Meeting Dr. Pierpont

Have been meaning to write this for some time and now may seem anti-climatic after the research news, I don't mean for it too. Sheri, Makenna and I went to Minneapolis, MN. in late August 2012 for an appointment at Shriner's Hospital about Makenna's scoliosis. More about that in the future. Abby's mom Michelle was instrumental in getting an appointment to see Dr. Mary Ella Pierpont. And Michelle and husband Pete are excellent hosts and Thank You! Meeting Dr. Pierpont was much better than I thought it would be. What a wonderful person who does indeed have an interest in kiddos and families involved in her namesakes syndrome. I don't want that to sound rude but after 8years of no contact with her, and very little in the way of news from her filtering through our genetics team I had no real expectations from this appointment other than, "hi, nice to meet you". I was wrong. She showed a level of involvement I didn't expect. And rekindled my fire in seeking info about Pierpont Syndrome or even discussing Makenna's syndrome. Dr. Pierpont shared that her first patient "the Minnesota Boy", since I have never had contact with the family I don't know his name nor have permission to use it if I knew it, was having a whole genome sequencing test at that time. I don't know where that test was being performed or if the results of that led to the call from our geneticist about the discovery? Anyway, she went on to explain, "with results from this perhaps there will come a time when it would be beneficial to get a group of experts together and families of kids in question and do lab draws there for DNA testing and share information..." And that was the part that excited me. She didn't say it like that is standard operating procedure in these matters, but more like she too looked forward to that day! We are getting closer to that dream! So if you ever see my house listed for sell here you will know it is to help fund this dream....Offer me more money than it is worth.

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!