Extension educator screens Connecticut newborns for metabolic disorders

Left to right: Deb Ellis, Joseph Tucker, Sherry Gray, Ginger Nichols, Jackie Beirne
Left to right: Deb Ellis, newborn screening nurse; Joseph Tucker, geneticist; Sherry Gray, metabolic nutritionist; Ginger Nichols, genetic counselor; Jackie Beirne, geneticist.

Extension Educator Sherry Gray divides her time between educational outreach in community nutrition and clinical nutrition, where she works with patients who have metabolic disorders. As a faculty member in UConn Extension, she provides programs in food and general nutrition and supervises the federally funded Expanded Food and Nutrition Education Program for Hartford County, helping low-income families learn about healthy eating, shopping on a budget, cooking and physical activity. And, funded by the Connecticut Department of Public Health and the Connecticut Children’s Medical Center, Gray tracks and treats metabolic disorders in Connecticut newborns.

Unless a parent declines to test their newborn, every baby born in Connecticut is screened for more than sixty medical conditions. The program began in the 1960s, testing for eight conditions, but with improvements in technology and advances in medicine, additional treatable conditions are now flagged. When a baby is diagnosed with a condition, they are sent to Connecticut Children’s or Yale New Haven Children’s Hospital for treatment.

Of the sixty-six conditions for which screening is currently done, sixty are metabolic disorders. “While the actual incidence of these disorders does not appear to be increasing, we’re picking up more cases through screenings,” says Gray, a metabolic nutritionist. “Prior to these screenings, many children became ill or died of unknown causes.”

“The conditions tested for are severe and have lifelong consequences,” Gray says. The most common is phenylketonuria (PKU), an amino acid disorder, but also included are urea cycle disorders and fatty acid and carbohydrate disorders.

The majority of these conditions require precise dietary treatment, which is where Gray comes in, serving as one of two clinical dietitians at the Farmington-based Connecticut Children’s metabolic clinic. Other staff include a nurse, a genetic counselor and two physicians.

Says Gray, “My background is in public health, and this clinic is about assisting these patients and integrating them into their communities, schools and homes. I work with school systems and community organizations. My goal is to help patients achieve good health adherence and live healthy lives.”

Gray works with parents and patients on their dietary plans, performs follow-up visits and assists with insurance. Even though these conditions can result in significant disability or are life-threatening, insurance companies often refuse to pay for costly dietary treatments.

“Most of these conditions are pretty devastating, often leading to major cognitive disability, seizures, coma or death,” says Gray. “The biotinidase deficiency disorder is one of the least serious of the group, and still causes profound deafness. Another disorder called medium chain acyl-coA dehydrogenase deficiency, or MCAD, is found to be a major cause of sudden infant death. This fat disorder is a risk factor for SIDS as babies who are not diagnosed and sleep too long or are ill can die overnight when their blood sugars drop.”

“Because of the seriousness of these conditions, much of my work is dealing with insurance,” Gray says. “I have to fight because insurance does not want to pay for diets that can cost a family anywhere from $8,000 to $20,000 per year.”

In addition to the cost, dietary limitations are not easy for parents or older children. For instance, babies with PKU must drink a special formula all day and consume a completely vegan diet. Children must drink metabolic formula and avoid high-protein foods that include eggs, dairy, chicken, nuts and seeds, and must eat special order low-protein foods such as pasta, bread and crackers. “Even a food you would think is pretty low protein, like regular spaghetti, is too much for these children,” Gray says.

Treatments are improving for some of the conditions. A medication called Kuvan for PKU can lower blood phenylalanine levels for patients who respond and can allow them to eat a greater variety of foods. And a newly approved injection therapy called Palynziq will allow patients over eighteen to eat a normal diet.

For most of the other conditions, dietary restrictions are the only way to keep the children healthy. This can be particularly difficult for teenagers, a time of life when extremely limited diets can be confusing and isolating.

“It’s difficult to adhere to when you’re out and about,” Gray says. “Food is so social, and for many of our adolescents, they go out and they can’t even have a slice of cake. They might not be able to eat anything in a buffet aside from a fruit salad, vegetables or French fries. That’s really tough on a college student.”

Diet adherence may be difficult, but it’s essential. While older kids and adults with PKU may cheat on their diets, chronic high levels of prohibited foods may lead to depression, anxiety or neurological problems.

The clinic also provides hands-on opportunities for students at UConn. “Our connection with the College is very important,” says Gray. “We have quite a few undergraduate and graduate students from allied health sciences and nutritional sciences, as well as UConn Health residents. It’s very interesting and eye-opening for students.”

“We’re all genetic carriers of something, it’s just a matter of the connection with a partner. Genetic counseling is very important because they provide a risk assessment. Most metabolic disorders are autosomal recessive inheritance, meaning both parents need to be carriers for the disorder for a baby to be affected. We have very specialized genetic testing available for patients.”

Other members of the team are Connecticut Children’s pediatric endocrinologist Karen Rubin, who serves as lead principal investigator for the grant, and Joseph Tucker, medical geneticist and co-PI.

By Kim Colavito Markesich