GRAND RAPIDS, Mich. (WOOD) — It’s World Primary Immunodeficiency Week and advocates hope people will become more aware of the battle some patients fight against rare, often hard to diagnose diseases and disorders.
Primary immunodeficiency diseases happen when part of the immune system is missing or functions improperly. One of those cases happened in West Michigan.
Emmett Dieleman is only 9-months-old but has spent much of his life in a hospital room at Helen DeVos Children’s Hospital.
After a normal and healthy birth, Emmett spent some time in the NICU after his mother, Heather, was discharged.
“We were home for maybe a few hours, and we got a call. All his symptoms started, low platelets, blood in the stool. That started this journey,” VanAller said.
Dr. Nick Hartog, an allergy and immunology doctor, said as Emmett’s symptoms evolved, it became clear he had inflammatory bowel disease, which is abnormal for children.
“Often, there’s a genetic cause for that and it’s often time an immune deficiency,” Hartog said.
At first, Hartog couldn’t put a name on what was making the boy sick. But a form of genetic testing known as whole exome sequencing provided the answer.
“It did come back with a variance in protein called WDR1. That absolutely explains everything that’s going on,” Hartog said.
WDR1 is so rare Emmett is only the 13th person in the world to have the deficiency. In January, he became only the third to have a bone marrow transplant to cure it.
“He’s a completely different baby. He actually looks like a normal baby,” VanAller said.
Emmett has this new lease on a healthy life, thanks to a stranger who matched as an unrelated donor.
“We know it’s a male and we know he’s somewhere in the United States. We hope when that year mark comes, he’s willing to meet us because it’s a big deal,” VanAller said.
Doctors will continue to keep a close eye on Emmett, but soon, he’ll be headed home.
“He’s the best baby. Throughout all of this, he’s been really happy,” VanAller said.
**Editor’s note: A previous version of this story incorrectly stated Emmett’s last name was VanAller. Emmett’s last name is Dieleman. The story has been updated. We regret the error.