171 Ashley Ave.
Charleston, SC 29425
843-792-1414
|
 |
May 2009
A Tough Kid Battles a Tough Case of Neurofibromatosis
You would never guess that Conor McManus, age three, with a beaming smile and huge head of hair, has been through hard times. "He's tough," says his mom, Miranda McManus.
"And he loves going to the doctors'. Loves it."
Conor has neurofibromatosis, a genetic disorder that causes tumors to grow along nerves, affecting the development of bones and skin. Diagnosed in childhood, neurofibromatosis, or NF, is an autosomal dominant genetic disorder occurring in one of every 3,500 births. "Fifty percent of the time, it's inherited from a parent who carries the gene, and the other 50 percent it's the result of spontaneous mutation," explains Miranda. "Conor's is a result of spontaneous mutation."
There are three distinct types of the disorder: NF1, which is also known as von Recklinghausen NF; NF2, which is less common and characterized by auditory tumors ; and Schwannomatosis, an even rarer form just recently recognized.
Conor was diagnosed with NFI at four months old due to his astute pediatrician, Dr. Meghan Geils. "I brought him in for a check-up after I noticed one eye was bigger than the other," recalls his mom. Conor's café au lait marks were a tip-off. "Dr. Geils remembered hearing about NF in medical school, and suggested we get an MRI."
Conor had two of the six diagnostic criteria for NFI, which include six or more café au lait spots; two or more neurofibromas; freckling in the armpits or groin; optic glioma; sphenoid dysplasia; and a first-degree relative with the NF gene.
Much of the time, the symptoms of NF are mild. Pediatric neurologist Dr. Bernard Maria advised Miranda and Rod, Conor's dad, to keep an eye on Conor and schedule MRIs every three to four months. Meanwhile, Conor had developed leg length discrepancy (one leg is longer than the other) and was also seeing ophthalmologist Dr. Richard Saunders in the Storm Eye Institute for congenital glaucoma.
Miranda, a professor of biology and chemistry, delved into the scientific aspect of the disease. Kids with NF1 are prone to brain tumors, bone deformity, cancer and learning disabilities. In short, she says, she learned that just about every condition is more likely to occur in a child with NF. "I learned that it's a difficult disorder to manage; usually kids that have NF have a slew of different experts who are treating them."
A few months after Conor's diagnosis, his parents felt a stringy growth above his eye. "They say it feels like a bag of worms, and it does," says Miranda.
The growths were benign, the risk of removing them and disturbing nerve function too great.
But during Conor's next MRI, Dr. Maria found the tumor had become sizeable, wrapping around the branches in the thin-walled veins in the cavernous sinus section of his brain and filling his orbit so quickly that it was causing his eye to protrude.
"Facial manifestations of NF to the extent of Conor's are pretty rare - specialists see it once every couple of years," recalls Miranda. "The surgeons were very nervous because it was displacing his carotid artery, and they were also worried about it affecting his vision."
Dr. Gerald Tuite performed a craniotomy on the nine-month-old to "de-bulk" the tumor.
"They knew they couldn't get it all, but would just make it smaller," explains Miranda.
Conor recovered amazingly well, but within months his parents noticed more tumor growth. His eye was getting bigger and lower. His glaucoma was affected and required constant monitoring, including visits to a specialist at Duke University Medical Center.
When Dr. Tuite saw photos of the drastic change in Conor's eye, he scheduled another craniotomy less than five months after the first. This time, he enlisted the help of cranio-facial plastic surgeon Dr. Richard Kline.
"The tumor growth had caused his facial bone structure to change dangerously," reports Conor's mom. "Dr. Kline reconstructed his face."
Again, Conor, now just over a year old, rebounded with his signature toughness. "He really started doing better developmentally after the second surgery," says Miranda. Up to this time, the boy had had significant developmental delays in movement and speech. "Stuff that's a big deal for toddlers, like eating off a spoon or drinking from a bottle or cup. He slowly began doing these kinds of things after the second surgery."
His right eye, though, continued to worry his physicians. Dr. Saunders and Conor's doctors at Duke all felt he might lose the eye, but wrestled over what to do because it still had some function.
The McManuses traveled to Philadelphia, to one of a handful of pediatric oculoplastic surgeons in the country, who performed three surgeries on the small patient, including removing his right eye. Every few months, Conor and his parents return to Philadelphia for a check-up and MRI. Conor also continues to see his physicians at MUSC.
"You wouldn't think he'd love going to the doctors' offices after all this, but he just loves it, loves the attention," says his mom. Conor and his family know there'll be more surgeries as the NF growths continue. Currently, the superficial tumors have grown but the internal cavernous sinus ones have not.
"He might undergo chemotherapy, but it doesn't work great on NF," says Miranda, noting that there are several clinical trials currently underway to investigate the efficacy of chemo on NF.
The youngest of five, Conor has recently started Montessori school and loves baseball and the beach. "Conor is tough, and he keeps popping back. You can't phase him," his mom says proudly.
|
|
Print Version