Our son Tomas was born perfectly healthy 51 weeks after his eight year old sister tragically passed away from pneumococcal meningitis. I’m sure everyone can imagine the joy he brought back to our lives, not just ours, but also the grandparents’ and our friends’.
Within a week we started noticing light gazing, no eye contact and difficulty in sucking.
All doctors only commented that he is “a bit more floppy” and has a lot of “jerks” when falling asleep, nothing to worry about. Nobody clued in.
On the day of his immunization he had his “first real seizure” so 13 months after we left the hospital after a seizure ended the life of our daughter, we were back with our baby having seizures. The neurologist that treated our daughter just stared at us, she just couldn’t believe it was us again. Usual tests revealed nothing, usual epilepsy medication did nothing and our hope for an answer was Whole Exome Sequencing. Which revealed GRIN1 mutation.
Fast forward 18 months and our boy has a laundry list of medical labels attached to him, his mother reads medical journals like a pro (despite only learning English twenty odd years ago) and our family has a label of “great inspiration and ultimate survivors” in our small town.
Despite all the crazy medical challenges Tomas is a sensitive, sweet boy loved by so many.
If you are standing at the start of your journey get ready for a roller coaster ride full of twists and turns. There is no reason to pretend it’s going to be all roses and sunshine, but I can guarantee you a time of your life. I love the saying that “diamonds can only be made under great pressure” and this amazing GRIN1 community is full of diamonds, shining bright.