When Hendrix Mascara, 2, was born four-weeks early, his parents knew immediately something was more concerning than his premature arrival. “He spent a lot of time after birth in the neonatal intensive care unit (NICU) for respiratory distress and other issues,” says Kailey, Hendrix’s mom. “A neonatologist suggested genetic testing for Hendrix.”
Results came back revealing that Hendrix was missing a piece of his X chromosome – something indicative to a rare genetic disorder called Hunter Syndrome (MPS II). “We had never heard of Hunter Syndrome before doctors were talking to us about the possibility of Hendrix having it,” says Kailey.
Doctors confirmed Hendrix had Hunter Syndrome, a rare, inherited genetic disorder where the body does not produce a key enzyme that breaks down cellular waste in the body. As a result, the cellular waste builds up in the body ultimately affecting the organs, joints and brain. The disease primarily affects boys.
“Usually boys with Hunter Syndrome aren’t diagnosed until they start showing symptoms which is in the toddler years,” says Kailey. “Since Hendrix was diagnosed so early, he began receiving treatment at just three months old. The earlier you start treatment the earlier you help stop progression of the disorder. There is no cure.”
Hendrix goes weekly to his local hospital Nationwide Children’s in Columbus, Ohio for enzyme replacement therapy. For the last year and a half, he and his family have been traveling to Chicago once a month for a clinical trial led by Barbara Burton, MD, Genetics, at Lurie Children’s. Research like Dr. Burton’s is giving Kailey and the Hunter Syndrome community hope for a better quality of life for their children and to one day lead to a cure.
“We are excited to possibly be a part of something bigger for the Hunter Syndrome community. Treatment for Hunter Syndrome has only been around for the last decade or so. There is so much unknown which is hard for a mother,” says Kailey. “We are racing against time. If a different type of treatment or cure doesn’t come along, we know what the outcome will be and it’s heartbreaking. You have to keep hope.”
The Division of Genetics is deeply committed to research and is currently involved in a number of clinical research projects related to the natural history, treatment and long-term outcomes of genetic diseases. Learn more about Dr. Burton and Dr. Joel Charrow’s research.