Please know obviously Peyton's the first priority, but we do have to get moved!!
So, today Peyton pretty much slept all day long. With the exception of about 15 minutes, up until about 5pm, she slept. This is so not normal for her. The one new thing that had changed was the addition of a new pain killer - neurontin - in place of oxycodone. It's a medication that you have to start out at a lower dose and work your way up to the therapeutic dose. She started at the normal starting dose. The doctors talked to neurology and to pharmacy about this and they think that this starting dose must have been too much for Peyton. They cut her off and will let her get through the night tonight without it. She can have oxycodone for pain though. Tomorrow, with a clean slate, they will try a lower dose of neurontin, but they will do it in the evening, which means another night here.
I did speak with the geneticist in Boston today. He spoke with her attending here prior to that. He said that this low copper - or, in her case, an almost total lack of copper can be related to lots of different connective tissue disorders as well as mitochondrial dysfunction. With some disorders it is possible for the optic, heart, and/or brain vessels to become twisted. His suggestion is to do an MRI/MRA. You know what an MRI is, but if you're like me, then you just googled MRA - it's Magnetic Resonance Angiogram. Basically a cardiac MRI. This will have to be done under sedation. This will be something that happens after Peyton's out of the hospital.
Also, he would like her to have an ultrasound of her bladder. Apparently with these disorders, the bladder can enlarge and form pouches called diverticula. Urine will collect in these pouches. He wants to make sure she doesn't have this going on. She recently had an abdominal ultrasound (last week), so the doctors here are going to see if they have enough information to go on from that rather than put her through another test.
The geneticist in Boston has consulted with another specialist up there regarding her low copper. At some point she will need to be treated for this. Unfortunately, it isn't as simple as taking a supplement like you would an iron supplement. Based on their discussion, what she would need would be a specially prepared copper supplement. He does want the other investigative studies done first though. This means getting her through the MRI/MRA, a possible ultrasound, and getting results back on genetics testing that is already in progress. Not the German study...he has other testing in progress right now. Once we get through that, Peyton will need to be seen in clinic by this other specialist - at Children's Hospital Boston. Yes, this will mean another trip up there. He is thinking early spring 2013. Perhaps we can coordinate it with Moira's spring break.
At any rate, they will have all the results from all this testing being done. I think from that they will be able to figure out how to formulate this supplement. I don't know how it is administered - through her g-tube or if it's an injection?? I don't know. I just know that we have another big trip ahead of us and treatment sounds expensive!!! We will see how this all plays out. I'm so excited to have so much going on in the genetics arena right now. We don't have an answer in terms of a diagnosis, but we now know about this copper/ceruloplasmin issue. If it weren't for our trip to Boston, we might never have known this. I feel like we've backed out of that dead end street and are at least heading in a new direction now.
Peyton has been having more focal seizures since she's been in the hospital. These are little "staring" seizures. They are non-convulsive and they last only a few seconds. Since Monday she's been having these several times a day and they've been lasting longer - closer to a minute. It's been noticed by several people. Her seizure meds were increased on Monday. Again, non-convulsive - she hasn't had one of the convulsive types in a few years.
I'll definitely be keeping you updated on all that is going on. Hopefully Peyton gets home Friday!