Health
1:02 pm
Mon February 17, 2014

State Draws Attention to Deadly Birth Disorder

A rare disorder that gets little attention and even less funding now has an entire month to build awareness.

The Pennsylvania State Senate has dedicated February as Turner Syndrome Awareness Month. Sen. John Blake (D-Lackawanna County) sponsored the resolution, which passed unanimously, to draw attention to the non-inheritable chromosomal condition that affects one in every 2,500 live female births.

Blake hopes this will give physicians and family members of those living with the disorder a chance to share information and personal stories with the public.

Turner Syndrome, which has no known cause, occurs when a girl is born without two X chromosomes. Most commonly, women with the syndrome experience ovarian failure and infertility, and sometimes congenial heart disease, osteoporosis, type II diabetes and obesity.

The affected girls are also at an increased risk of having non-verbal learning disorders, which "can cause problems in math, visual-spatial skills, executive function skills and job retention,” Blake said.

Other complications like growth failure, hearing problems and learning difficulties can be prevented by an early diagnosis, he said. A quick diagnosis can also prompt a complete cardiac screening, which could save lives.

Blake said that since only a small amount of funding is available for Turner Syndrome research, raising awareness could be the first step in helping the women suffering from the condition.

“With the help of medical specialists and a good social support system, a woman with this syndrome can live a happy and healthy life,” Blake said.

Surviving birth with Turner Syndrome is rare in itself. Only 1 percent survive full-term pregnancy.

“Dana-Lynne Bozym from Throop, Pa. is a proud mother to Carly Joy, a beautiful 6-year-old who was truly a miracle,” said Blake, who hopes she and other girls will someday benefit from Turner Syndrome Awareness Month.