Teenagers Jonathon and Christopher Naquin of Humble, Texas have never been able to pinpoint the cause of their mysterious symptoms.
Since childhood, Jonathon, 18, and Christopher, 16, experienced significant levels of protein and blood in their urine and even suffered hearing loss while in elementary school.
But now, after years of tests and baffling doctors, the two boys and their family finally received the answer they were looking for: Alport Syndrome. Never heard of it? You’re not alone.
Alport Syndrome is a rare genetic disorder that affects the connective tissue of the kidneys. Hearing loss and changes to eye structure is also common as they share a similar type of connective tissue with the kidneys.
“Early hearing loss, blood in the urine and history of kidney failure are all red flags,” said Clifford Kashtan M.D., a pediatric nephrologist at the U of M and executive director of the Alport Syndrome and Outcomes Registry in Minneapolis. Kashtan spoke with ABC News about the family’s situation.
Fewer than 60,000 Americans have Alport Syndrome. And since it’s initial symptoms intertwine with many other conditions, it is often overlooked.
Unfortunately, Kashtan said, there is no cure, but the syndrome is treatable. And recently, researchers and pharmaceutical companies have began giving the condition more attention.
“It’s beginning to be viewed as a condition in which various approaches to preventing kidney failure can be tested. So while it’s still relatively underfunded, we’re hoping that will soon change,” said Kashtan.
Since their diagnosis this past summer, the boys are receiving the treatment they need. They will likely need multiple kidney transplants over their lifetime.
Interested in learning more about Alport Syndrome or how you can help raise awareness? Click here.
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