The morning after their son was born nine years ago, Michele Moylan and David Wheaton learned that little Riley had albinism.
It wasn’t apparent to them right away. In fact, they had no idea Riley had albinism until their pediatrician came to the hospital to do a standard baby check the next day and noticed that Riley had white eyelashes and no pigment in his eyes.
After the initial shock, Moylan and Wheaton, of St. Paul, searched the Web, trying to learn more about this genetic condition. Later that day, word of Riley’s birth reached Richard King, M.D., Ph.D., a University of Minnesota geneticist and international expert in albinism, while he was driving home from work. King turned around and found his way to Riley’s hospital room, where he shared helpful, honest, and encouraging information with the new parents.
King and C. Gail Summers, M.D., professor of ophthalmology, direct the renowned International Albinism Center at the University. Since the center opened 15 years ago, it has made significant contributions to the field of albinism through both research and patient care. King and Summers see patients from around the world—from as far away as Singapore and as close as the Twin Cities. Riley and his younger sister, Sara, who was born 18 months after Riley and also has albinism, have benefited from their close proximity to the center.
“It is hard to overstate what an advantage it has been for our family to have these experts just 15 minutes away,” Moylan says.
The impact of albinism
When King visited Riley and his parents in the hospital, “he gave us more information about albinism in a half-hour than most parents get in the first 10 years of their child’s life,” says Wheaton. “He told us Riley was going to have a happy, healthy life. He told us he has patients who are doctors, lawyers, engineers, and accountants. He was very matter-of-fact but clearly empathetic.”
Later, Summers confirmed that Riley had no melanin pigment in his eyes. She told Wheaton and Moylan that their son’s vision would slowly improve, but it would likely never be completely normal, and he might not be able to get a driver’s license in the future. But with adaptation, Summers told them, Riley should be able to perform well in educational, social, and vocational settings.
Wheaton and Moylan agree but say that working with Summers throughout the years has made all the difference in their children’s lives. “Her kind and gentle demeanor—overlaid with her technical competence and no-nonsense approach— has helped us through the difficult exams,” Moylan says. “Her patience and willingness to explain things to our kids and to us was especially important in the early years when we were feeling raw and confused.”
Sunscreen, hats, and clothing can protect the skin, but currently nothing can be done to correct the area of the retina—called the fovea—that does not develop properly in utero and in infancy, likely because melanin pigment is deficient, Summers says. The iris does not contain enough pigment to screen out stray light coming into the eye. The optic nerve connections between the retina and the brain are also altered.
King says ophthalmologists play the main roles in identifying and managing the condition. “Albinism is defined by changes in the eye,” he explains. “In our research we are looking at the finer points of the condition and identifying the genes for the many types of albinism. Many ophthalmologists and geneticists still have a fairly hard time making a diagnosis in patients who have some pigment in their skin and hair.”
Giving back to research
Several years ago, Wheaton and Moylan received a gift of $25,000 from Wheaton’s parents. They decided to give that money to the University’s International Albinism Center for research in 2000.
“We wanted our gift to have as broad a reach as possible,” says Wheaton, “and we wanted to let the researchers and the people on the ground direct the funding, to allow them the flexibility to respond to opportunities that might arise.”
Summers is currently using part of the unrestricted gift to study driving performance in people with albinism—a significant issue for many with the condition.
“Having the data in hand will give me so much more to go on when patients and their families ask me about driving,” explains Summers, who is well known for her clinical research on albinism. “Driving is so essential in our society, and this study will finally provide us with the information we need.”
In collaboration with the University’s Department of Mechanical Engineering, which is providing a driving simulator, researchers ask individuals with albinism who are licensed to drive to go through scenarios with a variety of weather conditions, distractions, and other variables. A control group—people without albinism— performs the same tasks.
The gift from the Moylan and Wheaton family is being used for a pilot study, which Summers hopes will garner enough information to secure funding for a subsequent larger study. “Without the family’s generosity, we wouldn’t be able to do this project,” she says.
King no longer conducts laboratory research, but he continues to foster albinism research at the University and at institutions throughout the world.
“Our ultimate goal is to understand the role of melanin pigment and the retina and visual pathways,” he explains, “and to develop a way in which that could eventually be altered to improve the visual acuity of people with albinism, so that all people with albinism could drive.”
Adapting to everyday life
For Riley, age 9, and Sara, age 8, having reduced vision means that they sit in the front of the classroom to see the board during math class. They may not always see the ball during gym class or recess, and sometimes they end up getting hit in the face by a ball as a result.
“The playground, where kids move around quickly, can present special challenges,” says Moylan. “A couple of years ago, Sara did a presentation about albinism for her kindergarten class, and she told the kids that as long as they use their voices to tell her where they are when they’re playing tag, she won’t lose track of them when they move around. So pretty soon she had friends standing right next to her, shouting in her ear!”
Sara adds that she likes theater, too. “And we’re both big readers,” she says.
“In fact,” says Riley, “there was actually a rumor going around in my classroom last year that I had read the dictionary, which was not true. I would have died of boredom.”
When asked what it’s like to live with albinism, Riley says, “Well, I’ve never had it any other way. At my school there are actually two other people with albinism—my sister and another boy. Although one thing that can be hard is that people don’t know about albinism.
“What’s different for us?” he asks. “Large print books, mostly. Just bigger words.”