Death of infant solves a 45-year-old medical mystery

The disease, SCAN-4, is the first of it’s kind reported

NEW HAVEN, Conn. (WTNH) — Erik Drewniak is alive and well. But in July of 2012, he was admitted to Yale New Haven Hospital with a condition which baffled doctors.

“I’ve had fevers, periodically my whole life, usually when I get them they are pretty high. But usually they didn’t land me in the hospital. I wouldn’t even go to the doctor and I would just ride it out, take Advil, whatever.”

This time his symptoms were so severe, he was put into a medically induced coma. And it came on the heels of the unexplained death of his 23 day old son at Yale New Haven Children’s Hospital, who was buried just two days earlier.

“He was fine for the first four – five days but then he developed severe diarrhea that wouldn’t stop.”

That got the attention of Pediatric Immunologist Dr. Neil Romberg at Yale School of Medicine, who was already on Eric’s infant son’s medical mystery.

“When we found out that the father was admitted to the hospital and that he in fact had fevers and diarrhea in the first year of life and fevers throughout his life, we knew this probably was not a coincidence.”

Undaunted, they relied upon cutting edge-technology, performed by Dr. Richard Lifton, Chairman of Genetics at Yale. It enabled researchers to study all the genes in the body at the same time in rapid time.

Dr. Romberg said, “there is a lot of data and so it’s sort of up to the people who are doing the detective work, which are real clues and which are red herrings and there were a lot of that in this case.”

From there, they identified a mutated gene, NRCL-4, which Eric carried unknowingly and passed onto his deceased son.

“NRCL-4 is really important for detection of infections, said Dr. Romberg, “and in Mr. Drewniak’s family, the mutation makes it so that it is basically always thinking there is an infection present which is why fevers are a problem.”

The family’s disease, named SCAN-4, is the first of it’s kind reported. Drewniak’s living seven year old son also has the gene. But it was the unexpected death of his youngest that triggered the discovery.

Drewniak said, “in a sense he saved my life and in a sense that without his death, then the autopsy and the investigation that came from that — then there is the possibility the genetic connection never would have occurred to anyone or the possibility of it.”

Dr. Romberg emphatically said, “we were caught flat footed with the infant but we were unwilling to let that happen again with Erik or his seven year old son.”

Drewniak was treated with steroids and other drugs and had to undergo extensive rehab to regain the use of his muscles. Dr. Romberg does not know of other families affected. He is looking into how stress can trigger the severe episodes of inflammation.

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