Treating ‘NEMO’: Baby becomes 22nd registered case of rare disease
Five hours after Elias was born, he turned beet red from head to toe.
His parents, Evelyn and Antonio Argirokastritis, were told not to worry. That it was most likely an allergic reaction or a bad case of eczema. But as the days went by, Elias broke out into pimple-like rashes, and his skin started peeling “like a horrible sunburn,” Evelyn said.
Fevers, lethargy and severe feeding troubles that caused weight loss followed, with Elias in and out of a hospital near the family’s home in Macomb, Michigan. But the mysterious symptoms kept getting worse.
“The doctors were at a loss. We knew something was really wrong and that we had to get him to the right place,” Evelyn said.
At 3 months old, Elias was transferred to C.S. Mott Children’s Hospital, where he had several tests. The result: Fungus was growing in his lungs. His white blood cell count was abnormally high. And the baby boy was fighting three viruses and three bacterial infections.
“The doctor told us that these symptoms basically tell us his immune system isn’t working,” Evelyn said.
Elias was diagnosed with a rare immunodeficiency disease called NEMO, nuclear factor-kappa B essential modulator deficiency syndrome. The complex disease is caused by genetic mutations in the X-linked NEMO gene, affecting the skin and immune system and making patients susceptible to severe and life-threatening bacterial infections.
It affects only boys and is so rare that Elias’ diagnosis last October made him just the 22nd registered NEMO case in the U.S. Immunodeficiency Network (USIDNET) — a research program funded by the National Institutes of Health to help advance scientific research in primary immune deficiency diseases.
A need for a new immune system
For Elias, even minor illnesses could be life-threatening.
At Mott, he receives regular IV immunoglobulin infusions, which involve purified plasma pooled from thousands of blood donors along with other supportive care. The infusions give him antibodies to help keep him healthy.
“NEMO is an incredibly rare and complex disease that we are still working to fully understand,” said Mott pediatric hematologist Kelly Walkovich, M.D. “Because Elias’ parents followed their instincts when there were no good explanations for his symptoms, our multidisciplinary immunohematology group was able to diagnose him quickly and begin treating the disease early enough to boost his immune system.”
His family hopes his case helps answer more questions about the disease.
“He is one of the youngest diagnosed patients, so maybe whatever is learned from him can add to research and help save other lives,” Evelyn said.
For now, Elias needs a bone marrow transplant to replace his faulty immune system with a healthy one.
His parents and volunteers have held bone marrow drives in the state, across the country and around the world, including in Greece, where his parents’ families are from. Finding a match is sometimes most successful with donors who share ethnic origins, and Elias’ parents are Greek-American.
Evelyn hopes to find a match so her son can grow healthy and enjoy regular life with his family, including big sister Eleni, 2.
“New bone marrow is the only way to give him a new immune system that works,” Evelyn said. “We all have plenty of bone marrow, and he needs just the smallest amount to overcome this. A bone marrow donation can give kids like him their whole life.”
For more information on how you can become a bone marrow donor, visit join.bethematch.org/babyelias.
For more stories like this one, check out the Michigan Health Blog.