His parents’ odyssey to uncover a unique genetic mutation.
It seemed like a typical pregnancy at first. But Karen Park and Peter Lorentzen soon realized that their son would not have a typical childhood. Milo was born with several significant anomalies that doctors determined were caused by unknown genetic mutations.
Even with Peter’s academic background, seeking out similar cases was like navigating a strange city without a map. They chased every lead they could, and eventually came across the blog of a man whose son has a different rare genetic disorder. He had gone through much of what Karen and Peter had with a similar pattern of misdiagnosis. He introduced them to a team of geneticists who would analyze Milo’s DNA using exome sequencing. What they found was a genetic mutation that had never before been documented. Finally having the concrete evidence they needed, Karen and Peter began to find other children with the same symptoms as Milo. Their search for answers continues, but they believe this previously undocumented mutation is the cause of their son’s condition.
Genome Medical exists so that other families will not have to experience what they did.
Karen and Peter regret that Milo had to suffer through countless examinations over the first few years of his life because exome analysis was not offered upfront. They were forced to be their 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 they did.
Our genetic specialists integrate genomic medicine and genetic counseling for faster and more accurate diagnoses. They determine the right tests early and help interpret the results to connect people with the right specialists. With Genome Medical’s help, Karen and Peter could have focused on their son rather than building their own network of geneticists.
No one should have to fight so hard for answers. Genome Medical now provides support and care coordination so that you and your loved ones will never be alone on your genomic journey.