‘Live the life you were meant to live’

Dayton resident shares story of living with Turner’s Syndrome

By Megan Hopps

SUN PRESS Newspapers

 

Growing up, Dayton resident Robyn Thompson knew she was different.

“I hadn’t grown for two years,” Thompson said. “That’s when they knew something was wrong.”

When she first started visiting the doctors, they thought perhaps the reason she wasn’t growing at a normal rate was genetic.

And they were right.

“I remember looking at my records and they said ‘Turner’s Syndrome,’ ” Thompson said.

Turner’s Syndrome is a chromosomal condition where all or part of the second sex chromosome is absent, thus, altering development in females. Women with this syndrome tend to be shorter than average and usually unable to conceive children because of an absence of ovarian function. Girls born with Turner’s Syndrome often are not diagnosed before the age of 3 as their growth patterns are seemingly normal for the first few years of life. After that, their growth rate slows. Oftentimes once Turner’s Syndrome girls hit puberty they do not have a normal growth spurt.

“To help me grow, my endocronologist did a lot of work with HGH (human growth hormone),” she said. “Of course, back in ‘72 HGH ran about $800 a bottle. We couldn’t afford it, but it only made the difference of about three inches. I’m 4-foot-7 and the hormone would have maybe put me at 5 feet.”

Non-functioning ovaries are another symptom of Turner’s Syndrome. Normally, a girls ovaries begin producing estrogen and progesterone at puberty. This does not happen for most girls with Turner’s Syndrome without the help of hormone treatment. As a consequence, most girls born with this syndrome are infertile.

“Only two percent of women diagnosed with Turner’s Syndrome can have children,” Thompson said. “The hardest part about it is explaining that to someone you’re dating.”

Turner’s Syndrome occurs in one of every 2,500 births, but is much more common among pregnancies that do not survive birth (miscarriages and stillborns).

“A lot of couples are asked if they want to abort the pregnancy,” Thompson said. “Girls born with Turner’s Syndrome usually have a lot of health issues. That’s why they offer that option.”

Other features of this condition vary among women. These may include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities and kidney problems. Women with this condition are more likely to have heart problems, develop scoliosis, eye problems, high blood pressure and diabetes.

“The heart is one of the biggest things they worry about,” Thompson said. “At this point, I really dread going to the doctors, they find something new every time I go in.”

Over the years one of the things Thompson has had to endure because of Turner’s Syndrome is ruptured ear drums.

“As a kid I had lots of ear infections and experienced hearing loss,” she said. “I remember the first time I was fitted for a hearing aid. I stepped outside and I heard the birds again. I had forgotten what that was like.”

But Thompson isn’t one to feel sorry for herself.

“When I was a kid I was made fun of in school,” she said. “I knew a lot about medicine, my doctors were really honest with me about my condition and I just figured kids wouldn’t understand. It didn’t matter though, I had a few really close friends in school. I knew I could do anything they could.”

Though Thompson admits, everyday tasks can be a little harder when you’re shorter than average.

“Grocery shopping can be difficult if I need to reach something on the top shelves,” she said. “And finding clothes that fit well can be challenging. I’m a size 14 in children’s and trying to find anything adult-like is tough. Most of the time I have to get my clothes altered.”

Thompson has taken measures to make things easier for herself and says being short can have its perks.

“I have a step stool in just about every room in the house,” Thompson said. “That makes things easier. And I don’t have to worry about hitting my head on kitchen cupboards that have been left open!”

Despite setbacks, Thompson remains positive about the future and inspires other women with Turner’s to chase their dreams.

“My friends know that I’m the first one to crack a short joke,” Thompson said. “I’m okay with who I am. You never know what hand you’re going to be dealt with in life. But we can persevere. We can do anything. I want to encourage others with Turner’s Syndrome to know where to find information, be your own self advocate, do your research and for goodness sake, live the life you were meant to live.”

 

Contact Megan Hopps at megan.hopps@ecm-inc.com

 
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