Posted at: 02/13/2013 1:55 PM
Updated at: 02/15/2013 3:20 PM
By: Brittany Falkers
Katie Taylor is your average high school freshman. She is busy with cheerleading, theater practice, and, well, just being a teen.
"It's been pretty fun, I mean there's a lot more opportunities than middle school," she said.
When she was nine, Katie's doctors realized she wasn't growing as fast as other girls her age. Then, at age 11, she was diagnosed with something she'd never heard of, Turner Syndrome.
After the immediate shock, Katie's mom, Annie, says they started researching. "I know for me it was just finding out what it was," Annie said, "The more I found out the more I was relieved with it."
Turner Syndrome, or TS, as it's known, happens in one in every 2,500 female births, according to the Turner Syndrome Foundation. It's a random genetic abnormality in which girls are missing part or all of one of their x chromosomes, the sex chromosome.
Dr. Brad Miller says the symptoms are unique for each girl. He is one of the rare pediatric endocrinologist treating girls with TS in the Northland.
"Missing information on those chromosomes ends up causing some of the problems that girls with Tuner syndrome are afflicted by," Miller said.
He says the symptoms really vary, both mentally and in their growth. "You can sometimes recognize Turner Syndrome physically by changes in the bones," he said.
The most common physical trait of TS is being short, because one of the missing genes is one that tells puberty to kick in and is supposed to tell the body to grow.
So, like most girls with TS, Katie had to make a decision. To help kick start growth, did she want to begin the long painful process of daily growth hormone injections?
Annie says it took a lot of discussion to decide. "Explaining the pros and cons of the shots and for Katie her fear is shots," she said.
The earlier a child is diagnosed with TS the better chance for effective treatment, according to Dr. Miller.
"The later that you find out someone has TS the less that you can do from a growth prospective", he said, "There've been some studies in girls with TS that have shown treating toddlers to prevent that failure, kind of keeps them on that curve from the beginning."
For Katie and her Mom, the decision was not easy, but they decided to skip the injections, even though she's not likely to ever grow past 4 foot 8 inches. But they're both happy with their choice.
"I mean, she's happy with not having them and understanding that it might have given her an extra inch, inch and a half." Annie said.
It was a different path for the family of 19-year-old Becca Nygaard who started growth hormone therapy early in life.
"At age five I started on the growth hormone and I was continuing on that continuously for ten years," Becca said.
Becca's parents knew she was a Turner's girl before she was even born and made the choice to start treatment. "they started me on a hormone replacement regiment to jump start puberty," she said.
Although she struggles with joint issues, she says it's added inches to her height she wouldn't otherwise have had.
Being short might be the most common trait, but there are a lot of other symptoms unique to each Turner's girl.
"A lot of the girls have hearing problems, heart problems, things like that," Becca said.
Some physical symptoms can be more obvious, such as a webbed neck or scoliosis, but others have more serious internal complications that can lead to problems later in life. knowing the signs is important, according to Dr. Miller.
"Trying to identify it to make sure people are getting what they need is the reason why we want to bring it up and make people aware," he said.
It's been a long journey, but both Katie and Becca agree, TS is only a part of them. It does not define them.
"Most Turners girls try not to let it control their life," Becca said, "There's doctors who have Turner syndrome, even actresses, and judges that have turners.. And they've become very successful."
A message that both girls are trying to spread to others with Turner Syndrome. The message, that they are not alone and there is always support.