Pyruvate kinase deficiency (PKD) is an inherited blood disorder that causes premature death of red blood cells.
Historically, routine blood transfusions have been the main treatment for patients with PKD.
Doctors are calling the first drug ever approved for PKD patients a game changer.
Bill Pitchforth is in his kitchen at home. He is a trained pastry chef. However, Bill had medical problems. He was born without one eye.
“I’ve seen more smiles on the girls’ faces with patches than when they had prosthetic legs,” he joked.
And while treating him for a melanoma on his cheek 15 years ago, doctors discovered another serious, unrelated health problem.
“They were testing my blood to see what was going on, but they didn’t know what was wrong,” Bill said.
Bill’s red blood cell count was dangerously low. Doctors determined he had his PKD. Doctors initially told Bill that he would have to have blood transfusions for the rest of his life.
“Iron overload in these patients from breaking down red blood cells in the bloodstream can actually lead to liver failure, liver cancer, heart failure and sudden cardiac death,” said a hematologist at Mass General Cancer. One Dr. Hanny Al-Samkari said: center.
But doctors recruited Bill for a clinical trial of a pill called Mitapivat, now known as Pilkend.
“Patients receiving Mitapivat have seen dramatic improvements in their blood counts and normalization of their blood counts,” said Al-Samkari.
Bill’s energy slowly began to return. The drug got his FDA approval, so doctors say he will continue to take it long-term.
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