For parents-to-be, preparing for a baby typically includes getting a crib, selecting a pediatrician, and thinking about babysitters. Another important part of making sure your child has the best care is genetic testing. It’s an area with which many parents could be more familiar. Genetic services at Children’s Hospital of Illinois have expanded with the recent addition of clinical geneticist Josue Flores, MD. Patients and families throughout Illinois now have greater access to genetic testing and counseling— close to home.
For Erin Breyne, mother of 1-year-old Emma Myers, genetic testing might have eased the extreme anxiety she and her husband felt during their daughter’s first days of life. “Emma struggled with feeding and seemed weak,” Breyne says. “She was sick from birth, but we didn’t know why.” During a state-mandated newborn screening test, Emma was diagnosed with a hereditary disorder called very-long chain acyl-CoA dehydrogenase (VLCAD) deficiency. This rare condition prevents the body from converting fat into energy. VLCAD is often spotted during infancy or early childhood. It can cause low blood sugar, lack of energy, muscle weakness, and even life-threatening heart and liver problems. Emma was referred to Children’s Hospital geneticist George Hoganson, MD, associate professor of genetics at the University of Illinois College of Medicine at Peoria. “We did the usual screenings during pregnancy, such as the test for Down syndrome. What we didn’t know was that my husband and I both carried the recessive gene for VLCAD,” Breyne says. “If we had seen a geneticist before we started a family, we could have been prepared. That way Emma would have received the care and nutrition she needed right away, instead of spending time trying to figure out what was wrong with her.”
First birthdays are meaningful to families. Emma’s first birthday this past September was particularly special for her family. Breyne invited members of Children’s Hospital to celebrate the milestone with their family. “We’re so grateful to have Children’s Hospital.” Breyne says. “We don’t have to go all the way to Chicago for help. We have caring genetic counselors 10 minutes away and they’ve made themselves available to us around the clock.”