This is a project that will follow families with children who have extremely rare conditions and how it affects their lives. It is a project inspired by our own journey to find a diagnosis for Olivia. In December of 2019, sitting in the genetic counselor's office for the umpteenth time we heard the first hopeful words 'we have it narrowed down to 20 genes, all closely related' and in January 2020 we had out a diagnosis - Pitt Hopkins Syndrome. It is a very rare mutation on a gene in the 18th chromosome that we are still learning about. Those words from our meeting in December stuck with me though.... and I knew that there were many more families who waited to hear similar words. Thus the 20Gene Project begins its development.
Then came COVID -19. Out of an abundance of caution for fragile immune systems and logistic problems with my own child at home - I decided to put it on hold until it is safe again. In the meantime - I'm grant hunting and planning details in depth to jump in as soon as we can.
As of February 28th, 2022, the 20Gene Project is Alive again. The form that is here is open for families to join or for those the be nominated. Know that, although we love our friends with Autism and CP and Down Syndrome, I will not be exploring those stories at this time. They have a large footprint in awareness. The stories that need to be told are those that our doctors even need to go do reserch on becuase they have never come accross it.
Continue to be RareAF and follow the blog to stay up to date with the 20Genes Project. I am so excited to finally be able to share these stories.