WHITE CLOUD, Mich. (March 26, 2014) — A West Michigan family is battling with a rare medical condition that even experts don’t fully understand yet.
It’s an immune deficiency disorder that makes the family members more susceptible to disease and sickness.
It’s so rare, the family said that they’re five of the only 22 cases known in the entire United States. Researchers at the National Institute of Health Clinical Center in Maryland said that there are approximately 40 known cases in the entire world.
For years, William and Amy Shea have been trying to find out why their children get sick so easily, seeking help from doctors outside of Michigan for answers.
The Shea family only learned of the rare diagnosis a month ago, partly because the National Institute of Health Clinical Center said that it has been less than three months since the condition was even published in medical journals for the first time.
The family’s specialist in Grand Rapids referred them to researchers in Maryland.
After several tests, Amy Shea, her three children and Amy’s younger brother were diagnosed with a genetic mutation in a gene called PIK3CD. It’s a condition that limits the body’s ability fight off bacterial and viral infections and dysregulates cells from the immune system.
Dr. Sergio Rosenzweig, Director of N.I.H.’s Primary Immunodeficiency Clinic told FOX 17 that the Shea family is more than just patients, but partners in their groundbreaking research.
“It’s so new, nobody knows what to expect. We don’t know what their course of treatments are going to be,” said Amy Shea.
In an attempt to stay healthy, the Shea family said that it disinfects surfaces in their home daily.
“By the smell of bleach in the air, we keep things fairly clean,” said William Shea.
Their three children with the condition attend public school. Amy and William said that it’s a constant worry other children who aren’t vaccinated could spread an illness to their children, which could have serious consequences, including death.
“Fevers and vomiting. I’m worried my child will come home with that more so than getting shot by a crazed gunman,” said Amy Shea.
As a precaution, the children bring their own water to school, instead of using public drinking fountains.
Despite the risk, the family said that it’s important to allow their children to interact with other kids their age.
Dr. Rosenzweig said despite there being only approximately 40 total documented cases in the entire world, researchers are diagnosing more every week as word is spreading and more tests are being done.