Karen and Peter waited fearfully in the neonatal intensive care unit for days to be told the severity of Milo’s condition. Eventually, a speculative diagnosis was made — based solely on his physical abnormalities — and presented to them with a high degree of certainty. But the diagnosis didn’t fit what they saw in Milo.
As a professor, Peter had full access to the scientific literature on the syndrome the NICU believed was the cause of Milo’s abnormalities. He read everything he could find and was able to connect with researchers as a fellow academic to learn more. It soon became clear to Karen and Peter that the initial diagnosis was incorrect. There were some similarities with Milo’s condition, but too many important differences. They didn’t know who they could turn to for accurate answers. Genomics experts are mostly hidden in esearch facilities, labs and universities.
“Years ago, we did not have the guidance we needed to help our son. And he suffered through countless examinations because of it. We were forced to be our own advocates — poring over medical research and pleading with experts across the country. Today, Genome Medical exists so that other families will not have to experience what we did.”
– KAREN AND PETER, PARENTS OF MILO
They began their own research, and then raised their concerns to the medical staff, who quickly dismissed them as another example of “those parents” who cause trouble when they should have just followed what they were told.
Meanwhile, the hypothesis-driven diagnosis caused Milo to be subjected to test after test. He had just been born and already endured multiple blood draws that were especially painful for his small veins, endless physician visits and long waiting periods of agonizing uncertainty. Still no answers were forthcoming. Karen and Peter knew they had to take matters into their own hands.