Holly was born just before her due date. It wasn’t the easiest birth and things weren’t easy from the beginning. She had problems feeding and cried a lot. Eventually she started to gain weight and drank high calorie formula. We thought she would then settle and catch up with her peers, but the gap kept widening and she didn’t meet her milestones.
Eventually we had a referral to a pediatrician when she was about 8 months and the ball got rolling. They slowly ruled out most things and suggested it was likely to be a genetic condition.
We got the call in December 2018 through the genome 100,000 project saying she had GRIN2B.
We still haven’t got our head around it all, but knowing what it is has really helped, as has the help and support from the GRIN families.
Holly is a very sociable little girl. She is smiley, funny, cute and sweet. She loves kisses, high fives, funny noises, music, horses, tissue paper, foam and much more.
She is gaining the confidence with her walking, only needing someone’s hand or finger for support. She can say a handful of words, sign several more and can point to objects or pictures to make herself heard.
She loves going out and easily makes friends wherever she goes.
She can be loud, unpredictable and get very frustrated at times, but on the whole we are very proud of her. She has so much to contend with, but together we will get through it all and what ever life throws at us next.
As hard as it has been, having Holly has enriched our lives, made us appreciate the small things and taught us to be more patient.
If there was a cure for GRIN, though, that would be amazing! Fixing the faulty gene and unlocking our daughters full potential. We dream of that day and have hope for the future.