Myonical Bionical

Sooo…. We had a bit of a scare here recently… 

Miss Maddie-Me has been hitting all her milestones just peachy but about a week and a half ago I noticed she would do something odd.  At random moments her arms would stiffen and shoot out into the air or her whole body would stiffen and jerk back.  It just wasn’t “normal” looking behavior and had us concerned enough to try to catch it on video to show to our doctor.  We had our doctor and another doctor look at it and while there was a range of possible diagnoses, the one that kept coming up was “infantile spasms.” 

If you aren’t familiar with the term “infantile spasms,” you might be shocked at just how serious this seemingly innocuous sounding problem really is.  We took to Google and were subsequently terrified at what we might possibly be facing.

Our next step was to get an EEG for Little Miss so we waited for the call from scheduling.  Meanwhile, it was the weekend, and Maddie had an episode that lasted far longer than before and seemed to be having many more than her “usual.”  We made the decision to drive to our nearest children’s hospital ER that had pediatric neurology services.

We arrived to the busy ER about 2.5 hours away and were in a room and seeing the doctor within 30 minutes. Again, we were told we needed an EEG and they could perform one and have a neurologist see us the next morning… so that’s how Miss Maddie’s first hospital stay was written in the books.

Our EEG was in the morning – it was a traumatic experience for all involved - and we nervously awaited the results.  The neurologist came to see us and the first thing he said was “Her EEG was completely NORMAL.”  I think our first words were “Thank GOD!”  Or at least that’s what I said in my head… He went on to then say he wasn’t exactly sure what we are dealing with but that he is pretty sure it wasn’t in the epilepsy family.  Of course since Mads didn’t have any spasms during the procedure its hard to tell exactly what happens but the “hypsarrythmia” in “infantile spasms” would have shown up if she had that.  Our differential diagnoses currently are: Benign Myoclonus of Early Infancy or Sterotypies.  We think the myoclonus description sounds exactly like what she does. 

So what’s the plan of action?  We have to log any events she has and possibly capture more video and return to the neurologist in May.  Depending on how things are at that point, we might have a 24 hour video EEG ordered. If we notice any regression in her developmental milestones or progression in the severity of her episodes we have to call much sooner.

We would appreciate all your thoughts and prayers as we work to figure out exactly what is going on with our precious little girl!