of going blind. This was not news that was easy to hear. Especially as a visual artist! As a child art a music were always a huge part of my life. I started with a passion for ceramics, and by the time I was 14 I had an opportunity to take a Jewelry class at my High School. Creating silver jewelry became my life's purpose. It's all I did, and I thought it was all I would ever do. I wanted to open a custom handmade jewelry store...going blind wasn't part of the plan! Yet here I was being told that could happen at any day!
I had a very important decision to make that day... do I become a victim and wait to go blind, or die, without doing the things I love? Of course not... that was NEVER an option for me. I was not going to change who I was based on something that "may or may not" come true. The next day I left for 2 weeks of water skiing, something I was "advised" against doing. I continue to live a very active life, participating in many "dangerous" activities for someone with my disorder. I am determined to do anything and everything I want to, I would rather go blind and have life experiences than see and sit on the couch doing nothing. The best gift PXE gave me was to value all that I see and all that I do, to really learn to live in the moment!