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Today's Appointment

The appointment I was dreading actually ended up being positive, as far as the interaction and communication goes.  It was much better than our last appointment when we found out the boys have Dyskeratosis Congenita.

Basically, I just wanted to make sure that the large lymph nodes showing up everywhere weren't the beginning of lymphoma.  He doesn't feel like they are.

Clearly, her body is reacting to a systemic infection of some sort.  She has battled Adenovirus for many years now and because her marrow struggles and she has a chronically low white count and neutrophils, she just can't kick it.  He thinks this is likely the problem. He also thinks this virus could be responsible for the nodules and scarring in her lungs but he wants the pulmonologist to weigh in on that theory.

So, what do we do?  Well, there aren't many options since it's viral.  All we can basically do is continue with plasma transfusions.  For now, the treatments aren't making her feel better but they are keeping her stable.  Stable is better than the alternative.

Shelbie asked what would happen if she went off the IVIG and without a doubt, she would crash hard and fast.  We just have to keep praying that IVIG is enough to maintain her immune system because we would not have many more options should that fail to keep working.  There are already signs that it isn't covering everything.  This is manifested in the fact that she got that crazy eye infection and inflammation two weeks ago.  It is such a rare thing.

We talked about the heart issues and he agreed that we can't really call this congenital or just some anomaly. There is an underlying issue that is common in both kids...all three really.  Again, we come back to the whole Dyskeratosis Congenita theme.  It really is becoming more evident that Shelbie is getting more and more symptoms and the only way to justify this is the Lyonization theory.

Lyonization is where the good X chromosome and the mutated X chromosome she got from me are picking and choosing which  one will function in which cells.  So, that is how she has so many symptoms of the disease yet not exactly the disease.

We also had a long conversation about her bone marrow function and it was decided that we will do a bone marrow biopsy in August on Shelbie because clearly, things are changing for her.

There was easily another hour of information but it gets confusing and I don't feel like doing all that typing...

All in all...I feel relieved that we are back on track.



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