Cure Found by Manitoba Researchers

Willem Toews was seven years old before he could run. Or jump. Or ride a bike. But he’s certainly making up for lost time now! And the reason that Willem can do these simple, wonderful, childhood things is because researchers right here in Manitoba found a cure for the genetic bone disease that had kept him in pain for so long. And donors like you gave them the funding to find it.

Before he was born, Willem was diagnosed with hypophosphatasia (HPP), a genetic bone disease that prevents bones from mineralizing properly. As a baby, Willem didn’t grow very much, and he was very thin. By the time he was three years old, most of his teeth had fallen out. Willem spent the first nine years of his life with little energy. He couldn’t jump. He couldn’t run. His legs were so weak that he could barely walk up stairs. Every night he would cry because of the pain in his legs and hands. And yet, Willem actually has a less severe form of the disease than some others do.

Children who are born with infantile HPP, the deadliest form, usually have bones the width of a spaghetti noodle – too brittle even to touch. They usually die shortly after birth. But thanks to your support, the Children’s Hospital Foundation has been able to help find a cure for children like Willem. Willem was one of the first patients in Canada to receive treatment for HPP using the new trial-drug ENB-0040. Our own Children’s Hospital Research Institute of Manitoba was the first centre in the world to begin these clinical trials. The research being done on HPP right here at home will help children like Willem around the world. And it will give those babies born with infantile HPP a second chance at life.

The head of this research is Dr. Cheryl Rockman-Greenberg. She remembers when the drug was first tested successfully: “It became known in the medical community worldwide, that we were the only centre that had approval for infants. We soon got a call from Belfast to accept an infant with very severe infantile HPP.” Dr. Greenberg hopes that donors will continue to support her work: “This project is still in the clinical trial phase and needs further funding so that the treatment discovered here will be considered the standard of care worldwide for all children with hypophosphatasia”.

And as for Willem? Says his mother, Linda, “He feels like he’s breaking ground for other kids. Five years ago there were only three kids getting treatment, but there are now 25, and in the future every kid with HPP will be able to receive treatment.” But at the same time, the most important thing for Willem is to be a normal kid. Linda explains, “That’s huge for us, not feeling different. The treatment has allowed us that.”