Local women hope benefit will raise awareness for Turner Syndrome
Turner Syndrome brought them together, and now they stand united against the disabling disorder.
Ann VanGelder and Sara Hennessy – both born with Turner Syndrome (TS) – met four years ago.
“We had mutual friends but hadn’t met each other,” Ann, 30, explained. One Easter Sunday, Ann was talking to a friend after church and mentioned “something about … getting ready to go to the annual Turner Syndrome Society Conference which was in Portland, Oregon, that year, and Sara looked at me and said ‘did you say Turner Syndrome? That’s what I have!’ We talked for quite a while and have been friends ever since.”
TS, which can manifest itself in many ways, may include short stature, heart problems and edema and only occurs in females.
Sara, 27, was diagnosed at birth. She was born with swollen hands and feet. Today, she has a short stature, low hairline in back of her neck, lymphedema (swelling due to a blockage of the lymph passages) and thick hair.
Ann was diagnosed with Turner Syndrome when she was a young teenager.
“My mother questioned my pediatrician about why I had seemed to stop growing,” Ann explained, “so they did a bone age X-ray and it showed that I was a year behind my actual age. I was referred to a pediatric endocrinologist in Erie who suspected Turner’s and ordered a blood test to confirm the diagnosis.”
Ann went to an endocrinologist at Children’s Hospital in Pittsburgh and was put on daily growth hormone injections for about 18 months.
“I ended up being 5’2″,” she said.
Ann also has a high arched palate and has had frequent ear infections, all as a result of TS. Today she wears hearing aids because of the hearing loss she has suffered from repeated ear infections.
Sara has struggled with her short stature and a nonverbal learning disability (NLD).
“It’s not easy reaching for high things in a cupboard being short!”, Sara explained. NLD has led to problems in math, spacial relations, etc. “Math has never been my strong point!”, Sara said.
Because of heart defects, Ann had to have open heart surgery twice in one week.
When, shortly after they met, Ann and Sara went together to the conference in Portland, Dr. Michael Silberbach, a pediatric cardiologist who works closely with the Turner Syndrome Society and with girls with TS studying the heart defects that can occur, was offering free echocardiograms.
“I didn’t want one because I had had them in the past and nothing had ever been found,” Ann explained.
This time they found a lot.
Ann had a partial anomalous pulmonary vein connection.
“Basiclly your blood comes into the heart from your body on the right side, gets pumped to the lungs where it becomes oxygenated and the pulmonary veins bring it back to the heart on the left side to get pumped out to your body,” Ann explained. “I had one major vein on the left side that, instead of taking the blood to the left side of my heart, was taking it to the right side, so some of the oxygenated blood that should have been going out to my body was going back to my heart which also meant I had an excess volume of blood on the right side of my heart and it was slightly enlarged.”
Back home, Ann traveled to Pittsburgh Children’s Hospital, and Dr. Lee Beerman confirmed the diagnosis with an MRI.
“I had surgery on Oct. 19, 2009,” Ann said. The next day the surgeon repeated the MRI because he didn’t like some of Ann’s test results. MRI results were inconclusive so they did a heart catheterization which showed two more veins on the right side of her heart that were connected to the right side instead of the left.
“I went back into surgery the next day.”
Both Ann and Sara believe it’s important to further awareness of TS.
“I think it’s important to raise awareness of TS because it is not well known and because of that some girls will not get diagnosed until they are teenagers or even adults,” Ann shared. “Raising awareness and educating people about Turners means a greater chance of girls getting diagnosed sooner and getting the medical care they need.”
Sara hopes the medical community will become better informed of the “physical, psychological, emotional, social and intellectual aspects” of the disorder, she said, “especially with heart issues. Thirty percent of women with TS are born with problems affecting the structure of the heart. Furthering awareness will allow doctors to treat chest pain acccurately and quickly when it occurs.”
Ann’s biggest challenge so far? Dealing with infertility, “knowing I will never have my own biological child,” she said. But, “I have put my faith in God, knowing that He created me and I trust that even though I can’t have my own biological child that God has a plan for me to be a mom another way.”
Sara agrees. “I feel no matter the struggles or challeges women with TS face, it’s more important to know that God created us for a reason and we are human just like everyone else. We should take care of ourselves the same as everyone else should,” she explained.
Ann and Sara will host a community fund-raiser from 10 a.m. to 9 p.m. Tuesday, Feb. 26, at Bob Evans in North Warren. Bob Evans will donate 15 percent of sales to the Turner Syndrome Society of the United States. Flyers are available today at Bob Evans, or call 779-9599.