What is Neurofibromatosis Type 1? Neurofibromatosis type 1 (NF1) is a genetic condition that results in the formation of neurofibromas, a type of nerve tumor that forms on or under the skin. Attached to nerves throughout the body, these tumors are usually benign, but can become cancerous and therefore require lifelong monitoring. A not-uncommon condition, NF1 occurs at a rate of about one in every 2,600 people. While symptoms are usually mild to moderate, the condition can also be severe, such as what Melissa and Michelle experience. Symptoms of NF1 are often noticeable at birth, and usually appear during childhood. In addition to the neurofibromas, symptoms of NF1 include: “Café au lait” spots—flat, light brown spots on the skin. More than six spots suggests the presence of NF1 Freckling in the armpits or groin Tiny bumps on the iris Bone deformities Optic tumors Learning disabilities Larger than average head size Short stature NF1 is an inherited condition and is therefore present at birth. “NF1 is autosomal dominant, which means it’s inherited in 50 percent of people with the gene,” explains Dr. Barnett. “If one of your parents has it, there’s a 50/50 chance you will have it too.” In the twins’ case, their mother also has NF1, but never knew it. “My mom was finally diagnosed with NF after I was,” Michelle says. “Hers was milder than mine and my sister’s, so she didn’t know she had it. She had balance and hearing issues, which we now attribute to the NF.” As for the next generation of the twins’ family, Michelle says, “My son is 22 and he has been ruled out for NF. My daughter is 26 and is a carrier of the gene, which means she doesn’t have the tumors, but she can still pass it on if she has kids. I do have a granddaughter who is being monitored for NF, but she’s only 5 and it’s too soon to tell. It’s usually puberty when tumors start to develop, because of hormones, so we won’t know for a while.” For Melissa, it’s a watch-and-wait situation with the youngest of her three sons. “One of my three boys—the 13-year-old—has the NF gene and the café au lait spots,” she says. “You have to have so many spots to be diagnosed with it, so his pediatrician monitored the size and width of his spots as he was growing up. Now, we just hope he doesn’t get the tumors like we have. I don’t want him to suffer.”
F E A T U R E
“You can have a near-normal life expectancy with NF1,” she explains. “Treatment involves a lot of surveillance imaging, and the prognosis diers depending on the patient. Some patients’ tumors do not grow very much; others have a malignant transformation into cancer. With Melissa and Michelle, because there are so many tumors, they have a lot of nerve pain. ey get MRIs once a year on the brain, neck, cervical spine, lumbar spine, lungs, abdomen, pelvis, and legs. I will also alternate with a PET scan, which uses radioactive glucose to see if any of the tumors have an abnormal uptake of sugar, which would mean they were becoming malignant. ey always let me know if
anything is hurting, so I can monitor it.” e pain, Dr. Barnett acknowledges, is constant.
“at’s what makes them particularly resilient,” she says. “It takes a lot of psychological strength, and despite their constant pain, Melissa and Michelle both live very full lives.” Prabhakar Tripuraneni, MD, radiation oncologist, Scripps MD Anderson Cancer Center and Scripps Clinic, agrees. “Melissa and Michelle are always impeccably dressed with a smile, in spite of all the pain.” He adds, “Radiation therapy is very useful and dramatically improves the quality of life inmany noncancerous conditions, such as neurobroma, pituitary adenoma, meningioma, Dupuytren’s contracture, keloids, heterotopic ossication, and others that most people and doctors are not aware of.”
Above: Scripps Clinic neurosurgeon Faith Barnett, MD, has helped the twins manage NF1 and the chronic pain it causes for 22 years.
Right: A scan of Melissa's sciatic nerve clustered with neurofibromas.
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