SOMERS, Conn. (WTNH) – Eighteen-month-old Adelyn Rinaldi was born with an ultra rare disease that was not detected until she let out her first cry in the operating room.
Bright eyed, but somewhat wary of the television camera, Adelyn snuggles next to mom.
When her youngest of three was in her womb, Jennie Rinaldi had little reason to worry.
“I delivered her naturally and when she was born, you could tell right away, she couldn’t breathe,” said Rinaldi.
Adelyn couldn’t breathe because she was born without a rib cage.
A closer look showed more bone missing.
Jennie points to a scan of Adelyn’s hand – “Just this — is bone.” Then to another, “She has a femur but has no hips.” And lastly, “Her head is just smushed in the back.”
Adelyn was born with the most severe form of hypophosphatasia, HPP.
Doctors gave her little chance of surviving. There was an option. A drug trial in Pittsburgh.
“My husband asked the neonatologist, what’s our other choice? And he said, nothing,” said Rinaldi.
The company behind the clinical study, Alexion Pharmaceuticals, based in New Haven, CT.
Dr. Martin Mackay heads up Research and Development.
“We only look to come up with treatments,” He says, “that are truly transformative, make a big difference in the life of a patient.”
The breakthrough drug, the now FDA approved Strensiq, is doing just that for Adelyn.
Dr. Mackay explains, “This disease, it was known the patients lacked an enzyme, there was a genetic mutation.”
Researchers came up with a way to replace that enzyme then directing it to affected areas of the body.
“Because of the lack of this enzyme, there’s a build up of another chemical and it’s this chemical that prevents bone from being formed properly,” he says.
In three months, the bones Adelyn didn’t have are clearly visible.
From a rib cage, to her hands, her hips, and head, “The only soft spot is where she should have a soft spot,” says Jennie.
“Cognitively- she is right on track with any other 18-month-old. Physically she is behind, she is unable to walk yet but we have hope. There is no reason she won’t get there,” said Rinaldi.
Adleyn will be on the drug her entire life.
The family’s insurance does cover it.
Alexion has a compassionate use program for those who may need financial assistance.
The company has also launched a global campaign to raise more awareness of rare childhood diseases and potential treatments.