Cameron’s Story
Cameron Coslov was born to Nick and Nicole Coslov in 2010, as one of fraternal twins. He was treated immediately in intensive care for low blood sugar, but further symptoms presented themselves as time went on. Cameron struggled to feed and lift his head as an infant and his overall development was delayed, particularly that of speech and fine motor skills.
Cameron was originally misdiagnosed with cerebral palsy and given stem cell treatment for this condition; however further testing disproved this hypothesis. The clinical teams supporting the family were at a loss as Cameron’s symptoms and test results did not fit the pattern of any common disorders. The family was offered genetic testing but their hopes for a concrete diagnosis were again shattered as Cameron’s genome did not contain any known disease-causing variants. There was, however, a particular variant in a gene called PI4KA, encoding for the enzyme phosphatidylinositol 4-kinase alpha, but this had not to date been described as a disease-causing gene and there was no information for the Coslov family to move forward with. They seemed to be on their own.
After nearly ten years of tirelessly searching for answers, the Coslovs turned to Rare Genomes Project of the Broad Institute of MIT. Through the research undertaken at the Broad Institute, evidence was gathered around Cameron’s PI4KA variant and it was uploaded to Matchmaker Exchange- a site that connects clinicians and scientists working on particular genes. This crucial step finally led to a concrete diagnosis for Cameron, ten years in the making! Unknown to the Coslovs, there were a number of families in the Amish and around the world with this condition also searching for answers. A study by researchers at the University of Exeter in the UK (led by Professors Crosby and Baple) had identified several families with the disorder and the results described the newly-recognised PI4KA-related disorder in the journal Brain.
With a diagnosis finally in hand, the Coslovs have turned all their efforts to raising money and supporting research into understanding and treating PI4KA-related disorder. They have worked with the Exeter team to develop this website and to coordinate ongoing research into the condition aimed at understanding how children are affected and develop more effective clinical management strategies. They are optimistic about what the future might hold and hope you will join them on their journey of advocacy for the PI4KA community!