Another Week, Another Children’s Hospital Visit
Because of out little one condition, it seems we visit a doctor at least once a week. On top of this, there are the 4-5 visits every week from some type of therapist(occupational, physical, vision, etc). Today, was a visit to the local Children’s Hospital, where her neurologist is located. Her case was presented this morning to an audience of specialists. Since her condition has not been diagnosed yet, it seemed a good thing to do.
Everything went well. There was a PowerPoint slide done on her symptoms, what test have been performed on her, as well as what conditions have not been ruled out. It was good to get opinions from fresh minds. Overall, they confirmed what her neurologist seemed to think, but did give some other points to look at. Of course this meant more blood tests, which was performed later. Poor thing had to provide nearly 26CCs of plasma.
For anyone taking notes out there, they believe she has a disorder called Pontocerebellar hypoplasia Type II. This is a very rare disorder, with the only a handful of known cases in the US. Unfortunately, there is no difinitive test available for diagnosis, only clinical research.
So, this is where we stand right now. Just sitting and waiting for more test results. Seems like all we have been doing the past 2 years.
Filed under: Kids
