Well it’s been a hot minute since I’ve updated you all on Stevie’s life — and all the medical stuff that goes along with that.  This post is about 8 months in the making, and details are starting to get muddled for me.  But I’m fresh off the latest doctor appointment with his neurologist, so now is as good a time as any.  I may need wine to get through this.

DEVELOPMENTAL PED
We got started on this next chapter of doctors by seeing a Developmental Pediatrician last summer.  Some of that info is here if you want a reminder.  They did some cognitive testing, in which the test results have been remarkably difficult to obtain for some reason.

…aaaaand I just added Call the Developmental Pediatrician to my calendar so I can continue to bug them about it.

They also gave us a diagnosis of Intellectually Disabled which is sad to hear, but also no surprise — and really great for insurance purposes. We have a pending prescription for more OT/PT/Speech outside of school, but we are  waiting to be assessed by therapists.  Guessing that will happen sometime in June.

Tick, tock, tick, tock…. the waiting game continues.

The developmental pediatrician also referred us to a neurologist who referred us to a geneticist who referred us to a neurological ophthalmologist… so I’ll give you a quick rundown of where we are with each of those too!  I know, the excitement is palpable here too.

NEUROLOGY
I (wrongly) assumed that the neurologist would be doing an MRI, thus exposing us to a diagnosis and answering all of our questions about Stevie’s brain.  But clearly that was not the case.  She didn’t feel comfortable doing an MRI because Stevie can’t hold still on his own, and they really don’t have much interest in sedating him again.  But she was confident that there is no brain damage and no outward signs of distress there, although she had suspicions of a possible syndrome.

And this is where we started hearing about Noonan’s Syndrome a lot.  Not only from the neurologist, but also from the geneticist that we were referred to.

GENETICS
The geneticist that we saw was fantastic.  She was also fairly certain, after observing Stevie, that he had Noonan’s Syndrome.  But of course, they would run a DNA test to make sure.  Obviously Paul and I started researching Noonan’s on Dr. Google and started kind of preparing ourselves for this diagnosis.  As much as I don’t want him to have any sort of syndrome, just having an answer and a direction to go would be nice.

But guess whaaa-at….? The genetic test came back inconclusive.  Shocker!  He does NOT have Noonan’s Syndrome.  Totally have mixed feelings about that!  He does have a slight variant to one gene, so now Paul and I need to do genetic testing as well, to see if we carry that same variant and if it’s of any concern.

So that’s all still in process, but we are anxious to move forward in any way that we can to help Stevie out.

So, we were pleased when the geneticist started treating Stevie as a Noonan’s kid and made sure we were seeing all the right doctors.  If nothing else, we could get some second opinions and we felt a sense of confidence that she was pointing us in the right direction.  One of the more important referrals we got was to a neurological ophthalmologist.

NEURO-OPHTHALMOLOGY
This doctor was phenomenal. He spent almost 3 hours with us and did a variety of tests on the kid’s eyes.  He was very patient with all the questions about cars and parking and really worked hard to get Stevie through this appointment — no small task!  We were hoping to get some answers about Stevie’s eye rolling and eye fluttering, which his other ophthalmologist (who shall not be named) said were just a “bad habit”.  And which I foolishly chose to believe.  I knew it didn’t seem right, but he was the doc!  And I wanted to accept that answer, instead of pushing for more.  It’s a lot of work to get the appropriate answers you know, and discern if they’re the right answers or if they’re just the answer you want to hear.

And we didn’t exactly get any confirmation of neurological eye issues, but we were told that Stevie had the COMPLETELY WRONG PRESCRIPTION.  AGAIN.  AGAAAAIIIIIN.  

I was of course furious at the news, and it took me a good solid day to wrap my head around it.  I just kept wondering why do these things happen to Stevie??  He can’t communicate his issues and we rely so much on the doctors to get this stuff right.  And I do understand that mistakes happen, but too many mistakes in a row makes you question everything they’ve done up to that point. So I was just feeling mad and frustrated and wanting my kid to catch a break.

And after my tantrum about it, I turned it around into something to be grateful for.  If we hadn’t seen the geneticist when we did, we never would have gotten this second opinion and Stevie could have been wearing the wrong glasses much longer!  Now we do feel confident that this doctor is leading us down the right path. And we’re glad to have all his medical help in one place at CHLA.

So we just got Stevie’s new, new glasses on Friday.  And the N.O. wants him to wear these for a couple months to see how he does.  Then we can start to address the “bad habits” with his eye rolling and fluttering.

And I think that about sums it up.

Any questions??  Hahahaha!

I probably have more than you do!  As usual, we are taking it one day at a time.  I can’t think too far into the future without freezing up in fear and anxiety.  So I often just can’t let myself go there.  The day to day struggles keep me busy anyway and keep me grounded in each slow moment, counting down the clock to bedtime.  Some of the days I’m simply in survival mode and sometimes I live in hope and sometimes I embrace the joy.  That emotional roller coaster and unpredictability of parenthood in general is a real mind mess.  And I know we all experience that to some degree.

I’m not sure that I will ever understand this.  I’m not sure that I will ever truly understand my purpose.  I will surely never completely understand Stevie and the way his mind works.  So all I can do is remember to take the good with the bad and all the in betweens.  Because that is life, isn’t it.  There may not be a grand experience or moment of clarity or anything beyond an ordinary existence where this all makes sense.  There may never be a moment of peace where I have it all figured out.  But knowing that, and knowing that I can never be perfect at it?  That is the best I can hope for.  It will be the only way my mind can rest.

And we should be so lucky to wake up and do it all again tomorrow.  Carry on, babes.

loves,
jaana