Future Reflections Special Issue: Blind Children with Additional Disabilities
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by Deborah Kendrick
From the Editor: Deborah Kendrick is a widely published journalist who lives in Cincinnati. Her weekly column on disabilities has run in a variety of newspapers across the country. Currently she serves as secretary of the NFB of Ohio and coordinator of Ohio's mentoring program.
The email gave me a jolt that left me temporarily immobilized. "Our friend is terribly ill," it said. Through a haze of shock I registered the news that here was yet another one--not a close friend, but certainly a man I knew and admired. The dreaded "other shoe" had dropped.
We are members of a kind of family, this man and I. Many members don't know I exist. Yet when I read about them in a news story or a comment on a blog, I feel our connection. I felt it when Ben Underwood died early in 2009; Ben was the blind teen who dazzled national viewers with his amazing ability to ride his bike, shoot hoops, and skateboard using echolocation. I felt the connection when Jeff Healey, an extraordinary Canadian guitarist, died in 2008. Then there are closer encounters, such as the kind, humble, intelligent man referenced in that email. There are people I have met at conferences, and there is my roommate from guide dog training.
The thread that connects us is a rare childhood cancer called retinoblastoma (RB) that can lead to blindness. If detected early, it has an extremely high survival rate. Yet one of every four of us adult survivors will eventually experience other malignancies, usually fatal ones, and the odds increase as we grow older. My "other shoe" came in the form of a rare sarcoma wrapped around the femur, the large bone in my left thigh. It was radiated and removed. Seven years later, I try to outweigh the ordinary irritations of work and family with the gratitude I should feel every day.
About three hundred children in the United States are diagnosed with retinoblastoma each year. They belong to every race and come from every faith and socioeconomic group. Their survival rate after age five is exceedingly promising. (The 90 percent survival rate for African American children is slightly lower than the survival rate of 93 percent recorded for white children.)
Although retinoblastoma is a low-incidence condition, it has played an extremely significant role in cancer research. In mathematical analyses of the occurrences of the tumors, researchers came upon the role of tumor suppression. For this reason, the gene that can carry the retinoblastoma condition has been called the RB gene. Most people have the RB gene in its healthy form. In a child who develops the cancer, however, the gene's tumor suppression capability is missing. In the retinoblastoma patient cells divide and keep multiplying until a mass, or tumor, results. This same defective RB gene carries markers for other malignancies, partially explaining why so many of us retinoblastoma survivors develop other cancers down the road.
Although the survival rate for retinoblastoma is high, early detection is crucial for the saving of life or eyesight. A few years ago, two young mothers made national headlines when one saw the online photo of the other's baby and recognized the peculiar reflection from the eye that is sometimes a symptom of the retinal tumor. My grandfather once told me that he saw the glow reflected off my right eye when I was nine months old. He insisted that my mother pay an immediate visit to the pediatrician. The upshot was removal of that eye, "full of cancer," as the ophthalmologist expressed it. The family remained vigilant until the disease visited my left eye four years later. (Leukocoria, as the whiteness of the retina is called, does not necessarily mean that a child has cancer. It can indicate other eye conditions as well.)
Because retinoblastoma is a childhood cancer, rarely detected after age six and usually occurring before a child's first birthday, baby eye exams are essential. A California-based nonprofit, Retinoblastoma International (RI), is dedicated to promoting infant eye exams. It raises funds to make exams available to families at all income levels. Three actors with personal experience of retinoblastoma have lent their talents to public service announcements on behalf of RI's efforts. Hunter Tylo's daughter was diagnosed at three months and Matthew Ashford's daughter at four months. Peter Falk lost one eye to retinoblastoma at age three.
When Peter Falk was born in 1927, the only treatment for retinoblastoma was removal of the affected eye. Fortunately, Falk is going strong eighty years later! By the time I was diagnosed in the 1950s, the power of radiation to eradicate tumors had been discovered. Radiation technology was much cruder than it is today, and time would reveal significant drawbacks. Often, as in my own case, the excessive radiation failed and the eye was ultimately removed anyway. Researchers came to recognize a higher incidence of brain or facial cancers near the site of the radiation. Among children whose radiation treatments were administered before age one, the occurrence of additional cancers was particularly high. Other repercussions sometimes occurred as well. My excessive radiation at age five has been linked to a hearing loss that began in my adolescence and is now ranked as moderate to severe.
Today treatment varies according to the severity or nature of the RB tumor. Far more sophisticated radiation therapy is sometimes used, as are chemotherapy, cryotherapy (freezing), or laser treatments. Sometimes the only way to save a life is still to sacrifice one or both eyes.
Retinoblastoma can be inherited from a parent who also had the disease. It may also result from a sporadic mutation, one that occurs for the first time in a child with no family history of RB. RB can be unilateral, affecting only one eye; or bilateral, occurring in both eyes. In my case retinoblastoma was sporadic and bilateral. It came out of nowhere and affected both of my eyes.
There is a 50 percent likelihood, or one out of two, that the child of a parent with bilateral retinoblastoma will inherit the cancer. In 1980 30 percent of all retinoblastoma cases were bilateral. Today the bilateral form accounts for more than 40 percent of all RB cases. Dr. James Augsberger, a recognized expert in the treatment of children with retinoblastoma and chair of the Department of Ophthalmology at the University of Cincinnati's College of Medicine, explains that three decades ago few retinoblastoma survivors were having children. "Today," he says, "they're saying, 'Well, it turned out all right for me.'" While that explanation doesn't entirely cover the sequence of events that led to my giving birth to three now-grown children, the sentiment somewhat reflects my attitude.
As I was growing up, I was told almost nothing about my medical history. I was seven months pregnant with my first child when my husband and I learned that my blindness was due to a highly hereditary disease. If the disease had only resulted in blindness, I doubt that we would have been exceedingly troubled. My life, after all, was filled with joy, success, and adventure. But retinoblastoma was more than blindness. It was cancer, cancer with the possibility of metastasis to the brain, spine, or other parts of the body. Fortunately, we found a brilliant ophthalmologist who armed us with piles of information and a positive attitude. Treatment in the 1970s, he assured us, was far more sophisticated than treatment in the 1950s. Since early detection was key, we were ahead of many parents in that we knew to look for the danger. Each of our children was routinely examined from birth to age six--sometimes under anesthesia and sometimes not. At last came the day of blessed relief when the ophthalmologist examined my six-year-old youngest child and said he never wanted to see her again!
If you are reading this article you may be the parent of a child diagnosed with retinoblastoma. You want to know what quality of life your child can expect in the future. If your child has been diagnosed with this rare tumor, he or she is in good company. RB survivors are generally intelligent, creative, well-oriented, social beings, and they tend to be high achievers. Among them are world champion skiers, clinical psychologists, college professors, award-winning writers, executive directors in the for-profit and nonprofit sectors, assistive technology developers, lawyers, and public relations gurus. Peter Falk of the Columbo series and The Princess Bride is perhaps the oldest well-known RB survivor, with numerous film credits and a memoir to his name. Jeff Healey, the Canadian musician, received accolades from peers and fans alike in multiple musical genres including rock, blues, and jazz. He appeared with Patrick Swayze in the film Roadhouse in the 1980s. While the film may not be the most memorable of Hollywood's productions, the obvious success of this RB survivor is undeniable.
As yet no research has explored the high achievement levels attributed to survivors of RB. Because retinoblastoma occurs in early childhood, children who lose their sight as a result are at an ideal age to become proficient in Braille and other blindness techniques. Good skills may help explain why so many RB survivors have pursued higher education and professional careers. Few of us spend much time looking back.
Regarding my decision to become a parent, I recognize that my three children and I were astonishingly lucky. All three are RB free. Occasionally the cancer skips a generation, and my kids are informed and ready. They want to have children someday, they all tell me, and they know enough to be on the lookout for the warning signs of RB. To avoid the cancer altogether, they might consider looking for the gene proactively, since that particular genetic testing is now an option. They also know that blindness is no detriment to living a full and wonderful life.
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