When Jackson was just an infant, Kathy noticed several spots beginning to appear on his skin. While not overly concerned, she asked her pediatrician about them.
“The doctor called them Café au Lait spots. He said they are not problematic on their own, but should be watched because the spots are associated with a potentially serious genetic disorder – neurofibromatosis,” Kathy says.
As Jackson grew, so did the spots – in both size and number. At age 1, he was referred to the specialists at the Neurofibromatosis Clinic at Cincinnati Children’s. During the initial consultation, Kathy says the specialists were 99 percent certain that Jackson had neurofibromatosis type one (NF1), a fact later confirmed by genetic testing.
NF1, also called von Recklinghausen’s disease, affects one out of every 3,000 people. Symptoms and severity vary greatly among those with NF1. Some don’t even realize they have the disorder, while others suffer with serious conditions such as scoliosis, speech and learning difficulties and seizures. Some patients develop tumors that press on organs, causing complications and even death. In rare cases, the tumors can be cancerous.
There is currently no cure for NF1, but continued research at the newly established Center for Neurofibromatosis Research at Cincinnati Children’s may someday mean new treatments to help children born with the disease lead healthier lives.
“When you get the diagnosis, you’re hit pretty hard,” says Kathy.
Just as Jackson’s family was trying to cope with his initial diagnosis, they were hit again with more frightening news. An MRI of Jackson’s head and eye orbits showed a tumor on his optic nerve. The tumor was not causing any symptoms, but if it grew, it could endanger his sight and require chemotherapy. Jackson also had NF1-related issues, for which he needed speech and physical therapy.
As difficult as the situation has been, Kathy appreciates the expert treatment and support her family has received by the caring staff of the Neurofibromatosis Clinic, part of the Division of Human Genetics at Cincinnati Children’s.
“Cincinnati Children’s is one of the top children’s hospitals in the country and Jackson has gotten top-notch, personalized care and attention at the clinic,” Kathy says. “When I hear about kids that have had a wrong or missed diagnosis, tumors left untreated too long, baseline MRIs that were never ordered… it saddens me. And it makes me grateful for what we have been given.”
Enjoying Every Day, Counting Every Blessing
Now 4 years old, Jackson is a happy, sweet and affectionate little boy. He likes to draw pictures, sing songs and play with trains. He loves basketball and sports of any kind.
“He has this way of making everyone around him feel special,” says Kathy. “He is smart and funny – quite a clown, really!”
The tumor on Jackson’s optic nerve eventually dissolved on its own. He is doing well and keeping up developmentally, but will need regular checkups and MRIs to watch for tumors and other symptoms.
Through it all, Kathy says she is glad to have Cincinnati Children’s so close to home. “If you have a child with NF1, this is the place to be. I’m truly grateful – some people have to travel hundreds or thousands of miles to have access to a place like this. It is really, truly a blessing to have Cincinnati Children’s in your backyard.”
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