An X-ray and two appointments today (geneticist and surgeon).
The geneticist went well. We have a new one. Our prior one left. I like this new one though. She seems good. We discussed a lot (whole genome testing, reanalyzing her whole exome sequencing, doing genetics on both grandfathers who she inherited genes from and we discussed going to NIHs undiagnosed disease network.
So first off she is going to send Addysons paperwork off to Nih for them to add her to the undiagnosed disease network because while addyson has plenty of diagnosis’s she still doesn’t have one that includes everything. We are aware we may never find the one overarching disorder but Nih is the place to be. We have done other trials with them with great results. autonomic Dysfunction is the closest overarching diagnosis for her and she definitely has autonomic dysfunction but she still has a few outlying issues.
We are submitting to insurance for preauthorization for whole genome sequencing which is better than the whole exome sequencing we have had done and reanalyzed before. However whole genome is new and can be expensive so we will see if we get it authorized. (Fingers crossed).
What is the difference between Exome Sequencing and Whole Genome Sequencing? Whole Genome Sequencing sequences the complete DNA of an organism. … The exome makes up only 1.5% of the whole human genome.
Both of Addysons grandfather are going to submit their dna to try to help with reanalysis since her FMF came from my side and her epilepsy from her dads side yet him and I have no symptoms. Her geneticist is also going to reanalyze the raw data herself. She said many times the labs won’t report on possible findings due to the “can of worms it could open”. She said when she looks at the raw data and looks at how addyson clinically presents it’s easier to make connections. She also said she enjoys seeing the raw data. She said she expects for a few things to show up that may help us
We then had our post surgery follow up. Xray isn’t looking great considering we did a flush this morning 😞
We have to go back to 2x a day flushes but we will take it. It still beats where we were 6 months ago. However surgeon did say she’s complicated and we don’t want to have the bowel issues get ahead of us again. He said that we can’t call her reversal a success yet at this point. He is still concerned about how things are looking. We will continue to monitor. Yes we are doing all we can at this point. This is not dietary it’s true colonic dysmotility.
We reviewed her pectus excavatum and addressed how it’s going to continue to get worse due to her growing. We will continue to monitor.
Beaming with hope 