“I never in a million years thought it would be me," says Katelyn Denbow. Her mother Gina says the 16-year-old was genuinely surprised when she was chosen queen of the junior prom at the Campobello Island Consolidated School. "She didn't have a clue."
However, Katelyn has been defying the odds since she was diagnosed with Alstrom syndrome, a rare genetic disorder that affects her vision, hearing, heart, liver, kidneys and other systems. Despite only being able to distinguish light from dark, Katelyn has run cross-country and played volleyball with her school teams and has a passion to succeed, rather than win or lose.
Katelyn's first visit to a doctor was at three months old, recalls her mother. "Her eyes were shaking, and we learned about three months later that she was very photophobic. Light bothers her.
"When she was four-and-a-half, we had tests done in Halifax, and they could see that it fit Alstrom syndrome," continues Gina, who began doing her own research on the disease that is so rare only about 900 people around the world have been identified with it.
Gina discovered that the major study on the disorder was being conducted only a few hundred miles away at Jackson Laboratory in Bar Harbor, and she e-mailed researcher Jan Marshall about Katelyn. Consequently, a blood sample from the four-year-old Campobello girl was sent to the lab, and her condition was confirmed.
Researchers at Jackson Lab had traced Alstrom syndrome back through 13 generations to an ancestral couple who had emigrated in the 1600s to what is now Nova Scotia. Either Gina or Katelyn's father Jeff passed on to her the single mutated gene that causes the rare condition.
The family attends the International Family Conference Medical Research Clinic and Scientific Symposium held every three years by the nonprofit organization Alstrom Syndrome International where they can talk to other people who are dealing with the disorder.
Katelyn can report that, by holding on to her coach Wathen Fletcher's arm, she has run cross-country with her school team. Girls' volleyball teams playing Campobello have allowed Katelyn to play with a shadow, and, serving backwards at the net, the young girl with severe sight and hearing impairment has scored points for her team.
"Everything surprises me about how far she's come," says Katelyn's proud mother. "She's a special child."