Rentas Family: One in a Million
The Rentas family is one in a million. Josiah, Cariel, and Xavier Rentas all have an extremely rare inherited blood disorder that leaves them nearly blind and vulnerable to bruising and life-threatening bleeding, even during normal activities. Hermansky Pudlak Syndrome (HPS) is a genetic disease so rare that many physicians, even those who specialize in blood-related disorders, have never heard of it. Worldwide, HPS affects about 3,000 people of Puerto Rican descent.
Josiah was diagnosed with ocular albinism when he was three months old by retired Scott & White ophthalmologist Louis Adams, MD. It was Dr. Adams who referred the Rentases to Richard Lewis, MD, an ophthalmologist at Baylor College of Medicine in Houston. Dr. Lewis had just returned from a medical conference on HPS, and immediately recognized the visible signs of the disease in the little boy. Mr. Rentas and his wife, Lyzzette, finally had a diagnosis that could explain their son’s persistent bruising, and bleeding that had resulted in an emergency room visit and a 10-day hospital stay at Scott & White.
"We were devastated at first when we learned about HPS, especially when we heard Josiah wouldn’t be able to play baseball," says Mr. Rentas, a painter in the Construction Department at Scott & White. He remembers a frightening experience when Josiah and his sister, Cariel, bumped heads during some playful roughhousing: Josiah’s face swelled up from internal bleeding, and she required an immediate blood transfusion at Scott & White. Another time, Xavier, the youngest Rentas child, accidentally scratched his ear. He, too, had to have a blood transfusion due to excessive bleeding.
The right pediatric specialist in the right place
The Rentas children are monitored by Javier Kane, MD, who just joined Children’s Hospital Scott & White from St. Jude Children’s Research Hospital in Memphis, Tennessee. When necessary, they see Donald Mahoney, Jr., MD, director of hematology at the Texas Children's Hospital (TCH), as well. The new partnership between the Children’s Hospital Scott & White and TCH means that Josiah, Cariel, and Xavier will see the right pediatric specialist in the right place. They have access to anyone they might need to help them manage their disease and its side effects, which include irritable bowel syndrome and chronic stomach pain. Until a year ago, the Rentases were driving to Houston frequently from their home in Nolanville, Texas, for their visits to Dr. Mahoney. Now they’re breathing a sigh of relief that the Children’s Hospital Scott & White has the kind of expertise they need to care for the three children, with only occasional trips to Houston needed.
Josiah, Cariel, and Xavier go to school and participate in activities just like other kids. But their health situation requires moment-by-moment vigilance, and they must take extra care to avoid anything that might result in dangerous internal bleeding. For now, there is no cure for HPS. But for the Rentas family, life moves on. And that means gymnastics for Cariel, Josiah’s drum playing, and Xavier’s consuming interest in learning as much as humanly possible about sports cars. "Life is 10 percent what you’re dealt, and 90 percent how you respond," says their father.
Mr. and Mrs. Rentas know that cystic fibrosis is another risk to their children, because HPS also damages lung tissue. "We try to live a normal life," he says. "We hope our kids live a long life, and are so grateful to all the generous donors who made this new hospital possible. They have no idea how much they mean to us. My wife and I will never underestimate the value of their generosity."