Until genetic testing saved his life
February 5, 2025 • 4 min read
First came a high fever and a fungal infection that required a night in the hospital when Simon was just 11 days old. The doctors thought it was just a fluke.
Nine months later, a simple scratch resulted in a bone infection.
Then he didn’t respond to his routine vaccinations and was not developing the usual antibodies. Simon’s doctors attempted to revaccinate him, hoping that his body would respond as he matured—but they also warned that he could have an underlying immune deficiency.
A couple of months after that, Simon developed large lymph nodes on his back and neck along with a high fever. After several tests conducted in the hospital came back without any answers, his doctors began to suspect his condition might be a rare genetic disease.
After an initial genetic test (a multi-gene panel) didn’t find a cause for Simon’s symptoms, Sandie and her husband started scouring the internet for answers. His medical history, combined with the fact that his newly emerging teeth were unusually sharp and cone-shaped, led them to wonder if he might have a condition called NEMO deficiency syndrome (NEMO for short).
“The doctors wouldn’t prescribe medication for that without a formal diagnosis,” explains Sandie. Fortunately, their family was able to see a geneticist, who ordered genetic testing from GeneDx.
“GeneDx proved it,” says Sandie. Simon had NEMO, a disease so rare that there are only about 200 known cases in the world.
NEMO is a primary immunodeficiency caused by a genetic variant in the IKBKG gene. It predisposes a person to frequent and serious infections. Severe cases can be life-limiting.
“The GeneDx test helped save Simon’s life,” Sandie says.
With the answer from GeneDx, Simon and his family finally had an explanation for his frequent infections, lack of response to vaccinations, and even his sharp teeth. The genetic diagnosis also showed that Simon had been on the wrong medications—something his doctors were able to change immediately.
It also enabled the family to connect with doctors familiar with the rare disease. “Our GeneDx diagnosis led us to the NIH and then to Texas Children’s Hospital and one of the few doctors in the country who had experience with NEMO,” says Sandie. “We moved to Houston for 5 months for Simon to get a bone marrow transplant—which was covered by insurance because we had the genetic diagnosis.
“The transplant went well. We were one of the lucky ones; because Simon was diagnosed relatively early in life, he didn’t have any internal organ deterioration that could have made it too dangerous to attempt the transplant.”
Today, the family no longer worries about severe infections. “Before the transplant, we kept Simon away from other people as much as possible because if he breathed in some virus or bacteria in the air that the rest of us would be completely okay with, he may not have been able to fight it off.”
In fact, Simon is doing so well that this fall he was able to start school. “I cried the first time I walked into the kindergarten class. All these emotions hit you when you realize you are through it and on the other side. Simon now has friends his own age. It’s nice to see him living his life and getting back to normal,” concludes Sandie.
The family even got to take Simon swimming in a river and a lake for the first time, which was completely off limits until recently.
— Simon’s mother, Sandie
