The first year of Adilynn Shook’s life has been a proverbial rollercoaster ride whose twists and dips have come from a confluence of maladies. The most recent turn is a still unknown ailment that has the constantly smiling child stuck at home for the foreseeable future.
Nicknamed Addie by adoptive parents Laurie and Collin Shook, the Tempe child’s health problems emerged in the first month when doctors discovered holes in her heart. Additional problems like double pneumonia and an incident in which she turned purple began a period that took her to Banner Children’s at Cardon Children’s Medical Center in Mesa on frequent occasions.
The eventual diagnosis was CHARGE Syndrome, a collection of disorders encompassing an eye disorder, heart defects, nasal passage blockage, slow growth, and genital and ear abnormalities. The combination ensures that one problem will exacerbate another, and required Addie to have a feeding tube placed right into her stomach to ensure she did not regurgitate her food.
Addie’s situation has continued to worsen in the last five months, as Laurie said her daughter will spend a month under quarantine at home due to an issue with her immune system. Laurie said it’s added yet another hurdle to the family’s attempt to establish something even resembling consistency.
“It was a good little hit; I felt like I was hit in the stomach with a baseball bat,” she said.
Laurie said the new round of problems has caused her daughter to lose a significant amount of weight and has forced the family to Addie like a bubble child. That means a limit on who can enter the Shooks’ home and a number of precautions to limit the risks of any potential illness. That means frequent hand washing, removing shoes when entering the home and even changing out of any clothing worn outside the house.
Cardon immunologist Dr. Neal Jain said Addie has undergone numerous tests to determine the root of her immune system issues. There are a lot of options for what could be wrong, and the case has led to the inclusion of immunologists from Duke University to help determine it, but the issues tied to CHARGE Syndrome have served as a hindrance to a proper diagnosis.
“She’s a tough kid to draw blood from and it requires a lot of blood to diagnose it,” he said.
Fortunately for Addie, the doctors believe the problem is not related to severe combined immunodeficiency — a combination of disorders inherited genetically that can cause fatal abnormalities in the immune system.
Jain said it takes a blood test to diagnose it early on in life, and he said immunologists and beyond are pushing to make that test mandatory for newborns.
“We have to identify these kids early in life,” he said. “It helps us know when to worry and or when we have a little more time.”
Knowing that it’s not SCID is helpful, but it doesn’t provide a proper answer to what is plaguing the Shook’s daughter. The issues, though, have forced Addie to relearn how to stand up and sit down, although Laurie said her daughter has made notable strides thus far.
“She’s shocking everyone; she shouldn’t be doing a lot of what she’s doing,” Laurie said.
And one thing Laurie said hasn’t left Addie is the bright smile that charms visitors and strangers with ease.
Life has been difficult for the Shooks over the last year, but Laurie said her trooper of a daughter has served as a role model for the family.
“It’s not easy but it’s worth it. She’s such a miracle that if she can do it than we can do it,” she said.
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