Untangling the Mystery

of

Our Son’s Developmental & Intellectual Disability

Those of you who know me well, know that I’ve lived with an unsolved mystery in my life for the past 11 years.

Thirteen years ago, I gave birth to a precious baby boy.  Everything on paper looked good.  Though he was born with panic-stricken staff at a local hospital by my side, his Apgar’s were great.  We left the hospital together and on-time.  He was cuddly and sweet and brought joy to our family just by his presence.

As his first year came and went we noticed while he met some milestones others didn’t progress on schedule.   We started to notice some motor delay, but nothing too severe… a little bit of low muscle tone and some trouble with learning to crawl and later to walk.  As his second year progressed we noticed more of the same, but he was still our happy little boy who loved cuddles and hugs, who was a fantastic eater, and was starting to say his first words.

At about 23 months we noticed a sudden change in his eating habits – he would gag on multiple types of food and had some trouble swallowing.  At first, it was one or two things and then it got worse and worse.  We also noticed a loss of his language skills.  We were finally sent to a neurologist who ran the usual tests but his findings were inconclusive.  At age 3 our once happy, calm, cuddly little boy had been replaced by someone we didn’t recognize.

As his problems grew, we sought help from medical professionals.  At just before 3 years old, we received his first diagnosis: cerebral palsy.  At 4, his second diagnosis, global delays.  At 5, the next: PDD-NOS (autism spectrum) and sensory processing disorder.  At 6: classic autism.  At 9: moderate cognitive delay/ intellectual disability with a much lower IQ than we originally had thought.  Throughout this time we ushered in a slew of therapists, speech for his lack of speech, occupational for fine motor delay, physical for gross motor delay and later ABA for behaviors.

Still lingering was a little question in the back of my mind.  How did this happen?  I realize that every day more and more children are being diagnosed with autism.  I realize that many mothers and fathers wonder the same question – even agonizing over it.  I analyzed everything and questioned his traumatic birth, me eating tuna fish twice in the first trimester, a flu shot I got in the third.  Did these things cause his autism, developmental issues, and intellectual disability? These are the questions that we ask ourselves that most people are unaware and that there are no answers for.  Did I cause this?  The grief that we mothers carry and feel down in our bones.

And then one day last week something changed.  I got a phone call from a specialist.  We had seen this geneticist at the prompting of another doctor who also had lingering doubts about the absurd number of diagnoses and slew of symptoms our son had.  Six months ago we did see this new doctor who felt strongly she was on to something in regards to our son’s condition but needed testing – extensive testing and some research to come to the right conclusion.  Her first inclination was correct.  Our son did inherit a chromosomal abnormality which has caused the behavioral change, the intellectual disability, the lack of language, and possibly even some things we aren’t fully aware of.  We still aren’t completely aware if there are variants of this problem and how it affects Adam differently from other children and adults who have been written about in research articles.

In the days following this news, my heart has broken for our firstborn.  As I read about how this condition progresses, I see our son and I relive the past.  What once was shrouded in mystery now is brought into the light.  Like a faceless phantom, we can now give a name to this disability which turned our world, and our child’s world upside down.

This news is bittersweet.  While we longed for knowledge and wisdom in how to best help Adam, knowing that I carry a gene that caused these problems in him is hard to hear.  Knowing that we were helpless to help him brings back a flood of feelings which open old wounds.   I still believe it is better to know than to not know, and so I am thankful for this news, and it is my prayer that our son’s struggles might, in turn, help another child and another family which happen to be dealing with this same condition.  Doctors and researchers are still finding more and more causes of intellectual disability and it’s surrounding conditions.  The genetic mutation that Adam has was written about in this article which talks about how this gene affects the brain and development.

We also ask for prayer for our unborn baby.  We now know that this genetic condition has a 50% chance of being passed down to boy babies.  In our case it would be impossible to give it to a girl baby, therefore we have a 25% chance overall.

Would you pray with us that the Lord’s will we be done in Adam’s life and in our unborn child’s life?  We pray that if there is a way for Adam to help others either through research or a further understanding of this condition that God will open these doors.  Our greatest hope is that no matter the outcome of these things, that God will be glorified through it all.  We appreciate your prayers.