XLH patient says new drug is giving her hope for the future
At 55 years old, Linda Mozzone says she’s getting a second chance at life, all because of a new drug from Indiana University School of Medicine.
“It has been two-and-a-half years now, and it has changed my life,” said Mozzone, who lives with her husband and son outside of Chicago, Illinois. Mozzone was diagnosed with X-linked hypophosphatemia, or XLH, at age two. XLH is a phosphate-wasting disease that causes rickets and osteomalacia, or softening of the bones. While XLH is typically inherited, Mozzone’s case was spontaneous. There is a 50 percent chance her children would have the condition, but she says she’s thankful she did not pass it down to her son.
“I wasn’t going to have kids, because I didn’t want them to get it,” said Mozzone, “but my son didn’t get it, so it stops with me.”
Mozzone’s symptoms include short stature, bowed legs, dental abscesses and bone pain. For years, her treatments included taking medications every two hours of every day, but that still did not relieve all her pain. Then, at age 22, she fractured her femur for the first time, beginning decades of surgeries and procedures that provided little relief.
“It has been a horrific experience,” said Mozzone. “In the last ten years, I would say ages 42 to about 52, I saw a big decline in my health where things were really freezing up.”
Mozzone began to experience more severe pain and bone spurs in her back. She says it was difficult to continue her job as a financial analyst, because she had a hard time going out to meet clients.
“What happens with this disease is your bones hurt,” said Mozzone. “It’s an achy pain, like when you have the flu. You just want to lay down and say, ‘don’t touch me.’ I could barely even walk. I almost thought I was going to end up in a wheelchair.”
After 50 years, Mozzone finally found some relief. She joined an XLH support group online and heard about a clinical trial for a new drug called Burosumab taking place at IU School of Medicine. She began seeing Michael Econs, MD, and joined the trial, which included getting a shot once a month. The months she did not drive the almost fours to Indianapolis from her home in Chicago, a nurse would drive to her to give her the shot.
“It was a double-blind study where some of us got the drug and some did not,” said Mozzone. “I got the shot in January, and nothing changed, but when I got the shot in February, I knew I got the drug. I felt tremendously better.”
Now three years later, Mozzone says her life has drastically changed. Her bones are healing and the intense pain she felt for over 50 years is gone. Her dentist says her teeth are stronger than ever, and she’s now able to have knee replacements, because the bone is strong enough for the procedures.
“I know my bones are healing,” said Mozzone, “and they’re healing perfectly.”
Mozzone says she wants others with XLH to know about this new therapy, because she wants them to experience the same hope for the future that she has now.
“Get yourself on this drug. It’ll change your life. It changed my life. It changed my family’s life,” said Mozzone. “I’ve spent 55 years praying for this. It’s the most amazing thing, because I actually feel like for the second half of my life now, I can actually have one.”
Burosumab is being brought to market by Ultragenyx Pharmaceutical Inc. in collaboration with Kyowa Hakko Kirin Co., Ltd. and its European subsidiary, Kyowa Kirin International PLC, under the brand name Crysvita.
Learn more about musculoskeletal health research at IU School of Medicine.