Infant’s Death Leads To Discovery Of Mystery Family Illness By Yale Researchers

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For more than 40 years, Erik Drewniak has been plagued by high fevers and chills and never knew why.

Whenever he got a 104 or 105-degree fever that would linger for a day or two, he and his family always figured that was just “how he got sick.” He still was able to excel at school, play sports and live a normal life, but the fevers would strike intermittently.

It wasn’t until late 2012 into early 2013, following the death of his newborn son, that Drewniak learned what has been causing his fevers. He has an extremely rare gene mutation that Yale School of Medicine researchers uncovered through DNA sequencing.

“I’m definitely grateful,” said Drewniak, 45 of Fairfield. “When they discovered this mutation it explained a lot of things, looking back, for me and my family, including regarding the cause of the death of my infant son.’’

Erik Drewniak

Yale News Photo

Erik Drewniak

The Yale research that led to the discovery recently became public when it was published in the Nature Genetics journal earlier this month.

Drewniak was admitted to Yale-New Haven Hospital in July 2012 with one of his high fevers, along with severe respiratory distress and hemorrhaging in his lungs, intestines and brain.

His infant son, who was 23 days old, had died a couple of weeks earlier. Doctors were trying to figure out what killed the baby, who experienced some of the same symptoms as his dad, and whether there was a connection.

Drewniak’s symptoms were severe. He was hospitalized for nine weeks and spent three of those in a medically induced coma, he said. His illness prompted researchers to consider DNA sequencing.

Through DNA sequencing, Yale School of Medicine researchers learned that Drewniak, the newborn and Drewniak’s older son all shared the same protein-altering mutation, which causes fever and inflammation to occur in the body even when there is no infection present.

DNA sequencing determines the precise order in which nucleotides (organic molecules) appear in a DNA sample. Yale researchers determined the sequence of all 21,000 genes in the genome of Drewniak family members.

Drewniak has no family history of the mutation yet passed it along to his deceased son as well as his other son, now 7. The single father also has an 11-year-old daughter who does not have the mutation.

Once he learned he has the mutation, around January 2013, Drewniak said he began piecing together parts of the puzzle. His newborn son, for instance, suffered mainly from intestinal problems but did have a high fever once before he died.

Thinking back, Drewniak remembered: “I had severe intestinal issues when I was very young, just like my son.” Soon after he was born, Drewniak spent months in a Boston hospital with a high fever doctors couldn’t pinpoint the cause of – they dubbed it “failure to thrive,” Drewniak said. “Somehow I got better” and left the hospital, he said.

Today Drewniak and his surviving son who has the mutation are healthy. They are not medicated, but through Yale’s finding they know that there are certain anti-inflammatory medications they can turn to if they need them in the future.

“We’re both doing well now, fortunately,” Drewniak said.

He is grateful researchers at Yale were diligent.

“This is a great example of what we can do at Yale, seamlessly combining incisive clinical observation with genome sequencing, computational analysis, and biochemistry,” Richard Lifton, Sterling Professor of Genetics, said in a statement. He is co-senior author of the published paper detailing the discovery.

One thing that originally tipped researchers off to the mutation was that Dr. Neil Romberg saw the infant at the hospital before his death and noticed signs of an inflammatory disease. Romberg is assistant professor of pediatrics at the Yale School of Medicine and first author of the study.

“This study highlights the utility of genome sequencing in establishing a diagnosis for patients with unexplained illnesses,” Romberg said in a statement.

The study, funded by National Institutes of Health and Howard Hughes Medical Institute grants, will benefit others who suffer from the same disease by providing them with a treatment, researchers said.

“It is tragic that we were unable to save the baby, but (we are) grateful that his illness led to diagnosis of his father and brother,” Dr. Barbara Kazmierczak, Yale’s associate professor of medicine and co-senior author of the paper, said in a statement.

In sharing his story, Drewniak hopes to help others who suffer from similar symptoms – such as the high fevers that have affected him for so long. Genetic testing could hold the key to helping them, he said.


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