For more than eight years, Tonya-Jo Robinson has been looking for answers. Last week at Samaritan Albany General Hospital, she finally got an important one.
ALBANY — For more than eight years, Tonya-Jo Robinson has been looking for answers. Last week at Samaritan Albany General Hospital, she finally got an important one.
Robinson and her husband, Steve, learned last Monday why two of their four children are confined to wheelchairs: a gene called KCTD7.
Everybody has the gene, but in the children it has mutated.
"I feel like we've taken a right turn off a foggy road," Tonya-Jo Robinson said. "Now there's a little bit of light."
The gene has disabled the Robinsons' 10-year-old daughter Cassie-Jo and 3-year-old son Owen-Michael. Cassie-Jo has been in a wheelchair since she was 5 and is now completely dependent on a care provider. She can't talk and has to be tube fed. Owen-Michael has suffered similar symptoms and about a year ago lost his mobility.
The Albany family had traveled the country from California to Texas to Illinois hoping to get a diagnosis. This year they went to the Undiagnosed Diseases Clinic of the National Institutes of Health in Bethesda, Md., where the children were examined and blood was taken from all the family members.
Last Monday, the Robinsons met at the hospital with Dr. Tom Markello from the NIH Clinic, who had come to Albany with the results.
The doctor told them the KCTD7 gene is the apparent cause.
The government-funded program, a joint effort of NIH geneticists, nurse practitioners and lab scientists, used new techniques in genome sequencing to make the discovery. It is one of the first instances of a genetic disorder being solved by analyzing one family's genes.
"It's not the miracle diagnosis I had hoped for that would include a cure," Robinson said. "We're not headed there, at least not yet. But I am relieved that I can stop looking for a cause."
Dr. Markello told the Robinsons the faulty gene is not present in their other children, Kaylie-Jo, 5, and Evan-Wyatt, 2.
"I know science takes time but the possibility for study has opened up," Robinson said. "Maybe they can learn to understand the gene and what it affects."
Markello discussed the discovery and the steps for study that will follow.
"Without families like yours we wouldn't be able to know this. This is a new, previously uncharacterized gene, one that has not been studied," he said. "We can finally start to learn."
Dr. Eddie Frothingham of the Mid-Valley Children's Clinic recommended NIH to the family in June.
Robinson said that all through the ordeal, the family has had incredible support from the community, particularly Mighty Oaks Therapy Center, Camp Attitude and Mid-Valley Children's Clinic.
"I think we are finally at a transition point as a family," she said. "We had lived for an answer and now we can start living for life."