An Irish couple who lost two children to a rare genetic disorder is participating in a large project to map the genomes of families in order to help prevent other couples from experiencing their grief.
Laura and Michael O’Hare have had to do the unthinkable twice; they’ve buried both their children, who never made it out of infancy. When their first daughter, Anna, died 29 days after she was born in 2016, the couple were heartbroken, but they figured it was simply the hand of fate.
During a scan at the 20th week of pregnancy, doctors told Laura “there may be an issue,” and sadly, there was. But the medical team thought the tragedy was “a one-off,” and the O’Hares decided the best thing to do was try again.
And then it happened again. In 2017 Laura gave birth to their second daughter, Olivia. This child only lived for two months. Michael O’Hare said the couple was again “devastated,” but what made it the hardest was having no answer as to why such a rare tragedy struck their family twice.
When they met Dr. Shane McKee they took their first step toward getting those answers. Mckee is a genetic medicine consultant at the Belfast Trust in Northern Ireland. He has been working with the 100,000 Genomes Project, which aims to completely map the genomes of 100,000 people across the UK who suffer from rare genetic disorders. The hope is to identify the genes responsible.
So far the project has mapped the genomes of tens of thousands of such patients and their families, which helps to identify the genes leading to these disorders.
When Dr. McKee met with the O’Hares, he enrolled them in the project, and that’s when the grieving couple finally got an answer. Their daughters had died from a disease known as Fowler Syndrome. The disorder affects babies while they grow in the womb. The condition spurs the blood vessels inside the brain’s lining to grow too much, which stops the necessary migration of some brain cells from the inner to the outer regions of the brain.
While nothing can take away the pain of their loss, the O’Hares say they’re relieved to know what was wrong with their daughters. They say they hope that adding their story to the 100,000 Genomes Project will help prevent what happened to them from happening to other families, or at least that their story will make others feel less alone.
