HUTCHINSON-GILFORD PROGERIA SYNDROME
MERCY CHILDREN’S HOSPITAL, Toledo, Ohio
Carly was 10 months old when genetic testing funded by CMN Hospitals donations diagnosed her with progeria, an extremely rare syndrome that causes dysmorphic features, accelerated aging, small stature and a short life expectancy. With only 18 kids in the U.S. with this genetic disorder, there aren’t standard treatments for the many complications that progeria presents.
Shortly after diagnosis Carly’s mom, Heather, felt she had a decision to make. She could settle for the little that was known about progeria and hope for the best, or she could find the best care possible for her daughter. When her pediatrician called, Heather asked how invested she would be in Carly’s care. “We’re in,” her pediatrician replied, “whatever we don’t know, we’ll find out.” Through CMN Hospitals, she connected Carly to a leader in every specialty field they needed, and their fight began. “We don’t have a cure yet,” Heather says, “There’s no protocol or treatment, so we depend on CMN Hospitals for continued research and breakthroughs.” CMN Hospitals makes it possible for Carly’s cardiologist, endocrinologist, neurologist and pediatrician to communicate directly about her case, and also collaborate with global experts on progeria.
Though Heather is grateful for the specialized equipment available to help Carly, she says the thing she’s most grateful for is not a piece of machinery. “There’s a willingness to learn and to explore that defines this team as the best we could hope for.”