Resolution

Anyone that has been following this blog for any length of time knows that for thirteen years, our family has been looking for answers.  Our son has had a laundry list of symptoms and characteristics that were loosely grouped together under the diagnoses of Attention Deficit Disorder and Neurological Impairment.  The result of not being able to name why our son was different has left long term impressions on every member of this family.  We have been treating symptoms rather than a condition.

After thirteen years of searching, the technology has finally caught up with us and we have resolution.  We have answers!

Because our primary neurologist has moved to research and mapping the genome in search of  undiagnosed disorders, he is seeing very few patients any more.  Last fall, we were assigned a new Neurology Physicians Assistant.  This winter, while meeting with us, she asked us if we would consider repeating our son's genetic testing that was previously completed when he was a year old.  Her argument was that genetic testing has come so far in the last decade.  She listed the different characteristics that he exhibits and stated that she strongly felt that he had a syndrome of some sort.  If we were willing, she would like to see if research had caught up with us.  After discussing it as a family, we agreed that it couldn't hurt to try.

So, after four months of waiting, the results have come in and we have answers.  And the answers are absolutely, stunningly clear.  His diagnosis fits him like the proverbial glove.  Our son has a gene mutation known as a CHD3- Related Disorder, or Snijders Blok-Campeau Syndrome.  Individuals with this syndrome typically have developmental delays, expressive language differences of unique type (apraxia and dysarthria), macrocephaly (large head size), low muscle tone, joint laxity, and scoliosis.  Our son has every single characteristic of this syndrome, including many of the lesser known, less common characteristics.

Every cell in the human body has two CHD3 genes.  These genes are extremely important to cell function because they are involved in chromatin function within the cells.  It only takes a mutation to one CHD3 gene in one cell to cause major developmental issues in developing fetus.  Our son's particular mutation replaced an "A" with a "G".  The result was a previously unreported mutation of the CHD3 gene.  In other words, he is unique, an original.  But we already knew that. 

So....

What does knowing mean?  Why is it so important to us to be able to put a name to the condition?  Why does it matter?

Knowing changed everything.  And nothing.  The moment the geneticist shared the results with us changed our entire world.  And nothing at all.  I know that doesn't make sense to most of you but to us that paradox is our absolute truth.

For thirteen years, we asked ourselves if we caused our son's differences.  For thirteen years, we questioned every single decision we made because we were operating without an operator's manual.  Our decisions were guesses.  The news was beautiful and devastating.  It brought us peace as it tore at our hearts.  My husband and I have shed a lot of happy tears over the last few days. 

For a very long time, I felt very alone on this journey.  It's the primary reason I started blogging.  I never wanted another parent out there living without answers to feel as if he or she were alone.  Because if someone else is walking your journey, it's not just you.  Someone else out there "gets it".  As I have shared in the past, my husband and I didn't always agree on what to do to help our son make progress.  My husband isn't an educator.  He doesn't speak the language or understand the steps in child development and how they play out.  Unfortunately, I do.  All too well.  And the writing on the wall was very clear to me that without significant interventions, our son was going to quickly, and happily, fall far behind his peers.  So I pushed forward.  Through the arguments that I was looking for something to be wrong with our son.  When he and others told me or implied that our son just needed more time to grow and mature.  When we didn't see eye to eye and struggled with our marriage.  I persisted because I was a mom and I wasn't going to accept less than the very best for my child.  He would learn.  He would develop.  No one was going to give him less than their best.  He deserved it.  So thirteen years later, when the geneticist told me that there was a name for why my son was so beautifully different, I cried.  Truth be told, I sobbed all the way home.  Because I didn't give this to him, I didn't cause it.  My extreme morning sickness through all nine months of my pregnancy didn't deprive him of something or traumatize his formation.  Because those years of feeling so alone were worth it.  Because those years of pushing doctors, pushing therapists, fighting with insurance companies, pushing teachers, educating family members, educating people in his world, mattered.  It wasn't imagined.  It wasn't exaggerated.  It was real.  And no mother ever again has to wait thirteen years for answers if her child has this condition. 

For thirteen years, I think my husband has secretly carried the burden of blame.  My husband is a brilliant man who barely made it through school.  He can look at any problem and quickly, succinctly come up with a simple, direct solution.  He invents and creates adaptations to existing machines to make them better, more efficient.  But he struggled in school.  It wasn't his thing.  The original genetic test that was completed when our son was a year old showed that both my husband and our son had a small duplication on a section of their 17th chromosome.  Because my husband had minor learning issues but none of our son's other "quirks", it was determined that duplication probably wasn't the cause of our son's issues.  But secretly, my husband blamed himself.  When the results were shared this time and it was clear that neither my husband or I had the gene mutation that our son carried, that it was a mutation unique to him and his development, it was like a burden was lifted.  Blame was put aside.  Our son was beautifully and wondrously made for a purpose. 

As our oldest son prepares to graduate, he is planning the next phases of his life.  For two years now, he has been in a rather serious relationship with a lovely young lady that we all love.  When he received the news of our son's diagnosis, one of his first responses was to share the results with his young lady.  Because they both have food allergies and she has some health issues, it was a relief to learn that they had one less thing to worry about in the future if they decide to start a family together. 

The geneticist that we worked with was great.  She made sure our son, my husband, and I all clearly understood the results and what they meant.  She even had our son summarize for her what he had heard her say and what it meant to him.  When asked how he felt about the findings, he responded, "I always wondered why I was different.  Now I know.  But it's okay because I'm nice and a lot of people aren't even nice people."  And then the geneticist cried. 

These findings mean nothing at school changes.  He continues to receive learning support.  We keep pushing him to do his best and work harder.  We keep helping each new team understand him and how he learns best.  We advocate for him and help him learn to advocate for himself.  As he transitions to high school in a year, we start the process of preparing him for greater self-sufficiency.  What that means, is yet to be determined.  There will be future relationship and family implications but we are far from needing to address that yet.  As we have done for thirteen years, we put one foot in front of the other and address each obstacle as it appears.

The name Snijders Blok-Campeau Syndrome, CHD3 Related Disorder, brings resolution.  It brings us a degree of peace.  It changes nothing.  But it changes everything.  One thing it doesn't change is how incredibly blessed we were the day the Lord gave us our son.  He was wanted.  He is needed.  He is unique and beautiful in every way.  I don't tell him often enough how incredibly lucky I am to be his Momma.  God sent him to do beautiful, amazing things.  He changes hearts.  He spreads love.  The world is a better place because he is in it.