SHARPSVILLE — The issue of rare disease awareness is a deeply personal one to Dr. Tonia Skakalski.
Both she and her 8-year-old son, Scott, are living with one of those rare diseases — hypophosphatemic rickets. The ailment, which causes weakened bones and bowed legs, causes them to sometimes move with a side-to-side motion that she characterizes as a duck-like walk.
“Scotty and I joke about ‘quack-quack’ walks,” she said.
Skakalski is an obstetrics-gynecological practitioner with Steward Medical Group, which includes Sharon Regional Medical Center.
On Thursday, she marked Rare Disease Day by talking about the ailments to students, including her son and daughter, at Sharpsville Elementary School. While individual rare diseases are infrequent, she said it’s common to encounter one of the roughly 6,500 maladies that make up the spectrum of rare diseases.
“Although the diseases themselves are rare, it’s common to find people who have a rare disease,” Skakalski said.
About 200,000 people in the United States are living with rare diseases, half of them children.
That makes it important to raise awareness of those diseases among elementary school students. The spectrum includes cranial facial disorders, a head-and-face disfigurement spotlighted in the book and 2017 movie “Wonder.”
“That’s a great example of putting rare diseases in the limelight,” Skakalski said. “These things are all around us.”
Tonia and Scott are living with a bone-related disease that can cause hairline fractures and joint calcification. Another bone-related ailment, osteogenesis imperfecta, is potentially more severe and misunderstood because it often causes severe and frequent breaks.
“Parents of kids who have this disease, especially when it is undiagnosed, are often accused of child abuse,” Skakalski said.
But the weight of rare diseases often falls on children who have to live not only with their ailments, but sometimes unsympathetic classmates. Skakalski said her son had been the object of teasing from his peers, but her talks with his classes had helped alleviate that problem.
After Skakalski’s first talk to her son’s class at Sharpsville Elementary, she said her daughter, also a student at the school, had a request.
“She said, ‘It affects me, too. You should speak to my class,’” Skakalski said.
She and Scott have had to travel to Philadelphia for treatments.
“It does affect the whole family,” Skakalski said. “My daughter gets left behind on those trips.”
Next year, Skakalski said she, along with Sharon Regional Medical Center, want to do something special for Rare Disease Day, which is held on the last day of February. Every four years, Rare Disease Day falls on the calendar’s rarest day — Feb. 29.
“The ability to talk about Rare Disease Day is a way to put it in the spotlight in a good way,” she said.
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