Medical center to end keiki genetics program
By Catherine E. Toth
Advertiser Staff Writer
The Queen's Medical Center clinic that cares for children with rare metabolic and genetic disorders — the only clinic of its kind in Hawai'i — will close at the end of the month, leaving hundreds of families wondering where to get the specialized help they need.
Queen's spokeswoman Lynn Kenton said its Comprehensive Genetics Center has operated at a loss since it opened in 1999 and that costs ultimately forced the closure of its metabolic and genetic clinic that treats children.
But the closure also coincides with the resignation of the clinic's only two practicing genetics nurses who specialize in prenatal and pediatric care. The genetics center has been operating without a medical director for two years, and their departure leaves the clinic without the specialized staff it needs to operate.
Queen's joins hospitals across the nation that are closing their genetics programs because of costs, said Dr. Neal Winn, vice president at Kapi'olani Medical Center for Women & Children.
"This problem is not a local one," Winn said.
The Queen's Genetics Center will remain open, conducting genetic testing and providing support services for adults with cancer and neurological genetic disorders.
But since the Genetics Center's child treatment clinic will no longer be operating, parents of children with rare genetic and metabolic disorders will no longer have a central, specialized clinic to go to with questions and concerns. Children will now have to be treated by their primary-care physicians or pediatricians, most of whom are not trained in treating these disorders.
Queen's is still looking to hire a full-time medical director for the center to continue the services provided by the clinic, though finding someone who specializes in prenatal, pediatric and adult genetics has been difficult, Kenton said.
Along with Tripler Army Medical Center and Kapi'olani Medical Center for Women & Children, Queen's is also working with the state Department of Health and the University of Hawai'i's John A. Burns School of Medicine to provide medical resources for these families locally.
Their plan has been to bring in genetics specialists from the Mainland once a month and have others available via teleconferencing.
"An effort has been made to try and fill this gap," Kenton said. "We are aware of (the need), and we have been trying to figure out a solution."
But parents feel uneasy about not having someone in Hawai'i they can call when their child is sick or goes into metabolic crisis.
"Having a team of specialists in California doesn't help me sleep at night," said Anna Lohmann, a 27-year-old Wahiawa mother whose youngest daughter, Samantha, has the metabolic disorder phenylketonuria, or PKU. "It's hard to believe there's no one here we could call."
Born on May 16, 2002, Samantha was diagnosed with PKU, a metabolic disorder found in one of 53,522 babies born in Hawai'i. A missing enzyme prevents her body from breaking down one of the amino acids in protein foods. Without treatment she could become severely mentally retarded.
For the rest of her life, Samantha can't eat anything containing protein. Every ounce of special formula has to be accurately measured, every reaction noted. She gets weekly blood tests.
"I have confidence that if she were to get sick, her pediatrician could treat her," said Lohmann, who had to quit her job to take care of Samantha during the day. "But if she went into metabolic crisis, I don't know what we would do."
Only a handful of newborns — even fewer adults — are diagnosed with rare metabolic disorders every year. But with better treatment and more comprehensive screening, these children are living longer. That means that treatment continues longer and costs mount.
"In the past kids with genetic conditions didn't survive," Winn said. "Now they are, with proper care, and becoming adults ... It's become more and more apparent that we need a full-time genetics physician located here with a broad range of expertise. And even one single geneticist may not be sufficient enough to handle the needs of Hawai'i."
Many insurance companies don't fully reimburse for expensive tests, treatment and medication, leaving the expense to families, hospitals and pharmacies, Winn said.
Some screening tests, counseling and dietician visits, for example, are not covered by insurance. And sometimes the cost to bring in certain medication is too high for pharmacies, which have become reluctant to order them because insurance companies won't offer adequate reimbursement.
"It's a money hole, for sure," said Tim Donlon, molecular genetics director at Queen's Comprehensive Genetics Center. "Part of the problem is the state has a screening program but no money allocated for follow-up. The state has good intentions, but what do you do after (the child has been diagnosed)?"
The state will continue to mandate newborn screening and offer expanded testing for rare metabolic disorders through the Hawai'i Newborn Metabolic Screening Program. But once the newborn is diagnosed, state officials now worry about what comes next with the closure of the Queen's metabolic and genetics clinic.
"We're very concerned," said Chris Matsumoto, coordinator of the Hawai'i Newborn Metabolic Screening Program. "And the families are extremely concerned."
Many of these patients can treat their disorders with strict diets. But Matsumoto worries that most pediatricians won't be familiar with these rare conditions or know how to treat them.
"Our families won't have access to people who know the diets best," Matsumoto said. "People have to really see the need for metabolic follow-up for these kids. They need geneticists, people who know what's going on. These kids' lives are depending on that."
Reach Catherine E. Toth at 535-8103 or ctoth@honoluluadvertiser.com.
