It was just a few days before Anna’s birthday and, after being in several different hospitals, we were about to receive the long-awaited answer. It didn’t seem true that we could name Anna’s problems after years of research.
What we did not expect was to be confronted with a rare genetic disease: the KAT6A syndrome. She was the 86th person in the world with that genetic variant. Our world suddenly fell silent, hearts stopped and everything went black. Bitter and sad tears, but Anna tried to comfort us by telling us that she had not cried. The doctors explained what they knew, provided support also why there is no cure or acceptable case history.
An uphill and uncertain path awaited us on the horizon. In the huge list of things to do we did a Google search: we found an in-depth description of Anna’s KAT6A syndrome! Thanks also to @pietrodurando’s suggestion, we also found the “KAT6 foundation” an American foundation that helps people and families of those living with KAT6 disorders. With a click we went from being alone to finding ourselves in a community with our same goals: the search for a cure and the improvement of the living conditions of our children, brothers and sisters!
by Alfredo Cabutto