Air Force Wife Promotes Down Syndrome Awareness
A little extra genetic material on one chromosome; that’s all it takes to change a family’s lifestyle, often permanently.
For the Boccher family, a diagnosis of Down syndrome led them to plan for retirement in Arkansas since the state is full of resources for those impacted by the developmental disorder. They were already moving to the state as a result of Adam’s Air Force assignment.
Brittany and Adam Boccher’s 2-year-old son, Blake has Down syndrome, also called Trisomy 21. It is one of the most common genetic disorders in the country and about 5,300 babies are born with the disorder each year, according to the National Institutes of Health.
Prenatal testing has made it possible to screen Down syndrome in the womb, although the tests are not always accurate.
The Bocchers had a prenatal screening that showed soft markers for Down syndrome, but were told by a specialist that they saw nothing to indicate Down syndrome. So, it came as a surprise when Blake was born.
“Within a few hours of his birth, we had a neonatologist tell us that he did have soft markers for Down syndrome,” Boccher said. “They did a rapid test and I think we got official diagnosis the next morning.”
Boccher is now an advocate for Down syndrome awareness and founded the Down Syndrome Advancement Coalition of Arkansas earlier this year. Her oldest child, Harper, 4, does not have any disabilities.
“I get told, probably weekly, ‘don’t compare your child, especially your child with special needs, with another child,’” Boccher says. “But that’s very hard when you’re already a parent and you already have a child. Because all of the experiences that you already have are with a typical child.”
Boccher says that she “mourned” for the child she thought she was going to have. She thought her child would be a football star and maybe join the military like his father, but the reality is that Blake can never do those things. She says that allowed her to focus on loving the child she has.
Blake may never be self-sufficient and the Bocchers may spend the rest of their lives taking care of him in some way or another. But once she let go of the expectations she had for her son, Boccher was able to appreciate how great her son is.
Many Down syndrome families spend time jumping from clinic to clinic for therapy, doctor’s visits and more, but a one stop shop at Arkansas Children’s Hospital that opens this summer can help them save time.
An aim of the clinic is to consolidate as much of the care that they can into one clinic, so that parents can save valuable time traveling to appointments and waiting to be seen.
Suzanne Huetter is the advanced practice registered nurse in genetics and metabolism at Arkansas Children’s Hospital. The hospital’s commitment to Down syndrome care has led them to plan for a multi-disciplinary Down syndrome clinic at the hospital’s main campus. A clinic has been open since 2008 at the west Little Rock satellite office.
The clinic “will include some of the more common specialties that our kids with Down syndrome see, like cardiology, ENT (Ear, Nose and Throat), nutrition, audiology, pulmonary,” Huetter says.
Consolidating visits is helpful for families because Down syndrome care is often just one aspect of the health care a child needs. Half of all babies born with the disorder also have some type of heart defect. There are also a number of diseases that occur alongside the syndrome at higher rates, Huetter says.
The new clinic adds to an already robust network of Down syndrome resources in Arkansas, including facilities such as accessible playgrounds and a statewide support group called the Arkansas Down Syndrome Association (see below for more details).
For parents making the transition to being a Down syndrome family, Huetter has some advice: “You don’t know where their delays are going to be or what they’re going to excel at. You have a beautiful baby, enjoy that. Let’s do what we can to help with those delays, but treat them like a baby.”
Arkansas Down Syndrome Association
This association was incorporated in Arkansas in 2004 by a group of parents and volunteers. The group works to improve the health and wellbeing of people with Down syndrome and their families. Parents who are interested in joining can visit their website. Membership is $25 annually or $250 for life.
The website has a New Parent Guide produced by the National Down Syndrome Society available for free download as well as a host of other free resources collected in their Resource Library.
The site also has a calendar of events that can help families get involved in the cause.