Samantha has been feeling better in general since her sickness a few weeks ago. It did take at least a couple of weeks for her swallowing issues to go back to baseline. We had a neuro appointment at CHOP with a young neurologist there a little over two weeks ago. She was very nice and in general just talked with us about our questions regarding mitochondrial disorders. She didn't necessarily answer all of our questions--but it seems that in the mito world, there are a lot of unknowns in terms of the future. We did draw for 4 genetic tests that day. Hopefully, the results will show "something" so that we won't have to proceed with a muscle biopsy. It was her belief that if the genetic tests did not show anything the next logical step would be the muscle biopsy. When we discussed that we would be going to see Dr. Cohen in November and wanted his input before proceeding, she felt pretty strongly that he would also agree that a muscle biopsy would be the next step.
Val and I aren't 100% sure yet that we are comfortable with doing the biopsy, and we look forward to asking a lot of questions in November at the Cleveland Clinic.
Speaking of Cleveland, our insurance approved going out of network for an office visit. I was prepared for a bit of a back and forth. However, after reading the letter of medical necessity our neurologist (also signed off on by her pediatrician) wrote, the medical director at the insurance co approved it. Thank goodness for small miracles. In addition to the Dr. Cohen appointment, we also have an appointment in late October with a doctor in CHOPs metabolic team.
On the recommendation of the new neurologist, Samantha had an evaluation at CHOP's feeding/swallowing clinic to discuss her swallowing issues yesterday. As Samantha seems well right now, they didn't feel a swallow study would be helpful. Val and I assume she'll need one at some point, so why radiate her more than once just to show she's swallowing ok right now? They also gave us some suggestions for thickening her liquids if necessary if she gets sick again. The MD of the team did discuss that Sam's hiccups (she hiccups often) may be a sign of reflux so recommended she start on a reflux medication. He doesn't feel reflux would be the only reason she would be choking on liquids (given her other issues). However, he felt it might be contributing and feels it may be worth a shot. He also felt that as she's not regular she should begin a Miralax type drug to help her go more frequently. As the appointment was yesterday, Val and I are still processing on the medication issue right now. We tend to be very cautious with giving meds in general. So we aren't sure we are ready to start two new meds for issues that may or may not be contributing to anything "serious". It was a surprising turn of events during the eval, as we assumed we would be discussing only the swallowing issue. I suppose it's a good thing that the "team" likes to evaluate "the whole child".
As for Samantha, the little lady is doing very well. Unfortunately she's developing a fear of medical settings, but we are trying our best to keep that at a minimum. Other than not liking doctors' appointments, she's been her happy, sweet self. We are very happy about that.