Sotara Barnaby, a 10 year old from Pablo, is the happiest girl you’ll ever meet, even though she suffers from a rare genetic condition called Rubinstein-Taybi syndrome.
The Shodair genetics team first evaluated Sotara when she was 6 years old because of developmental delays and short stature. They charted Sotara’s growth and development over the next three years and, as is the case with many genetic conditions, the features of Rubinstein-Taybi became more recognizable over time. Sotara was diagnosed in 2010 at 9 years of age with Rubinstein-Taybi. The diagnosis gave her family an explanation and a genetic basis for Sotara’s growth pattern and delays. The genetics team at Shodair also provided critical medical and developmental management guidance.
It has been estimated that approximately 1 out of 125,000 persons has Rubinstein-Taybi syndrome, a condition that occurs with equal frequency in both males and females. Symptoms and signs of the condition vary with each individual and can include heart and kidney defects, eye abnormalities, and dental problems. People with this condition also have an increased risk of developing cancerous and noncancerous tumors. There is also an increased risk of leukemia.
As one of her symptoms of Rubinstein-Taybi, Sotara has had some significant developmental delays and cannot communicate as easily as other children her age, and this difficulty in communication sometimes makes it hard for her to make friends and be accepted by her peers at school. Undaunted, she faces each day with a smile and is ready to make new friends.
Sotara has an engaging personality and a smile as big as Montana. She loves music, (Jonas Brothers & Hannah Montana), horseback riding along the Mission Mountains, doing physical therapy with her Wii, and participating in Native American dancing on the reservation with her grandmother.