Kindergartners at Northwestern Elementary School in Zachary wore red in March in support of their classmate, 7-year-old Emma Kate Unglesby and to raise awareness for congenital heart defects.
When Emma Kate was born, her heart had two problems, both of which required surgical intervention, said Rachel Unglesby, Emma Kate’s mother.
“The first was congenital patent ductus arteriosus and the second was a much more complex defect known as complete atrioventricular canal defect,” said Unglesby.
Atrioventricular canal defect is a combination of several closely associated heart problems that result in a large defect in the center of the heart, according to the Boston Children’s Hospital website.
In 2009, parents Rachel and Trey Ungelsby flew to Boston Children’s Hospital to have their infant daughter’s AV canal defect repaired.
“Once we got to Boston we realized there was a new problem. We were devastated to learn that an echocardiogram revealed Emma Kate also had a narrowing of her left pulmonary artery,” Rachel Ungelsby said.
Emma Kate’s surgery was delayed so that a heart catheterization could dilate the artery, but on May 18, 2009, doctors performed open heart surgery and “everything went beautifully.”
However, as Emma Kate’s development fell further and further behind, the Unglesbys continued to search for a diagnosis.
With Down syndrome and skeletal dysplasia ruled out, the family was at a loss until a 2010 diagnosis from a chromosomal microarray analysis revealed Emma Kate had an extremely rare genetic condition known as 2Q37 deletion syndrome.
When she was diagnosed, Emma Kate was one of only about 90 reported cases in the world, according to the Unglesbys.
The condition can affect many parts of the body and is characterized by hypotonia (weak muscle tone) in infancy, mild to severe intellectual disability, developmental delay, behavioral problems, characteristic facial features and other physical abnormalities.
“Our lives are filled with daily challenges that come with raising a child with special needs, and there are many doctors’ appointments and therapies, but more than that, our lives are filled with joy, love and thankfulness for Emma Kate and her two younger brothers, Thomas and Luke,” said Unglesby.
Northwestern Elementary students raised more than $260 March 13 that they donated to the Louisiana Pediatric Cardiology Foundation, which assisted the Unglesbys with medical expenses associated with their daughter’s open heart surgery in 2009. For more about Emma Kate, read her mother’s blog at babyemmakate.blogspot.com/2014/03/from-beginning.html?m=1.