Yesterday was A’s greatly anticipated and much dreaded follow-up appointment with his pediatrician to review his metabolic lab work.  Praise God, we finally made headway–just barely!   Because of the non-chalant, seemingly unconcerned attitude the doc has previously shown, S decided to accompany me on this visit–in full Lt. Col. uniform.  There isn’t a cocky, “better-than-though” bone in S’s body, but we have found the uniform with rank insignia can sometimes help garner a bit more respect and attention. 

When we first arrived, A was in another of his zombie-like states, just sitting there, with no expression on his face.  The doc walked in, gave us a copy of all his labs, and over about 6 pages containing about 50 different test results, we immediately noticed that a significant number of the results had “H” written beside them (for too-high levels).  Within moments, however, we realized we weren’t going to get far as the doc began explaining away and justifying every abnormal result with excuses like “not high enough.”  Once, he made the comment that he wasn’t concerned until the values were 2-3 times higher the normal.  S flipped through the pages, and found at least 3 values that met that criteria, being at least twice as high as normal, and said “What about these?”  The doc tried to explain them away as well.  We were both getting increasingly frustrated. 

After the labs were discussed, the doc started going through “concerns” that the results might be indicative of.  He mentioned cystic fibrosis as a common condition displaying some of those results, but A didn’t have any of those physical symptoms.  He then mentioned 2 other diseases, neither of which A had symptoms for.  Finally, and I appreciated his humility, he admitted the problem….”A just isn’t fitting into any of my ‘little boxes.’ You’re right, the labs show something is going on, but they aren’t consistent with standard conditions.  I just don’t know.” 

We talked a little more.  He was more understanding throughout the remaining visit, but we still hadn’t completely convinced him we needed a referral.  Then, just as he was preparing to excuse us, I had a thought pop into my head.  I had totally forgotten about a new symptom A had begun showing, and had meant to ask about it.  I call it divine intervention for putting the thought in my head at the last moment.  In any case, I said “Oh, by the way, I meant to ask….in the last few weeks A has developed an increasingly frequent “tic” of sorts, squeezing his eyes shut.  Should I be concerned at all?”  The doc literally sat up, looked at me, and said, “Wait a minute!  Does he stare off into space?  Does it take you a minute to bring his focus around?  When does he do this?” and an assortment of other questions.  By the time he finished asking, S and I both looked at each other, knowing exactly where this was going.  And we were both shocked that the idea had not occurred to either of us, after our experience with JR.

The doc finally said it,”It sounds like he’s having absence seizures.”  Also known as “petit mal seizures”, these are little tiny seizures in the brain that can cause all the cognitive symptoms A has been having, to include his regression in cognitive thinking as the seizures get worse. 

Let me just be clear here.  We don’t KNOW he is having these seizures.  They can be very difficult to identify based on behavior alone.  But it was something that gave us a direction to go in.  The doc immediately referred us, first, to a neurologist who focuses on that area, then to Early Intervention for a complete developmental work-up.  Once those are completed, we will be getting another lab panel done with more emphasis on hormones and endocrine function, at which time we will follow up with a pediatric endocrinologist to make sure his hormone functions are working correctly, and because his several of his amino acid levels were way off in the metabolic profile. 

So, we still don’t know much more than we did.  But we have direction, and we have been referred to specialists who will be able to direct us better.  For that, we are grateful!  Now, things get busy, though.  Since the doc is finally on the same page as we are, he wants these appointments completed as soon as possible.  He is going TDY (military business trip) for a month, and he is hoping both the neurologist and EI appointments are done by the time he returns.  Of course, it’s Christmas, so that will slow us down some, but we’ll certainly try to get it done.  Thankfully, we seem to have a hired a wonderful lady to help us out twice a week, both around the house and with childcare.  She has truly been a blessing to me, with all she helps accomplish, lessening my burden tremendously.  We also have a dear friend who has offered to babysit whenever we need it.  So, depending on when these appointments get scheduled, it looks as though our other children will be taken care of.  As difficult and overwhelming as medical issues and appointments can be–especially when we are already so busy with life in general–it is always reassuring to see that God provides exactly what you need, when you need it, to ensure our entire family is provided for.

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