Turner Syndrome is a rare chromosomal condition that affects 1 in 2,000 women.
HOUSTON — This Sunday is Rare Disease Day which is dedicated to raising awareness about some of these conditions and the impact it has on patients’ lives.
For instance, Charity Watson has lived her entire life with a genetic disorder known as Turner Syndrome.
“Actually I was diagnosed back in March of 1977 when I was all of 13 months old,” Watson said. “It’s hard for me to trust new doctors, especially because you just don’t know. Well, what do they know about Turner Syndrome? What do they understand?”
Dr. Siddharth Prakash with UT Physicians and associate professor of internal medicine at UTHealth’s McGovern Medical School said Turner Syndrome is a rare chromosomal condition that affects 1 in 2,000 women.
Women diagnosed with it are born with one or part of one X chromosome instead of two.
Dr. Prakash said they are often shorter than other women and suffer from heart problems.
“They have abnormal enlargement of blood vessels,” he said. “They can have missing or extra blood vessels and they can have congenital heart defects.”
Dr. Prakash treats Watson. He said she had an abnormal heart valve and an aortic aneurysm.
“She underwent a lot of testing, and fortunately, we were able to find her aneurysm in time to have it repaired surgically,” Dr. Prakash said.
UT Physicians has the Turner Syndrome Adult Comprehensive Care Center dedicated to helping women find specialists who know about the condition and how to treat it.
Dr. Michelle Rivera is the co-director of the care center and concentrates on pediatrics.
“Starting in childhood there could be growth problems. In adults, there can be very different kinds of problems like diabetes and high blood pressure or heart disease,” Dr. Prakash said. “And then later, you can have problems like unusually brittle bones.”
While there is no cure for Turner Syndrome, Watson’s relieved she’s getting the care she deserves to live a happy and healthy life.
“Turner Syndrome women, girls and women are known to be overcomers and fighters,” she said.