Saturday, August 29, 2015

Finally some answers

Two years ago at Fisher's four year well visit I had concerns about his speech and was planning on asking for another referral for a speech evaluation. He had been evaluated at three years old by two different speech therapists and both had said he was on the low end of normal and that didn't warrant therapy at that time.  But the pediatrician started asking other questions:

"Can he pedal a bike or a tricycle?"
                "Well no...I think he could he just never seems interested in getting on a bike and trying.  I guess I should push it more.  I am sure he could if he wanted."
"Can he button clothes?"
                 "No - but he doesn't really like clothes with buttons.  I think if he wore jeans routinely he could learn to button them.  And we are a tshirt type of family so we don't really have a lot of button up shirts."
"Can he draw shapes?  Does he like to color?"
               " No - he has no interest in drawing or coloring.  I know we have to work on it to get him prepared for school but he is just 4 we have time."
And on and on.

We left that day with a scheduled evaluation for Occupational Therapy and for Speech Therapy.  From those we found out he had significant  delays in fine and gross motor skills, sensory processing disorder, and speech impairments.  Many friends and family shared experiences of their kids and how fast they improved with therapy.  With a little therapy things were "fixed" and no one could tell the kid ever had delays or problems.  We dutifully took our son to therapy each week expecting that therapy magic.  It didn't happen.    We followed up with his pediatrician and new concerns came to light.  And that started the round robin of specialists and testing.   So many specialists.  So many tests.  Some were normal.  Most were not.  It seemed like each time we tried to chase down one answer five more questions popped up.  Every time we ruled out one potential diagnosis, we were referred to yet another specialist to rule out a new and different one.  This went on for two long years.  The list of Fisher's challenges continued to grow but we had no diagnosis and no real answer to what was going on and what to expect in the future.    This is such a  cruel, hard place for any parent to be.  The importance of early intervention is stressed so often - but if you don't know what "it" is you are working with - how do you intervene, how do you help? And with so many different problems what direction do you focus?  Where is the best place to spend limited time and money?   We spent so many hours wondering, worrying, assuming, researching, questioning, and waiting.  God the waiting.  I came to expect the week before the "big" appointments to be hard emotionally.  And I began to prepare for the freak out I inevitably  had after a doctor or therapist told me about the newest problem or they simply told me that they didn't have answers.  We began to hear over and over again from the specialists and therapists that he was all over the place and didn't fit any common diagnosis.  I grew so tired of hearing that.    According to many of the professionals his problems were either caused by an unusual genetic syndrome or the trauma he suffered at birth.  Some would speculate on which side of that fence they were leaning, some would not.  In my mom heart I always felt his problems were somehow related to the trauma he suffered from birth, but in my scientific mind I understood that I am far from objective on that topic. 

 It became obvious that if we were ever going to get answers they were going to come from Genetics or from Neurology.   I tried to prepare myself for the real possibility that we may never have answers or a diagnosis.  And for me - that is a incredibly hard pill to swallow. I am a data driven, researchaholic.  I draw strength and a feeling of control from numbers and statistics and without any answers and nothing to research I feel lost and vulnerable.
It takes a long time to get into many children's specialists and it also take a long time  to get genetic results back.  As we were awaiting the results of his genetic testing I thought about the impact those results could have for his future and Willow's too.    After a seven month wait the day finally arrived to meet with Vanderbilt Neurology, but I was concerned that the pending genetic results would keep the neurologist from giving us a diagnosis or direction.  So imagine my surprise when the neurologist started our conversation by stating "I see that all of his genetic tests came back normal so that is great news."  I made her repeat it.   That is huge!  And amazing! All the things that I was trying not to worry about rushed into my mind - this means that he doesn't have a syndrome with a young mortality expectation. This means that he doesn't have some obscure disease where he will stop developing at 6 years old.   I felt elated!
Knowing that pertinent information allowed us to get down to business with neurology. We know that several of his issues are a result of his brain not functioning correctly but what is it that is driving these differences?  Ultimately, the neurologist diagnosed him with apraxia and mild cerebral palsy.   She said it was too much of a coincidence to have suffered the trauma he suffered at birth and to have the problems he has.   And then she explained to me that the "good" thing about cerebral palsy is that it is what it is.  Meaning today is as bad as it was yesterday and tomorrow it will be no worse...or better.    What she said matched up with the physiatrist we saw a few weeks ago - Fisher's body has been trying to compensate from the trauma to his brain since he was born and it has been actually remarkable in doing so.  But he has reached the limits of those compensations and that is why we see the delays we see now.  She said he needs the trifecta of physical, occupational, and speech therapies to try to learn new ways to compensate.  He will likely always have physical limitations, with therapy he hopefully can learn to do most anything with accommodations.  She said that if he had plans of being a professional athlete he might be disappointed. Good thing he wants to be a scientist!  
So we finally have "it". We have a diagnosis and a plan.  I know it won't be easy but it isn't different from what we were already doing (he has already been doing all three types of therapies she suggests).   We have a better understanding of what his limitations might be and how we can help him overcome and accommodate for them.  We have a LOT to be thankful for and are taking comfort in the positives.  
And honestly - I knew it. My intuition has been telling me all along so  I am not shocked or surprised at the diagnosis.  I am more aggravated that it took so long to reach this point.    I would have been much more shocked, surprised and caught off guard had he been diagnosed with a genetic disorder.  

 One of my sisters gave me this sign and it has been my mantra the last few months.  It has reminded me that someway, somehow the search for answers would eventually end.  I am pretty excited we are at the end of that search and we get to move on to making everything ok.

So on to the next chapter.  The chapter where we can advocate for him and help him be the best Fisher he can be.  We get to love him, encourage him, and be amazed by him just like we always have been.  He gets to talk too loud about Skylanders for hours, declare nerf gun wars on us, and negotiate his way into getting what he wants just like always.     With wild man as the main character there is no telling how this chapter will end - but it is sure to be an exciting ride!