Neurofibromatosis affects one in 3,000 people. It can appear as cafe-au-lait spots and bumps under the skin, or it can lead to complications that include blindness, scoliosis and disfigurement. The Times invited readers to submit questions to Ana Rodarte's surgeons and two other medical experts.
Answers were provided by physicians Michael Halls, a plastic and reconstructive surgeon who helped provided Ana's care through the nonprofit Doctors Offering Charitable Services; Tena Rosser, a pediatric neurologist, and Linda Randolph, a geneticist, both with Childrens Hospital Los Angeles.
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Question: I have Moebius syndrome and am well aware that people with facial disfigurements are typically not recognized as part of the disability community even though they often experience more discrimination than those with more familiar disabilities. Physical beauty is touted over and over as being the end-all for being accepted, and plastic surgery is viewed as a path toward social acceptance. For people with facial disfigurements then, it is inferred that they are "unacceptable" without surgery. Do you find yourselves wrestling with these issues? How can you help society understand that plastic surgery is not a prerequisite for social acceptance? [Sandy Goodwick]
Randolph: Yes, we wrestle with these issues. I see many patients with birth defects and never lose sight that there is a person there with feelings and intellect. Even if the patient (in my case, mostly children) is intellectually impaired, I know their feelings are real, and I know their family cares about them as much as if they were an honor student or captain of the tennis team. My small way of helping these people is to treat them, as much as possible, as any other individual and to put them in touch with others who are experiencing similar discomfort and pain. Organizations, such as FACES: The National Cranio-Facial Assn., can help patients feel less isolated, allow them to connect with others who are going through similar experiences. If the appearance of the patient is upsetting to him or her or causing a medical problem, I refer them to a craniofacial center where a team of physicians specializing in psychology, speech pathology, plastic surgery, dentistry and genetics can address their needs. You are right: One must understand what is within the person before thinking of any type of surgery.
Halls: This is a question that deserves a larger forum on a societal level, but I would be glad to share my personal feelings. Firstly, a disfigurement in no way implies a disability. In my own world and practice, I try to treat disabilities. I try to help patients achieve a higher level of function. This can be as simple as repairing an injured hand or repairing a pressure ulcer in a paraplegic, and it can be as complex as creating a new thumb from a toe after traumatic or congenital loss. The largest part of my practice is performing breast reconstructions in women after mastectomies for cancer. This is in no way a functional restoration, as the new breast cannot produce milk and has no appreciable sensation. Many women still consider themselves disabled by mastectomy and restored after reconstruction.
As far as facial "deformities," I always leave the question of possible surgical improvement up to the patient after supplying all of the options as well as the risks and benefits. If the patient decides to go ahead with surgery, I assume that it will help them improve their lives in some way. I personally try to accept all human appearances as part of the great bell curve that is our species.
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Question: I would like to thank the doctors and all the individuals who helped Ana Rodarte. I would like to know if these tumors will come back. Will she need further surgeries? Is this disorder incurable? [Guillermina Murillo]
Halls: The surgical treatments are not meant to cure the disease but rather to correct severe deformities. The tissues that have been operated on can continue to grow. However, smaller touch-up procedures can help to prevent further major deformities from overgrowth. The progression of growth is very hard to predict and can change over time. Tumor growth does tend to slow with age.
Rosser: Plexiform neurofibromas tend to grow very slowly with time. They are very diffuse tumors that wrap around critical structures such as muscles, nerves and blood vessels. This makes them very difficult to remove completely by surgery, and since they cannot be fully removed, there is always some tumor tissue left that slowly regrows with time. It is likely that additional surgery could be done for Ana in the future if her tumor grew again, but there is no definitive cure for this condition.
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Question: Is there any medication or procedure that, if done early in childhood, could have prevented the growth of the tumors? Doctors involved performed a miracle. [Alfonso Chavez]
