Vibe coding my way to a healthy family: Introducing Gamow Labs - Daniel D. McKinnonDaniel D. McKinnon Skip to primary content<br>Owen arrives<br>On September 23rd, 2021, my first son Owen was born. Clearly inheriting his mom’s type-A personality, he arrived on his due date at a chunky 8.75 lbs. We were over the moon.<br>Until we weren’t. At a few hours old, we noticed cute snoring. The nurses noticed nostril flaring. He was having trouble breathing.<br>“No problem,” they said, “Many babies born at altitude need a little oxygen to get started.” We put him on an oxygen cannula.<br>A few hours later, his oxygen saturation was still falling. Nurses were panicking. The neonatology NP was paged in. She performed an emergency intubation and called for helicopter transport to Children’s Colorado.<br>By the time we arrived at Children’s, his oxygen had stabilized. The team reassured us there was nothing to worry about. Transitioning from “breathing” the mother’s blood to gaseous oxygen is hard (if you don’t know how this transition happens, read about it; it is fascinating). Big guys like him never stay long in the NICU.<br>Days turned to weeks. No one had any idea what was wrong. One pulmonology fellow suggested a structural problem with the lungs, but we bristled at the suggestion. Our little boy was perfect.<br>Until he wasn’t. A routine dressing change sent him into a pulmonary event. His oxygen plummeted. Alarms were ringing. Doctors were sprinting down our hallway. Our little boy was blue.<br>We were rushed into a consent for ECMO, a lifesaving surgery that oxygenates the blood outside of the body with a machine. It is used as a bridge to a permanent treatment, but was this a bridge to nowhere? We had seconds to consent. Without it, Owen would die. The neonatology chief assured us that no family had ever regretted the extra time with their child. We signed.<br>The surgery went smoothly. Owen’s blood oxygen was pinned at 100 for the first time in his life. But we had no idea how to get him off the machine.<br>A missed diagnosis<br>Owen’s care team suspected a lethal disease called alveolar capillary dysplasia (ACD). ACD is invisible to the naked eye, but victims have microscopic defects inside the gas exchangers in the lung. Previously, a diagnosis required an invasive operation involving extracting a piece of the lung, but in 2009 Paweł Stankiewicz discovered the genetic cause, enabling diagnosis with a cheek swab.<br>We collected a sample and sent it to the best genetics lab in the country for whole genome sequencing (WGS), the gold standard NICU diagnostic.<br>Days went by. We knew that “easy” cases came back faster. Ours wasn’t easy. Two weeks passed and the lab returned empty handed. Our boy wasn’t getting better, but he did not appear to have ACD. We had hope for a cure.<br>Over the next four weeks, that hope was slowly crushed. We tried one treatment after another. None worked. It became clear that Owen couldn’t survive outside the hospital. We made the hardest decision of our lives. We said goodbye.<br>Our search for an answer<br>We had previously reached out to Dr. Stankiewicz to take a look at our case. Saying goodbye would have been easier had we known with certainty there was no hope. But he couldn’t. Reanalyzing a genome is labor intensive and his lab receives queries from all over the world from desperate families. He needs to pick cases on which he believes he can be most helpful. In our case, it means seeing a pathologist-confirmed ACD diagnosis.<br>Post-mortem, we performed a lung biopsy. The pathologist clearly saw the thickened alveolar walls and disordered circulatory elements characteristic of ACD. With this evidence in hand, Dr. Stankiewicz offered to take a look at his genome.<br>Both relief and heartbreak swept over us when we received the call. Dr Stankiewicz discovered what took Owen from us. He was missing a 91 kilobase piece of DNA that enhanced the expression of FOXF1. Without this enhancer, FOXF1 expression was too low to promote healthy lung development.<br>We were relieved because we had an answer. People outside this world often question the point of a diagnosis without a treatment, but the knowledge itself can be healing. Knowing Owen’s fate was sealed at conception freed us from a lifetime of self-blame and questioning.<br>We were heartbroken because we put him, us, and the hospital staff through 8 weeks of avoidable hell (or 8 weeks + 9 months, depending on how you feel about pregnancy). Was there a way to break the expertise bottleneck we faced and scale Dr. Stankiewicz’s expertise to all babies that could benefit?<br>The origin of Gamow Labs<br>The years after Owen’s death were hard. Tori and I fell in love partially because we somewhat uniquely wanted a family in the anti-natal communitarianism of SF. But it wouldn’t be straightforward for us. However, after too much genetic testing and adoption training and 6 rounds of IVF, we finally had another baby boy, Warren, on the way.<br>We were elated, but a dark cloud appeared during the 16-week...