Pierpont Research

Researchers believe they have discovered the genetic mutation that defines Pierpont Syndrome! I received a call from our geneticist last Wednesday telling me the news. I can not describe the euphoria I felt in those moments. Then Daan's mom Alice posted on Facebook Thursday that she had received a from their geneticist giving them the news, and asking them to donate more DNA. I too have to give more DNA but they do have enough of Sheri's DNA at this time she doesn't have to donate again. None of us know the actual gene(s) involved or the chromosome....and it doesn't matter at this time. No doctors offered, no parent asked because we are needing to give more DNA so we can be tested for this specific defect. So the parents get tested and if they don't have this mutation, meaning it wasn't an inherited defect then they will be certain of their discovery. (This is how I understood the conversation with Dr. Olney.) There are many other details in question and time will sort it all out butI have learned some patience in my 9 years with Makenna. I will present some of my questions in future posts. For now I am just happy to be posting this news!