Marilee Killpack describes the birth of her fourth son, Abram, as “magical.”
After a typical, full-term pregnancy, Abram was born in Provo, Utah, weighing 9 pounds. He seemed to be healthy and strong, with one exception: He had petechiae all over his body — red dots that appear on the skin when tiny blood vessels break.
Providers suspected the marks were bruises from his quick birth, but blood tests revealed his platelets were extremely low and his immune system was not making enough antibodies to fight infections.
Abram was taken to the neonatal intensive care unit at his local hospital for platelet and immunoglobulin infusions. Still, his blood counts continued to drop. The family was transferred to a nearby children’s hospital where providers determined he had mononucleosis, which they suspected was causing his immune deficiency.
“They said he would be fine in a few months and sent us home,” Killpack remembers.
But Abram was not fine. He developed severe, uncontrollable eczema when he was 3 weeks old.
“His body was shredded,” Killpack said. “We tried everything — lotions, oils, anything we could think of — but nothing worked. He was screaming; he was in so much pain.”
When providers saw Abram’s skin, they immediately sent a sample of his blood for genetic testing. They suspected he might have a rare, life-threatening disorder called Wiskott-Aldrich syndrome (WAS). Read full post »