The death of a newborn baby boy and the ensuing illness of his father prompted researchers to carry out genomic analysis to reveal if there is a connection between the two cases and uncover any underlying family disease. Following the death of his son, Erik Drewniak developed some of the symptoms that were manifested by the newborn and he had to be hospitalized for treatment as he was suffering from a high fever, hemorrhaging in his brain, lungs, and intestines, as well as severe respiratory distress.
Researchers from the Yale School of Medicine wanted to establish if there was any association between the father and his deceased son's cases. To do this, they conducted a genomic analysis and found that Drewniak had a protein-altering mutation. A condition that was not present in both his parents, but that he has passed on to his sons. This genetic disorder is characterized mainly by dangerous sudden increases in temperature and inflammation. Yale Sterling Professor of Genetics, Prof. Richard Lifton, said, "This is a great example of what we can do at Yale, seamlessly combining incisive clinical observation with genome sequencing, computation analysis, and biochemistry."
Following the discovery of the root cause of the symptoms experienced by Drewniak, doctors were able to come up with a successful treatment plan to manage his symptoms. Drewniak has now been released from the hospital. Looking back, he recalled having suffered from similar illnesses while he was growing up, and says that he has even experienced stress or fatigue-induced deliver throughout his entire life.
According to associate professor, Dr. Barbara Kazmierczak, co-author of the study and part of the medical team that treated the 23-day-old infant, "It is tragic that we were unable to save the baby, but grateful that his illness led to the diagnosis kiss father and brother. Moreover, because there is an approved inhibitor of the inflammatory cascade caused by mutation, this finding has therapeutic implications for other patients found to have this rare disease."