PHILADELPHIA (CBS) – A new medical breakthrough has roots in Philadelphia. The Food and Drug Administration recently approved the first gene therapies to treat patients with sickle cell disease, an inherited blood disorder that strikes mainly people of color.
“You feel like somebody is taking a sledgehammer to your bones and hitting it over and over again,” said Daniels Tornyenu, who has sickle cell disease. His daughter, Marie-Chantal Tornyenu, has the illness as well.
“In my chest, it’s like this hollow burning almost, and then I can’t breathe on top of it,” Marie-Chantal Tornyenu said.
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Pain from sickle cell can happen anywhere blood circulates. Because red blood cells, which are normally round, bend into inflexible sickle shapes, they pile up in blood vessels and prevent the normal delivery of oxygen. Complications can include bone deterioration, strokes and organ failure.
“I don’t think there is a word for it besides wishing to die,” Daniels Tornyenu said.
But the family found hope for Marie-Chantal Tornyenu at Children’s Hospital of Philadelphia in the form of an experimental therapy that her dad didn’t qualify for.
“I would say in a general way, the impact on patients has been spectacular,” said Dr. Stephan Grupp, CHOP’s Section Chief of the Cellular Therapy and Transplant Section.
The FDA has just approved the gene therapy that was tested at CHOP.
Before this, the only treatment for sickle cell disease was a bone marrow transplant.
With the new therapy, the patient first has chemotherapy to wipe out the abnormal cells. Then, CRISPR technology edits portions of the patient’s DNA to repair their red blood cells.
“Gene editing is an amazing technique used to open our DNA, making a relatively simple modification and then giving the patient back their cells,” Dr. Alexis Thompson, the Chief of the Division of Hematology at CHOP, said.
Marie-Chantal Tornyenu, who’s now 22, started the therapy at CHOP two years ago.
“The risks were scaring me a little bit, but as we heard more and more about it, I was more and more excited about it,” she said.
“This is a rebirth,” her dad said. “This gene therapy is a godsend.”
Marie-Chantal Tornyenu, who’s a student at Cornell University and hopes to go to law school, said she’s pain-free now and her one-time fear of sickle cell disease being fatal has been replaced with hope.
“Now I can see myself living to my 80s, 90s,” she said. “I can imagine the life I’ll have for myself. I’m incredibly excited for it.”
