Early diagnosis enables Turkish woman with Turner syndrome to achieve her dreams

IZMIR, Türkiye

Born with Turner syndrome, which causes short height, heart and bone diseases and reduced life expectancy, Ece Belginer Ergir leads a healthier life by virtue of early diagnosis.

Ergir’s family took her to the Medical Faculty of Istanbul Capa after realizing that Ece, whose birth length was 43 centimeters (16.9 inches), had stopped growing taller during her infancy.

She was only 3 years old when doctors at Istanbul Capa diagnosed her with Turner syndrome, which affects only females.

Thanks to regular medical follow-ups, Ergir’s doctors managed to protect her from bone and internal organ damage, and their strict supervision enabled her to grow to 155 centimeters (5.08 feet) during her university years.

After graduating from the Textile Technologies Department of Yalova University, she got a job in a call center of a bank and tied the knot with her associate Mustafa Ergir eight years ago in Izmir.

Happily married, Ece, 31, recalls the discrimination she suffered from her close relatives during her childhood due to having Turner syndrome and now she continues to serve as a beacon of hope for girls and women struggling with the condition.

‘Strong enough to stand on my own feet’

Ergir shares her experiences in social media groups and encourages girls and women who have the condition to fight against the syndrome.

Speaking to Anadolu, Ergir said she spent her childhood in hospitals due to Turner syndrome and faced difficulties in her social life.

But now “I am strong enough to stand on my own feet,” she said.

She didn’t give up in the face of the difficulties, completed her education, married the love of her life, and is working at a good job, Ergir said.

Ergir highlighted that she overcame the difficulties with the support of her mother.

“I have reached a height of 155 centimeters thanks to my mother. I did a lot of research on the syndrome, which brought me to where I am today.”

Her husband Mustafa said: “I will be with her until my last day. She has some disorders related to the syndrome, but it is not difficult for me. People should not see this syndrome as an obstacle to love.”

Prof. Bumin Dundar of Katip Celebi University, who heads the Turner Syndrome Study Group of the Turkish Society of Pediatric Endocrinology and Diabetes, called for genetic testing to be done so that the condition would not “go unnoticed.”

Dundar stressed the importance of early diagnosis of the genetic disorder, which is diagnosed in every 2,000-2,500 girls, noting that Ece, who had increased her overall living comfort, is a good example in this regard.

Dundar said Turner syndrome means a complete or partial deficiency of an X chromosome and that patients can only grow up to 140 centimeters (4.59 feet) if untreated.

The syndrome shortens the lifespan by 10-15 years and life expectancy is prolonged in individuals who are diagnosed and treated.

“Early diagnosis and treatment is extremely important for improving the quality of life and prolonging the lifespan of children with Turner syndrome,” he said.

As Jan. 10 has been designated by society as Turner Syndrome Awareness Day, he said they continue their activities as part of a project called “From Little Girls to Great Tomorrows.”

• Ece Belginer Ergir
• Katip Celebi University
• Prof. Bumin Dundar
• Turkish Society of Pediatric Endocrinology and Diabetes
• Turner Syndrome