Neurofibromatosis diagnosis gives mom answer to son's troubles
Posted May 29, 2011 8:29 p.m. EDT
Cafe-au-lait spots, trouble focusing, tummy troubles, migraines. Heather Wray knew there was something going on with her oldest child, Ethan, but she didn't realize it was all connected.
It started with the labor and delivery. Wray was induced at 36 weeks because Ethan was growing so fast. Once he arrived, Ethan spent the next seven days in the neonatal intensive care unit, hooked up to oxygen and monitors.
A month later, he started having trouble taking her breast milk. Wray changed her diet, drank more water and sought advice from doctors, but nothing seemed to stop Ethan's projectile vomiting. Wray had been a nanny before, so she was used to seeing newborns spit up, but had never seen anything like this. Doctors eventually diagnosed Ethan with reflux and recommended the end of breastfeeding. The only thing that would stay in his system was formula with cereal mixed in, she said.
Life went on. Wray and her husband had two more children, girls.
But then more questions popped up. Ethan had been developing normally, but he had always had a big head. A doctor noticed a cafe-au-lait spot on his belly which Ethan had had since birth and Wray had never thought much about.
And Wray began noticing little things as he attended preschool and started kindergarten. He struggled when he tried to sound out a word. He had a hard time sitting still at dinner. He easily lost focus. Wray thought maybe he was bored or was having trouble adjusting to "big-kid" school.
But around this same time, Ethan started getting more of those cafe-au-lait spots. When he turned five, there was what Wray called a "massive explosion."
At the doctor's office, they stopped counting at about 30, she said, and scheduled an appointment with a pediatric dermatologist. He finally was able to put all those puzzle pieces together.
Ethan had neurofibromatosis, a genetic disorder that affects the skin and nerves and causes tumors to grow spontaneously on the nerves. A genetic counselor told the family that it could take a decade off of his life. The diagnosis explained everything - the cafe-au- lait spots, troubles at school, tummy problems, migraines, large head size and other issues Ethan had been dealing with over the years.
"We took that and learned that we could either see all the bad associated with NF and all the struggles that might be a part of Ethan’s life or we could just let it be," Wray wrote. "We chose to just let it be. Our faith and belief in God, tells us that Ethan was given to us for a reason."
After the diagnosis, Wray's first instinct was to get more information. She searched online for more information and came across the Children's Tumor Foundation, a medical non-profit that is working to find a cure for neurofibromatosis. NF1, the form of the disorder that Ethan has, occurs in one in every 3,000 children born.
Wray was impressed with the group. Instead of just sending her information, somebody actually called her to offer information and support. A North Carolina chapter of the foundation was eventually formed. The group has held two successful fundraising walks, launched a Facebook page and is planning more events to gather N.C. families who are dealing with the disorder for events or just informal playgroups.
"Our hope is that we can connect with families across the state of North Carolina to let them know they're not by themselves," Wray told me.
Best of all, Ethan, now 8, is a happy grade schooler and great big brother, who just got his training wheels off his bike and is taking the disorder in stride, Wray tells me.
To learn more about the Children's Tumor Foundation and the group's North Carolina chapter, click here. Check out its Facebook page. Wray also mentioned that both UNC Healthcare and Duke Children's Hospital and Health Center have neurofibromatosis clinics.
And watch the video to see my interview with Wray.