And it’s all because of Dane.
Eight years ago, Dulaney and here husband, Cern Basher, welcomed their first child, a son, Dane. It soon became apparent that not all was well. Dane exhibited a weak suck reflex and had trouble getting—and keeping—food down. He was also jaundiced.
“I thought, it’s my first child, I’m not sure what’s going on,” Dulaney recalls. “He seems OK, just some difficulties.”
But at six months, Dane still couldn’t hold his head up. Dulaney’s pediatrician diagnosed hydrocephalus, and Dane began visiting a neurosurgeon. Dulaney was hopeful that hydrocephalus would explain Dane’s developmental delays, but neurosurgeon soon quashed that idea. So began a series of assessments that would go on for almost four years.
For most of that time, the family lived with a default diagnosis of hypotonic cerebral palsy—it was the closest fit doctors could find for his symptoms, which included low muscle tone, inability to walk, seizures and lack of speech. But the diagnosis never really fit, and when Dulaney attended parental support groups, it was apparent the other children with this diagnosis weren’t exhibiting the same symptoms as Dane.
Then, just before Dane turned 5, a chromosome test unlocked the mystery: an extremely rare condition known as 22q13 deletion syndrome—also called Phelan-McDermid syndrome—caused by the loss or absence of genes at the tip of the 22nd chromosome. There are only about 300 documented cases of the disorder internationally, although the genetic testing necessary for detection has been available only in the past six or seven years, suggesting there may be a large number of people living with an incorrect diagnosis.
Dulaney and her husband took action. Dane’s diagnosis came in the spring, and as luck would have it, the fledgling 22q13 Support Group Foundation’s biannual conference was scheduled for July. “We got the news just in time for the conference,” Dulaney says. “We were there with like 60 families with all these kids. It was perfect timing to get updated medical information, to meet Dr. Katy Phelan, for whom the disease is named. It finally fit somewhere. It was great.”
It wasn’t long before someone noticed Dulaney’s title on an e-mail and asked her to help set up a research support committee for the foundation. One of the committee’s key tasks is to raise awareness to promote research. Dulaney is also helping ferret out assessment tools that might be most effective to measure the cognitive and behavioral impact of various treatments.
“A few of us are trying to pursue experimental treatment for the children,” she says. “We’re one of the families. It’s intranasal insulin. It’s been used with Alzheimer’s patients in trials. It seems to improve their memories. There are five families in Germany who are doing it. But no family in the U.S. has made a breakthrough yet because of review boards and this and that. We’ve got a team at Cincinnati’s Children’s Hospital who are on board with it. They’re going to the Institutional Review Board for the protection of human subjects. The IRB says you have to get the Food and Drug Administration’s approval for an off-label use of the drug, so we’re on hold until we get approval.”
The family is involved with fundraising as well. Basher recently raised more than $34,300 climbing Tanzania’s Mount Kilimanjaro. And Dulaney found help here at Xavier as well in the form of willing babysitters—often occupational therapy, psychology or special education students—and colleagues like Morrie Mullins, an organizational and industrial psychologist whose graduate class designed a user-friendly survey for parents of children with 22q13.
As for Dane, he loves TV, and he loves to laugh. He gets outpatient occupational physical therapy; he gets equestrian therapy at Milestones in Northern Kentucky; he gets aquatic therapy; and through school he gets speech therapy during the school year as well a special education teacher. He still doesn’t talk or walk on his own, but recently, there was a good sign.
“Last week in the pool, Dane took five steps independently,” Dulaney says, a smile crossing her face. “Everything he’s done in the pool, he’s eventually carried over to land. That makes me hopeful that three or four years it’ll carry over to land. But even in three or four years, you can bet I’m going to be right there with him ready to catch him. He’s still going to fatigue very easily, and he’s still going to be clumsy—more clumsy that if he had walked earlier. I think it’ll always be very tentative. But I’m hopeful … and scared too.”