As for Christopher, he was immediately put on medication to prevent further damage to his kidneys. But he too will need dialysis or a kidney transplant before the age of 30, Naquin said. In fact both boys are likely to need multiple kidney transplants in their lifetime.
A Rare Disease Without a Cure
Sharon Lagas, president of the Alport Syndrome Foundation, said that the Naquin family's experience is typical. Because Alport is such a rare disease and the initial symptoms are common to many other conditions, it's often missed.
"Fewer than 60,000 Americans have Alport Syndrome," Lagas said. "It's considered an orphan disease so it gets very little recognition, awareness or funding."
Dr. Clifford Kashtan, a pediatric nephrologist and executive director of the Alport Syndrome Treatment and Outcomes Registry at the University of Minnesota in Minneapolis, said that the diagnosis is typically discovered through personal and family history.
"Early hearing loss, blood in the urine and history of kidney failure are all red flags," he pointed out.
Usually a pediatrician or family physician makes the diagnosis and refers the patient to a kidney specialist. Occasionally a sharp audiologist catches it because Alport-related hearing loss occurs at a hearing register above conversational speech, a rare pattern for hearing loss.
When Alport is suspected, Kashtan said it's confirmed by a kidney or skin biopsy or a blood test. Unfortunately, testing is rarely covered by insurance and the Alport Syndrome Foundation reports it can cost upwards of $10,000.
Alport Syndrome has no cure. However, Kashtan said there is hope because the disease is treatable. And lately it's attracted the attention of researchers and pharmaceutical companies.
"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," he said.
Now that her boys have a diagnosis, Naquin said she's hopeful for the future but feels let down by the medical community.
"If more doctors were aware of this disease, my kids' kidneys could have been protected much sooner," she said. "A little more knowledge on their part would have meant a lot less heartache on mine."
Getting sick is bad enough. But people with orphan diseases like Alport Syndrome are faced with more challenges than usual. They struggle to get a diagnosis and even when they are diagnosed, it's often tough to get access to proper treatment.
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