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Connecticut Children’s Medical Center and UConn Health Are Fighting Little-Known Bone Disorders

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Dr. Emily Germain-Lee runs the Connecticut Children’s Center for Rare Bone Disorders at Connecticut Children’s Medical Center in Hartford.

For 15 years, as their son Simon aged from infancy to his teenage years, Kelley Amato and her husband Tim took Simon to scores of doctors, the most renowned medical centers in the country, and tried anything physicians said might work to ease Simon’s ever-present pain, increase his mobility and improve his quality of life. 

“Nothing worked, and in fact one of the in-patient treatments resulted in all four limbs fracturing on Simon,” Kelley Amato says. “We went to the top doctors, and either immediately or very soon after trying treatments on Simon, they’d tell us they didn’t know what exactly was wrong with him, and even worse, they said there was nothing they could do to help our son.”

Then, the Amatos, who live in New Jersey, heard about the promising research and clinical care being done by a team led by Dr. Emily Germain-Lee in Hartford.

“We wheeled Simon in and Dr. Germain-Lee saw how much pain he was in, and she immediately told us, ‘I’m going to find a way to help your son,’” Kelley Amato recalls. “For the first time, someone was telling us she could help. You have no idea what it was like for us to hear that.”

Simon Amato, now 16, was one of the first patients to be treated at Connecticut’s Center for Rare Bone Disorders, a unique program that provides patient care at Connecticut Children’s Medical Center and a research laboratory at UConn Health where Dr. Germain-Lee and her team investigate rare bone disorders.

“My overall goal in developing this new center is to find clinical interventions and novel therapeutics through a bedside-to-bench approach that could improve the quality of life and health for patients suffering from rare bone disorders,” Germain-Lee says.

Under the umbrella of the Center for Rare Bone Disorders are two very specialized centers: the Albright Center and the Osteogenesis Imperfecta Center. In Albright hereditary osteodystrophy, or AHO, a defect in a specific gene can lead to abnormalities in bone formation, hormonal regulation, metabolism, growth, tooth development, cognition and behavior, Germain-Lee says, adding that hers is the only center in the world dedicated to the treatment of patients with AHO. “I provide a hub from which all of their unique clinical issues can be addressed, and I also provide a comprehensive management and treatment plan,” she says. 

Germain-Lee and her team conducted two clinical trials in which AHO patients were treated with growth hormone — the first new drug treatment for AHO in more than 70 years.

“Although I am still in the process of finishing up the analysis of the final data from these trials, it is clear that growth hormone has many beneficial effects in these patients, which I believe has made a huge difference in their health and in the quality of their lives,” Germain-Lee says.

The other center focuses on osteogenesis imperfecta (OI), a form of brittle bone disease. Germain-Lee and the center’s co-director, Dr. Nancy Dunbar, believe they will make significant advances in patients with OI, as has been done in the AHO center. 

For the Amato family, the progress that Simon has made “has been incredible, more than we ever thought was possible after so many years of frustration and dead ends,” Kelley Amato says. “Simon still doesn’t have a firm diagnosis, but by coming here to Connecticut, our son went from not even being able to sit with us at the dinner table because of pain to walking a little again.”

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This article appeared in the June 2019 issue of Connecticut Magazine. You can subscribe here, or find the current issue on sale hereSign up for our newsletter here to get the latest and greatest content from Connecticut Magazine delivered right to your inbox. Got a question or comment? Email editor@connecticutmag.com, or contact us on Facebook @connecticutmagazine or Twitter @connecticutmag.