I don’t know when exactly I was diagnosed with Turner Syndrome. I remember getting my cheek swabbed when I was 10 or 11, but I wasn’t told why. I didn’t actually hear the term Turner Syndrome until I was 15. Back then, there wasn’t much they could do for me, so I gladly closed my file in the Genetics department of the hospital when I turned 20 or so and went on with my life.
About 25 years later, in Dec 2010, I had this overwhelming urge to do research on this extremely rare condition, even though I had a book signing to prepare for, a trip back to Saskatchewan to spend Christmas with my family for the first time in 3 years, and a lot of other things on my mind. I wanted to wait until Jan, but God was constraining me to do it right away.
I learned that TS can be related to a host of other conditions: Diabetes, hearing loss (check), rheumatoid arthritis (check, although it’s not a high percentage), osteoporosis (check), short stature (check) etc, etc. When I read the Wikipedia article, I thought they were describing me. Except for the Diabetes, they were spot on.
TS results from a missing X chromosome, therefore, it only affects women. Scientists still don’t know why this chromosome is missing, but they say it has nothing to do with heredity. The thing I learned that really blew me away was that 99% of baby girls missing this chromosome end up being miscarried. I had a 1% chance of being born! I am still humbled by the thought.
I found an ad on the Canadian Turner Society’s website that said, “Calling all authors” which invited people to contribute an article telling their TS stories. I sent the editor an email asking if it was too late, and she replied that it wasn’t too late, but she would need my article by the end of the month. Then I understood why it was so pressing that I do the research. I was leaving for SK soon, and didn’t want my family time to be taken up with writing. I got right on the ball and sent my article the following Monday.
The editor invited me down to NJ to a Christmas party for TS women and their families. I had never met anyone else with TS, so I drove 20 hours to spend about 20 hours with her and her family, and it was worth every minute of driving and effort. Fortunately, it happened just before I left for SK.
For various reasons, the book wasn’t published right away, but we launched it in Oct. 2013, at a seminar on TS held in Boston. It was closer than NJ, and I had great weather for driving. Thirteen out of eighteen contributors were there, and it was a life-changing experience to meet these amazing women. One came all the way from London, another came from Kansas, so I was by no means the one who travelled the farthest.
The turnout was twice what I was expecting and, after our presentation, people went back to buy a second or even third copy of our book, presumably to give to their doctors.
There were two young mothers there who had recently learned that their very young girls had TS. Since the condition is so little known, these young mothers were frightened, wondering if their daughters would have normal lives, wondering how to meet their special needs, wondering how to avoid making mistakes in raising them. After hearing our stories, they felt better, and I had a chance to remind them that it is not possible to raise children without making mistakes.
We had two lovely, quiet evenings to get to know each other, and talk without being interrupted. I was struck by how similar my experiences were to the women in my age group, but how different our lives were from the lives of the younger women who grew up receiving Human Growth Hormone injections.
It was very difficult to go back to real life, and I was in a down all the following week. I asked God to give me something to look forward to, and a couple of days later, I got an email from the editor saying that she had been invited to present the book at the Canadian Turner Society national conference, in Montreal, in May. She thought that I should go, too. I wrote back to say that it was too far for me to drive, but she knew I was only joking, (I live in Quebec City). I have now made my arrangements, and am psyched to go.
If you will be in Montreal on the last weekend in May, please contact us through our facebook page to get the coordinates, and come see us at the conference. Even if you won’t be there, please visit our facebook page anyway and see the stories that have been posted there, and the interesting discussions.
I’ll tell you more after the conference.