Our sweet Justin, we thought we’d call him JJ, came into the world after a preeclampsia pregnancy and difficult days long labour with subsequent c-section. He was in NICU with low oxygen and inability to feed properly with low Apgar scores. He fought and came home after only a week. Life with a baby began, the usual blur of feeding, diapers, laundry etc. Lots of laundry as he began to vomit a lot! I went to work and his nursery was only a staircase away so I was able to observe him alongside others his age and his cousin was born the day before. After 3 months he was not thriving and developing as they all were…thus began our journey. He fell off the growth chart and the vomiting continued with more medical symptoms arising that had doctors stumped and performing all sorts of tests. His breathing was asthmatic like and had apnea type episodes sleeping and awake. He was staring off with an inability to snap him to attention. He was still sweet, a good sleeper and happy just not hitting his milestones. No prognosis in those years, just doctors keeping tabs on what medically was showing up. He developed a habit we called flirting where he tipped his head when looking at people and objects. This was our first diagnosis at last, strabismus. Patch on the eye that was strong and the weak one became a bit stronger, enough that surgery was off the table. Finally he was walking about 21 months after commando crawling and struggling to sit up or stand on his own but doctors still were unsure as to why. MRI normal but for a small CP like lesion maybe that was the motor skills deficits, bloodwork normal, CF and asthma negative. So we began preschool and early intervention with just global delay and seizure disorder which those years was enough for funding and programs. This began the stage of progress for him little by little trying to gain skills, confidence and self determination to be just like his peers and cousins. Though It’s so long ago it also feels like yesterday in my mind remembering his accomplishments and the beaming, proud smile that came with every achievement he set his mind on or that we his parents and therapists asked of him. Yet also remembering the hard work, worry and setbacks along the way too. Nothing was easy and we knew he was still behind but encouraged, supported and tried not to limit his possibilities. Lucky his friend circle grade 2-12 was of the same mind set, pushing him to keep up and do all that they did without going east on him in sports or schoolwork. He did receive some one-on-one and outside class instruction to individualize where needed and was still behind but he loved school and sports so much he was in the best mindset to keep improving. He did stall a bit in grade 5 when there was more reading, kept losing track of his place plus he was really turning his head to see properly. It was time for the strabismus surgery and he wanted to go back to class 2 days later which made us wonder if it shouldn’t have happened sooner. Hindsight 20/20 right? 2015…a graduate has never been cheered for like him!!! A child we thought would never read, write, speak clearly or maybe even walk at one point, he was proving there was no limits…until there was. Adulthood has been a lot of ups and downs as he struggles with moving into the job force, stuck with the familiarity of school so had volunteered 7 years at basketball because that was his strength despite his 5’6” stature. He also thrived in special Olympics going to nationals but feels he wants more in his mid 20’s… but he’s matured and realizes his disabilities in motor and intellectual are making him not like his peers anymore, they’ve moved on to university and or jobs he does get down sometimes now. We feel he will find a niche and thrive but keep supporting his accomplishments as they come just as we’ve done his whole life. Our motto was always give him time and see but secretly worry along the way. He is still sweet, loving and caring with a good attitude. It seems like a trait in a lot of TUBB3 people as we have researched so excited to find out all we could about the diagnosis. We are grateful and hopeful this spirit and nature stays as he navigates his eye getting weaker, his joints acting up as he calls it or any other symptoms that return or come along with age. We are glad only 3 years ago to get the genetic confirmation to have a name for the variety and hard to see your kid fighting through medical plus intellectual issues to just have an answer to his lifelong question: what does he have? The answer we now know is to call him a person with TUBB3 syndrome!
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