Thursday, October 13, 2016

Neurology Updates

Day one has come to a close.  Sam did great at the Neuro Opthalmologist's at the Moran Eye Center.  His eyes are pretty much perfect.  He had to have a ton of tests which surprised me a bit.  One such test was an angiogram to look at all the vessels in his eye.  In Dyskeratosis Congenita, the vessels can just die off and leave parts of the eye without blood flow.  Sam's vessels looked good and no sign of any venous malformations.

So, clearly, his vision loss is not coming from his eyes.  That is great news.  They did note that he has a minor Pannus developing around his cornea.  This is a common eye problem in DC kids.  The epithelial cells can grow over the cornea.  He has a start of that happening but it's minor at this point. We will continue to watch that.

He is having migraines with auras but they aren't typical and last longer than a typical migraine would.  So, there are a few more tests we need to do.  He will have an MRI with contrast to make sure that there are no AVM's in his brain that would cause the vision loss.  We will do the remaining tests back home at our local hospital.  For now, they feel it is a neurological problem and if there are AVM's then that is likely the cause.'s not awesome and of course they don't have good options for prevention or treatment.  We'll wait and see what comes of the MRI.

We had an amazing Resident and the doctor, when we finally saw her, was great as well.  Of course, they hadn't heard of DC before but while Sam was off doing tests, the Resident was reading research articles and quickly became an expert in DC and Opthalmology issues.  I was really impressed.

We also need to do a little more work to determine how to handle the genetic mutation of an eye disease Sam had show up in his mitochondrial testing- Lebers Hereditary Optic Neuropathy.  I didn't think to bring those results so I will fax them down next week and they will look into that more.  His optic nerve looks great so it's obviously not causing any problems for him.

Tomorrow morning, Sam has his bone marrow biopsy so that will be a tough one.

I finally caught up with NIH this morning.  They have requested blood work from me to test my telomere length.  It makes me a little sick because I just don't want to go there.  She said they haven't completed the Exome sequencing yet.  The team was also asking if we would be open to spending at week at the facility in Maryland to meet with each member of the team.  So, it will be interesting to see what comes of that.

I am so sick and worse today.  I am afraid that they won't let me stay with Sam tomorrow since he will be in the transplant unit and sick people aren't allowed to be hanging around unless they consent to letting me wear a mask.  We'll see.  That is not going to be good if I can't be there for him.  It's been years since I've been this sick and I'm a little grouchy about the timing of it all.


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