Bridge the Gap – SYNGAP – Education and Research Foundation

July 2018 Family Spotlight:  “Big J’s Journey”

July 9, 2018, By Colby Blakesley

John was quiet in the womb.  Induced birth due to a pregnancy condition making John possible to die any time after 37 weeks, he was already 39 weeks.  John had a quiet cry, he didn’t fuss, healthy weight, and loved being cuddled.  He was content.  So content that he didn’t ever cry, didn’t try to eat, didn’t poop or pee just slept.  After a couple of worrisome days, he was proven to have lost weight at his follow up an appointment.  We had to force feed him a bottle to get him back up to standards.  You could literally hear it hitting his stomach.  John started to live after that, he smiled and laughed a lot, loved his baths and cuddles.

Along with the failure to thrive, John experienced global delays. His pediatrician at that time said not to worry and every child grows at their own pace, family member and friends also comforted our worries, but we still felt like something was off. John couldn’t operate his muscles like a typical child.  We have to teach him every aspect of how to move and thought process, things that come naturally to typical children.  His coordination was not normal. John couldn’t hold his head up until he was 4 months old.  At 6 months he finally rolled over, at 13 months he sat up for the first time, and at 15 months John brought tears to our eyes when he crawled for the first time.  A month before John’s second birthday he hit a milestone that at one point we weren’t sure we would ever see – John walked. Those first steps ignited the wildfire of hope that has become our compass through this battle against disability.

Lacking motor skills wasn’t John’s only hardship.  John has Sensory Processing Disorder.  He would overstuff his mouth when eating or chug multiple drinks, he would mush his food instead of chew, he couldn’t recognize temperatures of hot or cold, he had a very high pain threshold so when he hit his head he wouldn’t even whine. John’s comprehension was very limited, you could call his name but he wouldn’t look.  He didn’t know any commands and didn’t understand fear.  He was regressing in some areas which we had to reteach. John started to babble and make some noise but then stopped.  At age 3, he has yet to say his first word.

Through all these trials, John remained the happiest little boy we knew.  He had a very strong love for water and music. He also loves motion; riding on tractors, the lawn mower, side by sides, stroller rides, etc. John was a content, happy, cuddly little boy.  Then he turned 2.  John started to have meltdowns and became aggressive.  He would be happy and content and then suddenly throw this toy or drink and scream, plugging his ears, and try to bite you.  He would use your hand and show you what he wanted and when you grabbed it, he would shove it away and point to it again.  We were constantly confused.  He would terrorize the house since he didn’t play with toys or watch TV. He would empty all the drawers and spread them across the house. His body never slowed down.  Even at night, John is still restless.  John started to have a tough time falling and staying asleep, waking up for hours some nights.

We contacted our local school and started PT and OT when john was 11 months old.  The therapist then pointed us in the direction to a specialty hospital for further investigation of John’s condition.  There, they looked into cardiovascular functioning, did an MRI, assessed his metabolic functioning, and put orthopedic braces on his feet; which he still wears.  After almost a year of no answers, we decided to go to the Mayo Clinic.  They ran an EMG (Muscle Test) and then ran a genetic test.  At age 2 ½ John had been diagnosed with Mutation Syngap1.  The doctors had nothing to tell us.  They didn’t know anything about it, except that it is very rare.  We thought we would finally get answers and have some kind of guidance to helping John but instead, they gave us a diagnosis with no history.  We felt happy to have reasoning behind his symptoms but still no help or answers. There was no guidance, and no expectations of what could come next.  After doing our own research we found the Bridge the Gap Foundation which consisted of less than 100 other families around the world with children like John.  They provide us with hope, confidence and advice. We would truly be lost without the other Syngap families around the world with experience and going through the same thing we are.

Now, John is 3 but mentally, emotionally, and physically he is at a 1 year old level.  John continues to improve.  As of now, he is still nonverbal but we are starting to teach him communication through an AAC Device. He can understand more then he can express.  John also has seizures, intellectual disability, autism, hypotonia, sleeping problems, Sensory Processing Disorder, Apraxia (nonverbal), Aggression, Anxiety, constipation, and he absolutely loves Mickey Mouse Clubhouse.  He mainly likes me his mother but is learning to except other people into his life. He is very grabby, needy, and is learning slowly to except denials. John recognizes places by specific objects. He loves water and musical instruments.  John has no fear, he will climb super high without even a thought of what happens next.  He adores his little sister who is 2 years younger then him.  He has learned so much from her and sadly takes his anger out of her at times, but she handles it very well. John is always sensory seeking.  He enjoys going for walks and sliding down slides on his belly.

Anything can go wrong with John’s body and we have to try and catch it to help him since he cannot point yet or indicate somethings wrong, just through his behavior and mood.  He will have a long, tough road ahead of him filled with lots of everyday therapy and countless doctors’ appointments. We didn’t imagine the life we live, nor do we ever wish another child or family to go through this.  As parents, we feel helpless and guilty.  Our biggest fear is ‘What kind of care will John get when we are not able to care for his needs anymore?’ We take it one day at a time and sometimes one hour at a time knowing that this too shall pass.  As his parent, I know that with persistence and resilience, we can give John the life he deserves.

 

 

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