Neuromuscular specialist and cardiologist

I was dreading this trip to pcmc.  As we've watched the boys condition worsen and have only AEDs for treatment... that though they help tremendously, that help is VERY temporary, about 6-12 months... we've felt strongly that we shouldn't be waiting for testing to "get better," but rather press forward with testing anyway.  I see Aidan and Jace, as this whatever disorder progresses, and all I want is to know what we are fighting so I can stop punching in the dark- I've expressed this before.  Each regression intensifies this for us.

Snow was forecast, so we knew we'd need extra time, but ended up not leaving as early as we'd planned.  Not even to IF yet and the boys started asking, "Are we there yet?"  And Damon and Jace fighting so much we wish we could put a wall between them...  Then I got some messages from friends that the roads in UT were really dangerous and to be careful.  That trip there truly felt like it would never end! Like we were in some twilight zone of never ending road misery. lol Every route we tried to get to the hospital was grid locked.  Bumper to bumper, inching along at under 10 miles an hour or just stopped.  Ended up an hour late.  Normally we'd have had to just forget it and reschedule, they only allow 15mins for travel mistakes.  But because the hwy had basically shut down, they promised they'd work us in.  Which became funny when we got there-  Our appt was for 10am, and we were only the second family the neuromuscular specialist saw that morning.  And as stressful as all this was, it became a blessing.

(A side note- we were in such a hurry to get in there, we left a car door wide open.  It was left open for 4hrs before we discovered it.  So grateful nothing was stolen! A miracle in itself!)

So back to the neuromuscular appt.  First, I felt strangely familiar with him.  I've never met him before this.  And he was like the neuro we normally go to, in that he was not confused by the boys' loud behavior. He had read about the boys before the appt- enormously helpful because he already had questions in mind.  Because there was hardly any neuro patients there that morning, he was able to really take time with us.

But he wants some time to research and ask other specialists before testing more.  He had several testing routes in mind- testing at the center in WA that would require an extended stay for the whole family, or forming a new group right at pcmc for such an endeavor, or doing the spinal tap on Jace that had been done on Aidan, or doing EMT (?) testing, or going ahead with the big new one that isn't perfected yet, or doing panel testing... there was more, I just can't remember it all.

He said that he is even more convinced the neuro and metabolicist are on track with it being either a neurotransmitter disorder or channelopathy. Two things really stood out for him with this.  The fact that temperature and activity/concentration level effects them so intensely.  But he added, that he's seen a few cases where there was more than one between siblings so we need to be careful to test all of them.

He also reassured me that it's really not out of the ordinary for AEDs to lose their effectiveness and need to be increased and added on as children grow.  I knew this in my own understanding of how our bodies change as we develop and grow, but we've experienced so much arguing regarding it that it's really added stress I don't need.

Gave me lots of homework. Videos to capture, charting of the endless episodes and seizures... it's going to be interesting.

I'm sure I've forgotten some stuff and will add later if I remember.

Then the cardiologist.  She had checked all our boys info before the appt too.  I was shocked, two in a row! lol I'm serious, it's been a really frustrating thing for me to not have drs on the same page and feel like I have to reprove things that have already been proved several times over.  I'm okay with explaining things again, to a certain extent.  As time goes on, the details of memories fade, so I need to be warned so I can have access to my journal if one is expecting me to keep info straight... I have 3 boys with endless/countless seizures and episodes going on for years now.  How am I supposed to remember details of a seizure that happened 6 months ago, let alone 3 yrs ago? lol

Anyway, they did another ekg first thing.  It was normal from a channelopathy standpoint, but there were two things about it that were abnormal.  Incidentally the neuro had said it did not surprise him at all that Aidan was having heart trouble.  It's typical of these disorders for organs to become part of it all.  There were "squiggly lines" where they shouldn't be and the beginning of the beats dropped way down first instead of going up like they should.  Haha, how's that for technical terms?

So she ordered an echo and we stayed.  He got overheated during the echo, but fortunately what was expected of him wasn't anything difficult when he's overheated and they were able to finish fine.  We got him cooled down and moved on.  The echo results were fine.  Grateful for this as well.
Another blessing- my brother was able to come see us while were there and he showed up during the appt.  She was able to get some information clarified about his conditions and this was really helpful.
I ached to spend more time with him and just relax.

We left with a really long stressful trip back only because of the road conditions and seeing slide offs every several yards for miles.  It was really unnerving, because the thought of being stuck and stranded with our boys needs is just absolutely awful.  But we made it safe and even drove on a dry Malad Pass.  

But we also left with a renewed feeling that these doctors will not just keep our boys hanging.  That they will figure this out and help us help them.  And that we can work our differences with them out because they do actually care about the boys.  That makes all the difference.

I still need to add the info about the other appts we had before this trip... another day.