Wednesday, September 12, 2012


Peyton had a decent night's sleep last night.  She is still a little sleepy this morning.  They kept her an additional night in the hospital last night because she wasn't quite to her base line.  Sleepiness was one of those things that wasn't quite "normal".  She's also been pretty irritable.  She is pretty irritable at the moment, but she just had her foley catheter removed.  I would be irritable too!

All the tests they ran look good.  It doesn't look like there's any kind of infection going on, so that's a good thing.  We'll just keep an eye on how she's behaving today.  If she isn't quite herself, they may want to get neurology to come and take a look at her.  Hopefully, though, we will go home today.

I've mentioned before about some genetics testing being done.  Since we went to Boston, the geneticist up there has been doing a lot of research on Peyton and he had an idea about a possible disorder that involved cataracts, hearing loss and neurodegeneration - all things that Peyton has dealt with.  He had coordinated with our geneticist herea t MUSC to get some testing done.  Some tests won't have results in for a while, but a couple were pretty quick because they were just testing for a couple different levels in the blood.  They were testing copper and ceruloplasmin levels.  It turned out that hers were significantly low.  When I got the results, I emailed them to the doctor in Boston.  He was very intrigued by that.  There are disorders where the copper level is deficient.  However, the ceruloplasmin is usually high if that's the case.  Both were very low.

The geneticist here at MUSC wasn't sure what to make of this at all, but the one in Boston called me about the results.  He said that he'd done research and found there to be a study going on in Germany involving the cataracts, hearing loss, neurodegeneration and the low copper and low ceruloplasmin levels.  The down side is that there is nowhere in the US to test for this.  First off, it was decided that those two levels should be retested.  Those results came in late last night.  They were the same as the first set.  They just wanted to make sure it wasn't a lab error or some other fluke thing.  In addition to testing these levels, they wanted a 24 hour urine sample to check copper there.  Since Peyton was admitted to the hospital, I got on that right away and made sure that they consulted with genetics here to make sure we got that taken care of while she was in-patient.  I cannot even fathom how we would do a 24 hour urine sample at home.  She had to be catheterized for that.  I don't know how long the results will take for that, but it finished around 4pm yesterday and was sent to the lab.

Genetics in Boston is convinced that the results are truly showing her to have these low levels.  He spoke with his colleagues up there and, since copper does play a role in the biological system, and the low levels may account for some of her clinical findings, he thinks further investigation is warranted.  He asked me to find out of it would be possible for him to speak to Peyton's attending (and I) sometime today to discuss this.  The attending here agreed, so we should be speaking to him early this afternoon.  I suppose if he is looking at having further testing done, it is far easier while she is still in the hospital than for us to have to figure out a way to get things done once she's home.  I do not know what kind of testing he is talking about - whether it's just bloodwork or something else.

As for this German research going on, the doctor mentioned to me that this would be the only route to go for testing for this specific disorder.  He is going to look into seeing if they will agree to test her.  That would mean the doctor in Boston would send some of her blood over there.  He already has that.  I don't know what the status of that is.

We won't have a diagnosis of any sort right now and this is just a lead, but it seems like a good one.  We'll see what happens there!  The doctor in Boston does want to speak with her attending here in the hospital today because he wants to do some further testing.  I don't know what all that involves yet.

No news yet on when Peyton will go home.

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