The Down Syndrome Genetics Follow-up Clinic at the Munroe-Meyer Institute works with families whose babies have been diagnosed with Down syndrome to set the parents and child up for success. The clinic offers education, recommendations for health care and avenues of connection to community and MMI resources all year long, but it’s highlighted during October, which is Down Syndrome Awareness Month.
“It’s all about the families and how all of us can be helpful,” said Beth Conover, a genetic counselor and pediatric nurse practitioner.
Conover has spent more than 30 years in medical genetics, most of those at MMI.
At the clinic, Conover sees babies with Down syndrome when they are about 6 months old. Many have been seen soon after birth by a medical geneticist and genetic counselor for diagnostic testing and initial genetic counseling. Conover helps review genetic information already discussed in the newborn period, assesses how the family is doing and determines what resources might be helpful. Conover explains test results and discusses the cause of Down Syndrome – an extra chromosome – as well as outlines the recurrence risk for parents and other family members.
Conover also shares recommendations from the American Academy of Pediatrics about health surveillance, including hearing, vision and thyroid function.
“I don’t think parents realize how much they have accomplished. They’re navigating a complicated system,” Conover said.
In cases where tests have been missed or delayed, the clinic will work with health care providers to order them.
“It is easy for some things to be skipped when the family and health provider are juggling lots of issues,” she said.
One of Conover’s favorite referrals is to MMI’s parent resource coordinators. The PRCs — also available for families who speak Spanish — help with navigating complicated medical and social service systems, such as applications for supplemental security income.
Families also may be referred to MMI’s physical therapy, occupational therapy or speech-language pathology departments, and MMI has a speech preschool that many children with Down syndrome attend.
“It is so popular that families put their babies on the waiting list as infants,” Conover said.
Other community resources include early childhood education through the schools; Children’s Nebraska, which has a clinic for older babies and children with Down syndrome; and the Down Syndrome Alliance of the Midlands, which offers advocacy, new baby packets, a Facebook page and social/educational activities.
Kids with Down syndrome may encounter extra challenges in medical areas and schooling but are typical in many ways, Conover said.
“I believe in the potential of people with Down syndrome,” she said. “I want to make sure nothing is getting in their way. We have many resources in Nebraska, and we are proud that MMI is part of that.”