By Dustin Turner
Michele D’Amico and her husband, Michael, a lieutenant for the Richmond County Sheriff’s Office, live in “John’s world”—and they are happy to do so.
John is their 15-year-old son who lives with Krabbe (crab-A) disease. They’ve been told that at 15, he is one of the oldest living children in the world with the condition. The illness claims the lives of most children by 2 years, though some live to be 4 to 8.
“John is wheelchair-bound. He has a feeding tube and a suction tube and is completely dependent on us,” Michele says. “But he has the biggest, brightest eyes you’ve ever seen and the best smile, and that just makes everything okay, ya know?”
If he had been diagnosed at birth, his mother says, he could have had a stem-cell transplant to improve his chances. Instead, he didn’t start showing symptoms until he was about 9 months old. Symptoms included a “G.I. Joe” type of crawling and not moving in his bed at night. But he was still eating and laughing, so he was not diagnosed with Krabbe. At about 1 year, though, you could really see the symptoms developing, Michele says, and at 15 months he was diagnosed. By then, it was too late for a transplant.
As one would expect, John’s life is not easy. In addition to his physical state of being, he goes through several therapies every week. He sees a home-bound teacher a few times a week, but “he loves to finger-paint and be read to,” Michele says. John gets treatment from a speech therapist (“He’ll never talk,” Michele says, “but the therapist works his tongue, jaw and muscles in that area.”). For his body and muscles, he gets swim therapy, physical therapy and occupational therapy, which work his hands and shoulders.
All the therapy doesn’t upset John in the least, his mother says. “He absolutely loves the interaction with people. He is just a happy kid.”
John stays active, as well. He plays adaptive baseball at the Family Y and has been in the Tri My Best Triathalon for the past three years. His sister, Jessica, 22, is studying to be a nurse. Michele says that likely comes from seeing what her brother has gone through all his life.
According to the Mayo Clinic, Krabbe’s is an inherited disorder that destroys the protective coating of nerve cells in the brain and throughout the nervous system.
There’s no cure, and treatment focuses on supportive care. Stem-cell transplants have shown some success in infants who are treated before the onset of symptoms and in some older children and adults. The disease affects about 1 in 10,000 people in the United States and is also known as globoid cell leukodystrophy.
Common symptoms include:
• Feeding difficulties
• Unexplained crying
• Extreme irritability
• Fever with no sign of infection
• Declines in alertness
• Delays in typical developmental milestones
• Muscle spasms
• Loss of head control
• Frequent vomiting
As the disease progresses, signs and symptoms become more severe. They can include:
• Loss of developmental abilities
• Progressive loss of hearing and sight
• Rigid, constricted muscles
• Stiff, fixed posture
• Progressive loss of ability to swallow and breathe
Older children and adults:
When Krabbe develops later in childhood or during adulthood, signs and symptoms can vary widely. They might include:
• Progressive loss of vision
• Difficulty walking (ataxia)
• Decline in thinking skills
• Loss of manual dexterity
• Muscles weakness
One organization that has been a big help to the D’Amicos is Hunter’s Hope Foundation (www.huntershope.org). The organization was founded by NFL Hall of Fame quarterback Jim Kelly, whose son, Hunter, died from Krabbe’s at 8 years old.
Hunter’s Hope helps fund research into the cause, prevention, treatment and clinical care for children suffering from Krabbe and works closely with the University of Buffalo (New York) School of Medicine to do that. It provides support and information to families dealing with the disease.
Hunter’s Hope also holds an annual Family & Medical Symposium that brings together scientists, doctors, families, strategic partners, staff, board members and volunteers for a week of learning and support. Hunter’s Hope pays for expenses, including food, lodging, conference fees and transportation. Qualified families can receive financial assistance with travel expenses.
The D’Amicos have been to such symposiums in New York. “We are surrounded by love and support. They (Hunter’s Hope) are there for everybody,” Michele says. “All the kids are treated normally there. If you hear a suction tube start up, people don’t turn and stare. We all know what it is. It’s just normal, and everything seems okay.”
Indeed, Krabbe’s makes John fully dependent on his family and therapists, but that doesn’t get the D’Amicos down. “John is a wonderful, happy child. I could just go on and on about how great he his. He smiles, and it just lights up the room,” Michele says. “And if this is the only way I get to meet him in this life, then I am truly blessed. The disease took everything away from him, but he doesn’t give up, so we don’t give up.”
Dustin Turner is an Aiken writer and editor. He and his wife, Jamie, have one daughter.
This article appears in the April 2016 issue of Augusta Family Magazine.
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