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Newborn Tyler sailed through his Apgar scores despite a few dysmorphic features, which included hypospadias, a slightly high, flat nose bridge, small eyes and clumpy, overlapping toes. Less than 24 hours later, however, after a choking episode turned him blue, the staff transferred the infant to the neonatal intensive care unit for observation.
And so began a journey for Tyler’s mother, Elizabeth, and father, Michel. Subsequent tests revealed a constellation of concerns, most importantly a chromosome deletion characterized as mosaic monosomy 13 and presenting with agenesis of the corpus callosum. The monosomy 13 also puts Tyler at risk for retinoblastoma.
Several days later, William V. Good, MD, a pediatric ophthalmologist and senior scientist at the Smith-Kettlewell Eye Research Institute in San Francisco, gave Tyler his first eye exam. “Dr. Good told us that our baby had colobomas,” said Elizabeth, a geologist. “Tyler’s right eye had a gap in the retina with a compromised optic nerve. The left eye was also affected but not as severely.”
Structure vs. Function
For his mom, the first few days of Tyler’s life were a blur, but she will always remember Dr. Good’s prophetic words. “Dr. Good first said that Tyler’s prognosis was extremely guarded; he didn’t think my son would have vision in his right eye and he thought the vision in the left eye would be very limited, maybe enough to make out shades of dark and light,” she recalled. “But he followed this up by saying: ‘Don’t ever let an ophthalmologist tell you that your baby won’t be able to see because function does not always follow structure.’”
Help on the way. Two weeks later, as Tyler’s parents continued to adjust to a baby with multiple disabilities, including hearing loss and severe feeding difficulties, they received a visit from an organization that changed their family’s life. Jeri Hart, a vision impairment specialist with Blind Babies Foundation (BBF), came to their home, took one look at little Tyler, exclaimed how adorable he was, scooped him into her arms, “and held him like a normal baby,” Elizabeth said.
Ms. Hart educated Elizabeth about her son’s visual impairment, explained what she could do to help stimulate his vision and provided the emotional support the family desperately needed. Today, Dr. Good has estimated that Tyler’s vision may be between 20/30 and 20/70. While he has gaps in his upper fields of vision, his lower field vision seems to be complete. He can crawl around the house and reach for toys right in front of him. “While he definitely is visually impaired, he has made enormous progress,” Elizabeth said. “Dr. Good is amazed and pleased by his level of functional vision.”
Sixty Years of Early Intervention
Much of Tyler’s remarkable progress can be attributed directly to the support of BBF, which this year is celebrating 60 years of service in the San Francisco Bay Area. Annually, vision impairment specialists with this Oakland-based organization help nearly 500 children under the age of 6 in more than a dozen central and northern California counties, at no cost to families. These vision impairment specialists work closely with family members to engage children in developmental activities that stimulate any available vision and encourage development of other faculties and skills. Home visits are provided on an average of twice each month.
Early intervention: critical. Since 85 percent of all early learning is visual, children who are visually impaired are at great risk for developmental delays, including potential trouble bonding with their parents. Immediate and intensive intervention is crucial when the child is young. The vision impairment specialists at BBF teach parents how to use simple toys that are visually stimulating, arrange the home so the child can move about freely, demonstrate how a variety of tactile experiences will help the child when the time comes to learn Braille, and discuss how particular uses of lighting can enhance vision.
“Blind Babies Foundation is a valuable resource for parents, as are similar organizations in most major cities,” noted Dr. Good, who serves as an emeritus board member of the organization. “By making a referral to Blind Babies Foundation, pediatric ophthalmologists, general ophthalmologists and pediatricians can provide a tremendous service for children who have an ophthalmic condition for which there is no treatment other than rehab. In addition, these types of organizations enrich the family’s ability to learn about and get access to other community resources, low vision aids and emotional support services—topics ophthalmologists do not necessarily know much about,” Dr. Good said.
Working Closely With Ophthalmologists
Julie Bernas-Pierce, BBF executive director, noted that one of the most important aspects of the organization is the interaction it fosters between worried families and local ophthalmologists. “We work with families even before the child receives a definitive diagnosis,” Ms. Bernas-Pierce said. “We can be there with them at the time they receive a diagnosis, and then direct them to the right types of physicians.”
A bridge to the best physician. Kiara Wilder, program director for the BBF, added, “It is important to steer families to the appropriate doctor quickly, especially since time is such a critical factor when dealing with visual impairment. We direct them immediately to a pediatric ophthalmologist, where they receive accurate information regarding their child’s vision and ocular condition.”
The vision impairment specialists also accompany families to physician appointments, which proves beneficial for all parties involved. This service has been available since the organization first began in 1949 with four children and one home counselor. “In 1949, as in today’s world, the families had so many questions about the child’s diagnosis,” Ms. Bernas-Pierce said. “The home counselor realized that by building a relationship with the pediatric and general ophthalmologists, she could support and enhance the advocacy for medical care for the families. So she began to identify the ophthalmologists and pediatric ophthalmologists in the area, and started to accompany families to these visits.”
Today, when the vision impairment specialist learns about a particular diagnosis, he or she can help families advocate for the child by clarifying the main discussion points with the physicians, taking notes, preparing the family for the visit and debriefing afterward. This helps families further understand the diagnosis. And the physician benefits as well, knowing that the family is going to be followed when they leave his or her office. The vision impairment specialist can ensure that children have access to the medications they need, are following a patching regimen or are wearing the glasses that were prescribed.
Shedding light on the situation. For Dr. Good, the vision impairment specialist plays a key role in describing in detail the child’s condition. “Parents often have a difficult time explaining their child’s visual challenges in an objective manner. The specialists have a lot of experience and can relay to me the child’s attributes, whether he sees better in one visual field or another, whether there is any possible refractive error. The specialists then return home to follow up with the family.”
Tyler’s mom noted that the emotional support she received from Jeri, the vision impairment specialist, proved to be an enormous help. “Almost four years after Tyler’s birth, it has become easy to talk about his disabilities,” she said. “But during the first year, it is hard to discuss your child’s condition without bursting into tears. So not only did Jeri take great notes and ask relevant questions, she also provided the emotional support I needed. She was able to bring up significant but subtle visual milestones I may not have even noticed.”
BBF visual impairment specialists accompany parents not only to eye appointments but to key doctors’ appointments—which is crucial when the child has several concerns, like Tyler, who needs neurologists, audiologists and pediatricians.
BBF is also involved in physician training. The organization has participated in grand rounds at the University of California, San Francisco Medical Center, and has enhanced training for pediatric residents throughout the different children’s hospitals in the Bay Area. “We also invite pediatric ophthalmologists and neurologists to speak to parents, teachers and doctors during our annual symposium,’” said Ms. Bernas-Pierce. “Fact sheets from these collaborations have been distributed to professionals around the world.”
Gail Calvello, another program director for BBF, said the organization is “really designed as a parent education program. There is nothing magical we can do with the diagnosis. However, we can offer suggestions to promote the child’s access to his/her environment. We support the parent-child relationship and promote the use of residual vision and the development of compensatory skills. Working with families in their homes is intimate and intense work,” Ms. Calvello said. “We are usually involved in the families’ lives for about three years, but sometimes longer.”
She added that at a recent anniversary celebration, BBF staff met adults who were served when they were babies. “So the relationships that are built are really powerful.”