Feb 25, 2014 -- Carol Naquin of Humble, Texas, says her 18-year-old son Jonathan is a quiet kid who loves computers and video games. Her 16-year-old son Christopher, the outgoing one, loves dirt bikes, hunting, jet skiing and snowboarding.
As different as the two brothers are, Naquin said they share a rare, life-threatening disorder known as Alport Syndrome.
Naquin said their disease was discovered this past summer after years of missed chances. The first chance came even before the two brothers were born, Naquin recalled.
"When I was 2 the doctors found protein and blood in my urine. They did many tests over the years but they were never able to explain it," Naquin noted.
Fast forward to when Jonathan entered third grade and Christopher entered first grade. Both experienced profound, unexplained hearing loss in both ears. The doctors were puzzled but simply fitted the boys with hearing aids and sent them on their way.
Today at 1 p.m. ET, Dr. Richard Besser, ABC News' chief health and medical correspondent, will lead a tweet chat about identification, treatment and cure of rare disorders through programs of education, advocacy, research, and service. We'll be joined by the National Organization of Rare Diseases and the Alport Syndrome Foundation as well as hundreds of organizations that represent individual orphan diseases.
Through their childhood both boys consistently tested positive for protein and blood in their urine, just like their mother. They underwent a battery of examinations, but each time nothing turned up.
Finally last summer, Naquin started to worry about Jonathan's appearance. He was exceptionally pale and at six-feet two-inches tall, he weighed just 129 pounds. When she brought her concerns to his pediatrician, he suspected cancer and immediately sent him to nearby Texas Children's Hospital.
"That's what finally set things in motion," Naquin said.
Naquin said the hospital refused to admit Jonathan at the time. Instead they sent the family home with a printout explaining Alport Syndrome. Up to that point, the disease had never been mentioned, she said.
Over the next few days, as they waited to touch base with Jonathan's doctor, Naquin said they learned everything they could about Alport Syndrome.
They discovered that Alport is a rare genetic disorder that attacks the connective tissue of the kidneys. The first symptoms are blood and high protein levels in the urine. Because the ears and eyes share a similar type of connective tissue with the kidneys, the condition often causes hearing loss and changes to eye structure.
Based on family history, Naquin was almost certainly the carrier of the disease. Left untreated, Alport leads to kidney failure and death.
"When they tell you your child has a rare disease you know nothing about and then they send you to the Internet, I can't describe the raw emotion," Naquin said. "I felt fear, guilt, anxiety. It was devastating."
Ultimately tests confirmed that both boys had Alport Syndrome. Doctors determined that Jonathan's kidneys were failing fast and that he needed a kidney transplant as soon as possible. Last week, he was placed on the organ transplant list at St. Luke's Medical Center in Houston, Naquin said. Dozens of family members and friends have also been tested to see if they are a match.
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.
We'd love to hear from you, too. Find out more about how you can join in on the conversation here.