A short story

My daughter has Turner Syndrome. Turner Syndrome is a rare growth disorder that affects one in every 2000 girls.
We found out last fall, when she was 11 years old. We knew that she was short, but we weren't too concerned. I guess it's a good thing that her pediatrician was concerned enough to send us to Doernbecher childrens hospital to see a pediatric endocrinologist, Dr. Madison. (cool, huh?)
Dr. Madison ordered tests and told us she suspected Madison had growth hormone insufficiency. She told us a little about Turner Syndrome, but no one really thought Madison had it because she doesn't exhibit many of the classic TS features: short, webbed neck; barrel shaped chest; and out-turned elbows. Madison just looks like a short little me.
I remember when Dr. Madison called with the diagnosis. She was so thoughtful and went to a lot of trouble to explain the diagnosis carefully, but to be quite honest, I didn't hear anything after "Syndrome". I had done enough internet research to think I knew that the news wasn't good.
Which brings me to the point of today's post. There is not a lot of TS information on the internet, and what information there is is often misleading, conflicting, discouraging and flat-out false. We waited a month for an in-person appointment with Dr. Madison to go over my daughter's treatment plan and prognosis, and also to have more tests for many of the associated medical problems that can go along with TS.
TS girls often have heart deformities. Aortic valve anomalies are common. Madison had multiple EKGS and a cardiac ultrasound. She has mild widening of her aortic root, but her cardiologist is not concerned. We are extremely fortunate that the cardiologist she sees, Dr. Michael Silverbach, has a particular interest in TS girls. He has authored or co-authored most of the research out there pertaining to cardiology and Turner Syndrome.
Another common defect is kidney deformities. Again, we dodged a bullet. Madison has two separate perfectly functioning kidneys. It is not uncommon for girls with TS to have one large horseshoe shaped kidney.
Hearing loss is also common. I have read that most of the adult women with TS use some sort of hearing aid. Spencer and I were certain that Madison had hearing loss... but it turns out it is only the selective hearing loss that most kids have.
Many girls with TS have learning disorders. Madison is a straight-A student who has been identified as intellectually gifted. She won her school's spelling bee. However, she has some problems with spatial things like tying her shoes. This may be part of Nonverbal Learning Disorder (Excellent spelling is a sign of NLD) , which has been linked to TS, but we aren't pursuing any type of treatment because she does so well academically.
What Turner Syndrome means for us that Madison will be significantly short, and her ovaries won't work. We give her human growth hormone injections every night, and they are working. When she reaches an acceptable height, (We are hoping for 5') we will discontinue the growth hormone and she will begin taking estrogen, at which point puberty will begin. Unfortunately for Madison, this may be 3 or 4 years from now.
It means she will not be able to get pregnant with her own eggs. If she chooses to become a mother, her options are adoption or donor eggs.

I know that there are parents out there like me, who are scouring the internet for any type of information. I am confident they will find this post. I hope that they see this and realize that there are a lot of variables, and every girl is different. I can say that some of the best TS info I have received is from other parents. There is a great TS group on Yahoo!, and the TS society has conventions every year. We will go this year, since it is in Portland. I am looking forward to it, and I know Madison is, too. Maybe we will see you there.