Skip to main content

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.



Popular posts from this blog

Obscure Sorrows

I sat on the bench like I usually do on Saturday mornings, the organ music was slow and quiet.  I think that's why I like playing there; its just slow and quiet.  I set the pace.  I mostly keep my eye on the music for fear of messing up but I did notice a couple walk in.  I had known them a few years ago, not well, but enough.  Enough to notice each other and say Hi.  I had heard recently that she had breast cancer.  She's likely a good 10 years younger than me.  Her red wig was striking, her eyebrows carefully in place and by all accounts, she made cancer look good.  
I had the strangest feeling I've never had before.  She has no idea, that somehow, I know all about her recent strife with cancer.  I have heard how it struck, how she deals; I know more than a distant acquaintance like me should know.   She is living this complicated, unfair, story that went off in a way she scarcely expected.  For a moment, I felt like I was an extra in her 3rd act; the struggle.  And, I wo…

A Witness

I was expecting just another run of the mill night at the gym last night.  The kind where the 'meat heads' stay at their end of the gym grunting and groaning to sound strong and I would claim a little corner in the room where the Yogi's hang out and Plank, and there I would Spin on a bike for a few miles, do some rowing, a little TRX and finish up with some free weights.

Last night though, I actually decided to do an easier workout and took an inclined walk on the treadmill.  There were no meat heads in far end of the gym.  No one really at the gym at all.  For the longest time, I kept pace with an old guy on a bike behind me.

But then, a man and his son came in.  I knew them.  I knew them well but they don't know just how well I know them.  They have a son who passed away from Cystic Fibrosis a little while ago, he would have been Spencer's age now.  They have a younger son who also has CF.  I knew his wife and mother in law back when my kids were being diagnosed.…


It has been an emotional weekend!  Holy Smokes.  I need a vacation from being sensitive.

It's been months since I have been able to find my homeless friend May.

Monday, I had this overwhelming feeling that she was in trouble and it dawned on me that I should call the apartment where she was last known to be.  They didn't answer.  They didn't answer my call all week!  Finally, yesterday (Friday) they called me back.  I was afraid that they wouldn't give me any information about May since I wasn't family so I lied!  I told them she was my great Aunt.  The manager hummed and hawed and finally gave the phone to a man who wondered what I wanted with her.  After some convincing, he told me that she had been arrested and taken to the State Mental Hospital.

I was so sad!  I immediately called the State Hospital and asked if I could speak to her but of course, they can't tell me if she is there or not...and, I couldn't remember her first, legal name.  She has sever…