Being a Pixie

I am a Pixie.
I have Psuedo Xanthoma Elasticum or PXE for short (www.pxe.org). We are known as Pixies. I like it. And, I like being a Pixie.
PXE is a very rare genetic condition that effects all of the elastin tissue in the body. Because it is so rare, it, for the most part, is still not fully understood but it appears that there are different severities. It also seems that not all pixies will develop all of the characteristics.
I, for example, do not experience Gastro Intestinal bleeds, nor have I (knock on wood) had an eye bleed yet  (although this could also be attributed to my early diagnosis.)

I was flookishly diagnosed at age 2, by a random doctor at the RBCH when mum had me there for a fever. I had a "flare-up" on my neck that we had been told was excema but just wouldn't go away. The doctor noticed it and referred mum onto a dermatologist, Dr Casey, my first specialist (of close to 60 now) who confirmed that I was indeed a Pixie. At that stage, I was only 1 of 10 known pixies in Australia!!
I was special, just not in the way mum and dad had hoped.

Over the years and the hundreds of doctors appointments later, along with alot of wrong information, my PXE developed, and as it did, it also developed me.
We were told I wouldn't live past 15. That I would be blind by 20. I would be in a wheelchair by 25. A am 34.5 now, and whilst I do have vascular claudication in my legs, peau de orange and 3 angoid streaks in my eyes, and the typical pixie "chicken skin", I live a perfectly normal life. I don't blame the doctors for telling us this mis-information, there simply was not enough research to know any better.

For me, the hardest part of being a pixie was watching my mum battle with guilt at every doctors appointment. It got to the point, when from about the age of 12, I refused to let her come in with me. I would go in, speak to the doctor, then filter the information to her. It wasn't her fault and I felt so guilty that my disease, that my existence made her feel so bad. I really wouldn't wish that guilty feeling on any parent, or any child for that matter.

To be 100% honest, I am proud to be a Pixie.
Unless you are told from a very early age that you will not live, I don't really think you can fully understand how happy I am when I wake up every morning.
How happy I am that I can see my family and friend's smiles.
How happy I am that I can walk.
How happy I am to be me.

PXE really has shaped who I am in every aspect, even though I now know that my life expectancy is the same as everyone else's - ie, not-guaranteed. I do not put anything off to tomorrow that can be done today. I guess this is why I travel so much. I may very well go blind tomorrow, well I'm going to damn well see as much of the world as I can before that!
I guess that's also why I have never really been very career- driven. I was lucky enough to be a pretty smart child, but not knowing how much longer I have on this planet, makes me value each and every day. I refuse to be locked away in an office for 51 weeks a year. No thank you.
But so many people are and this baffles me?
Yes, I know my heart may stop tomorrow, but nobody has a guarantee their's won't either? I might be hit by a bus and die a completely non-PXE death!? Who knows!?!?
I guess I am just more aware of my own mortality and that has made me who I am. I am more in control of my life and how I want to live it.

Granted, there are alot of Pixies in far worse condition than me. People who weren't lucky enough to be diagnosed early enough to take preventative action so they didn't end up suffering from GI bleeds, or they didn't get a bump to the head that sent them blind.
I am very blessed.

But, if there was a magical drug available tomorrow to cure my PXE, I would not take it. I feel I would be robbing myself of myself, if you know what I mean. Yes, I guess my life is slightly different to other's but on a subconscious level. But it is still my life.


The real question is - to reproduce or not.
I am a firm believer in "natural selection." I believe that humans have evolved because only the strongest survived.
Do I think of myself as strong, well not necessarily.
In this day of ante-natal testing and IVF testing, I have many times wondered, if these technologies were around when my mum and dad conceived me, if I would be here now.
Would the doctors have recommended an abortion to my mother because their daughter was going to be born with a faulty ABCC66 gene, and they had no idea what that meant. She might end up blind and with a whole barrage or problems, but then again, she might not? What would my parents have chosen to do?
I am sooooo thankful they never had to make that decision.

Yes, I AM faulty, by "normal" standards. But what is normal?
I feel I have contributed to society, but is that enough to make me normal? One look at my medical history is enough to make most doctors cringe. In actual fact, most doctors have never heard of PXE.

My Cardiovascular specialist told me that I was eligible for "genetic testing" and that he recommended Mr Man and I undergo this before we considered starting a family so we knew what the possibilities of having a pixie child were.
PXE research shows that there really isn't that much of a risk of passing it on. Even though I am a recipient of the gene, it doesn't necessarily mean I am a carrier of it as it is a recessive condition.
Still, we thought about it long and hard. Mr man originally wanted to test simply because that's what society told him to do - avoid "faulty" children at all costs.
I didn't want to.
I guess it is me being a chicken, or maybe even selfish, but I really did not want to have to make a decision about an unborn child's life.
I believe I was born for a reason, like every child is. I believe natural selection allowed me to be here, and if nature says I can reproduce, then I will.

That being said, if nature decides that my genes shouldn't be passed on, then so be it. We will adopt a child.
I am a product of natural selection, and I am proud to be a faulty one at that.

So, even though Mr Man and I have been on this TTC journey for 19 months now, we will not be going down the IVF path. Who knows, maybe nature already has made her decision? Maybe I am not meant to pass my genes on? Who knows, but atleast we have had fun trying! Afterall, that's what life is all about - having fun and sharing love.

Love from a Pixie.