I know you guys are all sick about hearing about my missions. Honestly, I'm kind of sick about hearing about them too, but this is my life. I have always been open and honest on this blog, and to my faithful readers I plan on keeping you guys updated.
After I received the news that the exome test was cancelled and I got over a little of the anger, I started thinking about what my next move was going to be. I decided to contact the research study (at the University of Washington) that I put Sadie in in regards to her brain malformation. If you remember correctly they are the ones that diagnosed Sadie with Pontine Tegmental Cap Dysplasia (PTCD). I asked them if it was possible for her to have both the PCH and the PTCD? Her reply was this "the diagnosis of PTCD does replace the PCH, it is more specific". So in other words PCH is sort of like an umbrella and PTCD falls underneath that umbrella as one of the sharp little points. And since there is a lot of unknown about PTCD, the diagnosis can not be proven with a blood test yet, hence that is what the research study is looking for.
So, I guess that settles that. I will go with it. I still wish I had hardcore evidence that she does not have PCH and has the PTCD. I think without the hardcore evidence I will always wonder in the back of my mind. But I am driving myself crazy with all of this, and I need to stop obsessing over this. You are probably wondering why I am obsessing so much, as it is just a title. This is why I am obsessing... The 2 diagnoses have similar characteristics, but at the same time, very different (such as a cold/cough versus RSV). They have different reasons for the gene mutation, they have different outcomes for the children, the possibilities of having affected future siblings are different. It's just something that I really want to know. But until I find a really good Dr that is extremely convincing to the insurance company to run certain tests or until they find the actual gene for the PTCD, I am going to drop this subject and just say that she has PTCD.
Now I just have to have all of her Dr's change her PCH diagnosis to PTCD. Just one more thing to add to my to do list.
After I received the news that the exome test was cancelled and I got over a little of the anger, I started thinking about what my next move was going to be. I decided to contact the research study (at the University of Washington) that I put Sadie in in regards to her brain malformation. If you remember correctly they are the ones that diagnosed Sadie with Pontine Tegmental Cap Dysplasia (PTCD). I asked them if it was possible for her to have both the PCH and the PTCD? Her reply was this "the diagnosis of PTCD does replace the PCH, it is more specific". So in other words PCH is sort of like an umbrella and PTCD falls underneath that umbrella as one of the sharp little points. And since there is a lot of unknown about PTCD, the diagnosis can not be proven with a blood test yet, hence that is what the research study is looking for.
So, I guess that settles that. I will go with it. I still wish I had hardcore evidence that she does not have PCH and has the PTCD. I think without the hardcore evidence I will always wonder in the back of my mind. But I am driving myself crazy with all of this, and I need to stop obsessing over this. You are probably wondering why I am obsessing so much, as it is just a title. This is why I am obsessing... The 2 diagnoses have similar characteristics, but at the same time, very different (such as a cold/cough versus RSV). They have different reasons for the gene mutation, they have different outcomes for the children, the possibilities of having affected future siblings are different. It's just something that I really want to know. But until I find a really good Dr that is extremely convincing to the insurance company to run certain tests or until they find the actual gene for the PTCD, I am going to drop this subject and just say that she has PTCD.
Now I just have to have all of her Dr's change her PCH diagnosis to PTCD. Just one more thing to add to my to do list.
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