After years of tests and health questions, the Naquin family of Humble, Texas finally has some answers as to why their sons Jonathan, 18, and Christopher, 16, had experienced sudden and profound hearing loss in their elementary school years. Both boys have been diagnosed with the extremely rare genetic condition called Alport Syndrome.
Alport Syndrome is characterized by kidney disease, eye abnormalities and hearing loss. Because the connective tissues in the eyes and the ears are very similar to those in the kidney, both of these often are profoundly affected by the condition. Doctors realized in retrospect that the boys’ hearing loss, which led to their wearing hearing aids by the time Jonathan was in third grade and Christopher was in first grade. The Naquin brothers’ health issues actually began while they were in the womb, when mother Carol was told her urine had a high degree of both blood and protein. Doctors could never explain why she had this sort of issue, and her boys, when they were born, began to demonstrate much the same symptoms without apparent cause.
It was not until last summer that medical professionals began to realize what could be going on with the boys. Jonathan was declining; at 6 feet, 2 inches tall, he weighed a scant 129 pounds. He was pale and drawn, and was immediately sent to Texas Children’s Hospital because his pediatrician suspected he had cancer. Jonathan went through another series of tests and it was discovered that the young man had Alport Syndrome. His brother was put through similar tests and was discovered to have the same rare genetic illness.
As the Texas teens received their diagnosis, Jonathan was never admitted to hospital. He was sent home to wait for an appointment with his doctor, and Carol, almost certainly the carrier of the disease, researched everything she could about the condition. What frightened her most was if left untreated, Alport Syndrome can lead to death.
Jonathan is currently struggling most with the disease. His kidneys are failing fast, and last week, the young man was placed on the transplant list at St. Luke’s Hospital in Houston. Friends and family alike have been tested as likely matches.
There are fewer than 60,000 cases of Alport Syndrome in the United States, and that was essentially why doctors took so long to piece together a diagnosis. For now, Christopher’s condition is being regulated with medication, as his condition is not as dire as Jonathan’s, but both boys have been told they will require several kidney transplants over their respective lifetimes.
Sharon Lagas of the Alport Syndrome Foundation says that the Naquin family’s experience is not unique. The disease is so rare it is referred to as an orphan disease, and as such, information was hard for the Naquins to come by. Carol struggled with anxiety and guilt following the boys’ diagnosis, particularly since she had demonstrated symptoms of the syndrome before the boys were even born.
As the Texas brothers learn to cope with Alport Syndrome, they are continuing to enjoy their usual activities and they are getting the help and support they need. For her part, their mother is painfully aware of the heartache that was caused by a lack of medical knowledge by the doctors.
By Christina St-Jean