Local residents diagnosed with Alport Syndrome
- Written by Susan McFarland
Two Humble brothers, Jonathan Naquin, 18 and Christopher Naquin, 16 were recently diagnosed with a rare genetic disease Alport Syndrome. The disease is estimated to impact 1 in 5,000 people and result in kidney failure. The diagnosis was overdue. Throughout their childhood, both boys tested positive for protein and blood in their urine. "At the time, I thought it was normal, because I had the same thing happening my whole life (as a carrier)," said Carol Naquin, the boys mother. Additional clues were present early on when both boys were diagnosed with hearing loss during routine screening at Maplebrook Elementary School. They were both fitted with hearing aids and moved on. Fast-forward 10 years, and Carol Naquin became concerned about Jonathan, who was unusually pale and weighed 129 pounds and stood just over six feet tall. After a week of testing at Texas Childrens Hospital, both boys were diagnosed with Alport Syndrome. Unexplained hearing loss, and protein and blood in urine are all symptoms of the disease. After the diagnosis, Jonathan was determined to have less than 20 percent kidney function, and is now on the list for a kidney transplant. His father was recently found to be a donor match. "They will generally let the kidney function go down to 10 percent before a transplant," said Carol Naquin. She is hoping time and advances in technology will find a cure for the boys. "Being optimistic, in their "lifetime, hopefully they will each not" have more than two kidney transplants." The boys diagnosis led to 15 minutes of fame for the Naquin family in late February. After the diagnosis, Carol Naquin contacted the national Alport Syndrome registry. Following registration, the family was selected to be featured, as part of National Rare Disease Day, on the national website for ABC news and also on Carol Naquin said the experience was incredible, "this thing went viral internationally within a few hours. We got a ton of calls, good and bad. One lady called and suggested we try green coffee bean enemas. There were some negative comments on Yahoo, like people with genetic abnormalities shouldnt have kids. I started to respond to them, but then just thought what am I doing. We also had several people come to us, and say 'where do we need to get tested, we will donate a kidney to your sons, which was amazing.'" Overall, the boys are feeling pretty good. They both continue to wear hearing aids and are not overwhelmed by the diagnosis. "They are teenagers and like other teenagers, they think they are invincible. Jonathan has been anemic for a while, so I dont think he realizes how good he could feel. The anemia comes from his kidney not producing enough red blood cells. So he gets a shot every two weeks of Aranesp, which jump-starts his body to create red blood cells. Two shots retail for $1,500. We went from last summer thinking both kids were fine, to Jonathan taking a full regimen of nine pills per day," said Carol Naquin. She admits the last several months have been difficult but says "having strong faith and a very strong family that stands behind you and that is there for you no matter what, thats what gets you through, thats where your strength comes from." According to the Alport Syndrome Foundation, the disease affects the type IV collagen family of proteins, which are present in all tissues including the kidney, inner ear and eye. The disease causes damage to the kidneys by the progressive formation of scar tissue in the kidney structure. The kidneys filter proteins out of the blood and the molecules damage the kidney filtering system because of the abnormal collagen makeup, eventually leading to kidney failure. In general, the disease affects more boys than girls because 80 percent of the time, the disease is passed on by a mutation on the X chromosome. For girls, who have two X chromosomes, the "normal" chromosome buffers the effect of the mutated chromosome. Photo: Brothers Jonathan (left) and Christopher Naquin with their father Christopher Sr. and their mother Carol Naquin.