Answers. Finally.

Email Subject Line:  We have found a genetic cause of Cate’s autism.

Scottie was about 6 months old when we began to think that something was off.  She was developing differently than the first two…slower.  We began asking questions and seeking answers - pediatrician appointments, neurology waitlist, developmental pediatrician waitlist, Early Childhood Intervention assessments, researching online, and seeking books.  Tests were run.  Evaluations completed.  For 9 years we were told that she had Expressive/Receptive Language Disorder, Intellectual Disability (although the actual IQ number continues to be up for debate), and a label of encephalopathy.  Something is different, global delays exist, but there seems to be NO real medical/genetic reason.

We held onto our Scottie mantra:  Accept reality but hope for the best.

As parents, we wanted a reason.  Believing a reason would help us to understand the why and provide us with ways to help her.  We desired a reason and a clear understanding of her differences so that we could find other people who were experiencing the same thing as us.  We wanted guidance.  I wanted to walk into the bookstore and find a story about another child just like Scottie.  

At age nine, a psychologist (finally) diagnosed her with PDD-NOS, which means she landed on the Autism Spectrum.  We now had a concrete diagnosis and it was one that we understood.  The numbers of those diagnosed with autism were increasing, which meant resources were beginning to become readily available.  Sitting on the floor at a bookstore, I flipped through several books about autism - explanations, therapies, treatments, and stories of those who were raising children on the spectrum.  I saw glimpses of our Scottie, but there was not one book or story that truly represented Scottie.  

When Scottie was 14, we went to see a new neurologist.  Her OCD and anxiety were beginning to impact her life and the lives of those who lived with her.  Help us Jesus!  During that visit, we were describing all of the different parts of Scottie.  At one point the doctor looked at us and said that we need to put aside her autism diagnosis for a moment and look at the other parts because it is entirely possible that there are other underlying issues.  MRI and more genetic testing and guess what?  Nothing.  Everything comes back “normal.”  No answers.

Someone told Scott about a research foundation that was actively seeking participants.  The child on the spectrum, both parents, and a sibling needed to submit a sample for genetic testing.  They were looking for commonalities among those on the spectrum.  Was there a genetic component?  Gathering data.  We submitted our samples knowing that at the end of the day, they would tell us if something was found and if there were any medical trials for her.  We had nothing to lose.

Over a year and half later, Scott receives an email. The subject line was a little shocking.  They found something.

Scottie has a mutation of one gene - CHD2.  Very little is known about those with this same mutation.  There are only 32 people identified - 32 in the entire world!  The first reported case was in 2012 - 8 years ago!  Many of those with this same mutation are on the spectrum, have intellectual disability, and some have seizures (Scottie does not).  It is not hereditary; we are not carriers.  

16 years of wanting an answer and we now have it.  Relief.  Peace.  Knowing.  Hope for more information to come.  Awe in the advances in science.  There were no answers when she was 12 months old, 3 years old, or when she was 9 because they did not know about this gene mutation.  

Our girl is literally almost one of a kind.  

A few weeks ago, I stood with a small group of friends and I shared what we learned.  They listened to me, but when I got back into my car to go home, I realized they have no idea how long we have waited and wanted an answer.  They don’t know because they were not part of that early story.  Answers for us and the feelings those answers produce in us are not universal feelings.  These answers are part of Scottie’s story and our family’s story. These answers are personal to us and even if others don’t fully understand, it is fine.  It really is fine because it is not about them.  It is all about Scottie.

I wonder how many of us pray and pray for an answer.  We wait so long and when the answers finally come we look around and realize that this prayer was the pleading of our own hearts and not the same for those who know us. The desire for answers is about our relationship with Jesus.  Trusting God to provide.  Trusting God to sustain.  Trusting God’s sovereignty.  Trusting God’s faithfulness.  Trusting God’s love for our child, our family.  The wait produced trust in us.  Whether others truly understand the relief we feel when God gives us answers is really not the point.  The point is that we are able to look back and see God’s hand on all of it.  

Answers.  We have an answer.  We wait with anticipation as we discover more and more about our Scottie.  We are just so thankful to have an answer.  Placing Scottie in God’s hands and trusting Him with all of her and praising the Creator who made her exactly who she is and the ways in which our lives are positively impacted because of her life.  Answers.  We have an answer.