Thursday, September 23, 2010

Update on the last couple of weeks, appointments etc...

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.

Saturday, September 4, 2010

Our poor girl has been sick....

Samantha has been sick for about a week now.  It all started with a fever last Saturday. By Sunday, the Tylenol was not working and only 2 1/2 hours after her last dose she had a fever of over 103. In addition, she was choking each time she tried to drink anything so had started to refuse to drink anything at all. As Val and I know that dehydration is a big concern for kids with metabolic conditions (as in could cause serious consequences), we called her pediatrician's office. The on call doctor agreed that an ER trip would not be a bad idea.

So on Sunday we had our first ever (and I hope last) ER visit. CHOP's ER was nice enough. No real wait to speak of.  Once we were "checked in" we had our own little mini-room, complete with TV/DVD player.  I didn't feel the nurse or the ER doc understood very much about metabolic/mitochondrial issues, but I assume that is common in the medical world. In addition, Samantha is a "hard" stick. So the ER nurse tried three times to get an IV in her and failed each time.  The entire time she was trying, there were three of us (yes, me included) trying to hold still and soothe our hysterical toddler.  Eventually, the IV team was called, and the woman did a great job. However, Sam was still very upset to be held down yet again. After that she was afraid of the bed and thus would cry each time we sat or laid her down in it.  Poor kid.

After her IV fluids were pumped we were allowed to go home as the few tests they ran came back negative (with the exception of her being dehydrated when we got there).  They assumed she had some sort of viral infection.  Since then Samantha has been drinking more, although not as much as I would like. However, she's also been choking more than usual on fluids, which has been scary for us. She has even been choking in her sleep.  We hope this is just a symptom of her sickness this week, and not her new normal.  We suspect a swallow study will be coming up soon.

Val and I try so hard to avoid sickness for Sam as it can be so scary for kids with her issues.  I know that getting sick is inevitable for kids. However, I think going forward the new rule in our house will be that everyone needs to use hand sanitizer when they come to visit us.  It might not help, but it certainly couldn't hurt.  So, if you happen to visit us, please don't be offended by the hand sanitizer sitting out just waiting for you to use it.  It's not you, it's us ;)

As for doctor updates....

Her neurologist is frustrated by the fact that we can't get in to see metabolics until late October. So, he's set up an appointment with another doctor in his unit for this upcoming Tuesday. I believe she is still in training but he promises she knows a lot about mitochondrial disorders and may be of some help to us.  In addition, the neuro thinks she can help us get the genetic tests redone before our late October appointment.  That means poor Samantha will need to be stuck again in the near future.   I suppose it has to be done, but I know she is not going to like it.  Neither will I.

Until next time,