NO DIANOSIS
Brian Chadaris is tired. Tired of being hospitalized. Tired of repeated surgeries. Tired of being stared at by strangers. Tired of being in pain.
Brian has grappled with an undiagnosed skin disease for more than a decade. The disease has confounded doctors, and treatment has been limited to unsuccessful drug regimens, experimental skin grafts and surgical tissue removal called debridement. More than 30 surgeries have left Brian scarred and disfigured, and the end is nowhere in sight.
The pain has been a constant since Brian was 5 years old, part of him for so long that he cannot remember life without it. “I can’t describe it, “ said Brian, a Rio Linda 16-year-old who is also mostly deaf. He is an accomplished lip reader and speaks with a slight slur. “I just know it hurts and I have to deal with it.”
The disease has become the focal point of his family’s life; days are structured around medications and appointments. Money is scarce, as the drugs Brian takes are not covered by Medi-Cal, and his mother loses job after job when his hospitalizations require her absence.
When Brian was 5, the first lesion appeared. It started as a small bump, similar to a pimple, behind his ear. Soon, it hardened and raised, growing to a size of a nickel. Eventually it ruptured oozing pus and blood. Over the years, the sore has shrunk and lain dormant, but it always comes back. And one by one, other infected lesions started sprouting on his head, neck and face. At age 10, a doctor diagnosed Brian’s malady as sever acne, telling his worried parents that it would pass. But the lesions became larger, more frequent and prone to infection as Brian moved through adolescence.
The sores spread to his chest, armpits and groin. Soon, not only was any sort of movement painful, but the friction exacerbated the lesions as well. Brian’s playful childhood, filled with bike rides and basketball games, became a thing of the past.
Without a firm diagnosis, doctors were reluctant to treat Brian. Instead, nurses would send his mother home armed with surgical sponges, a scalpel, and a suture pack, so she could clean and scrape the pustules when the pain and pressure became too much for Brian to bear.
The agonizing debridements often left both of them in tears. Brian’s parents searched in vain for a doctor to help ease their load.
He was seen by pediatric infectious disease specialists, pediatric dermatologists and other experts but they had no answers.
In late July, Brian and his mother traveled 3,000 miles to the National Institutes of Health in Bethesda Maryland, in search of a treatment or cure. For 10 days, Brian was examined, poked and prodded by doctor after doctor. He didn’t come home with all that he wished for. But he did return with a long-awaited answer – and a renewed sense of hope.
Ongoing research had just uncovered a link between skin abnormalities, deafness and mutations in a gene called Connexin 26. While Brian was deaf, doctors hadn’t really connected his deafness and his skin problems.
During the visit, doctors performed biopsies on Brian and analyzed his DNA which did indeed uncover a mutation in the Connexin 26 gene.Subsequently, another researcher found a link between Connexin 26 mutations and KID syndrome, which stands for keratitis (inflammation of the cornea), ichthyosis (scaliness of the skin) and deafness. His skin condition, with its recurrent infections, wasn’t an obvious case of ichythyosis. And doctors hadn’t detected keratitis. But the genetic mutation was certain, and so was its link to KID syndrome. Maybe, doctors theorized, Brian had a variation of the condition.
After a battery of tests, the ophthalmologist confirmed that Brian did have a faint case of keratitis.
“ It’s KID syndrome,” said Brian to no one in particular. His mother’s face dropped.
Only 70 cases of KID syndrome have been reported worldwide. The disease is so rare that the ophthalmologist had to log on the Internet for guidance. “It’s the first case I have seen,” he said.
Later that day, Brian talked about the flood of new information he was being dealt.
“ I know a lot more that I did, and that’s good,” he said. “I understand a lot more now about why this happened. I feel better. I have more hope.”