In 2011 we have birth to our beautiful town girls, Laura and Holly. Holly was tiny, but healthy and feisty. Maybe with more experience we would have known earlier, with her jerky movements and straight back, but it wasn’t really until 6-7 months when she wasn’t hitting the milestones her sister Laura was, that we started to think there may be something different about Holly

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Holly’s 8 month check showed delays and at 9 months the consultant confirmed that Holly had Global Developmental Delay and she was booked for an MRI to check for cerebral palsy, which came back negative. 

 

Life from this point was changed for ever and heading into the unknown. Suddenly it was a whirlwind of appointments and visitors. Social Workers, Occupational Therapists, Speech and Language Therapists, Portage Workers, Physiotherapists, Family Support workers, Therapy Groups……. 

 

Laura was sitting up, crawling, standing, walking, talking, feeding herself and Holly wasn’t doing any of these. However, she had THE best grin, the most sparkling eyes and an infectious, if somewhat loud, laugh and was adored by everyone she met. 

 

Life was tricky, Holly didn’t sleep much, she had lots of meltdowns, especially when tired, and time was taken up with doing her therapy exercises. It was really hard especially with her sister, who had to grow up seeing Holly having all the attention. 

 

Fast forward 4 years and a little brother appeared on the scene. Holly and Laura were starting school, but different schools, Holly’s 12 miles away and going in a taxi by herself at 4 years and 1 month old. She still couldn’t talk, or stand or walk or feed herself. But the grin and laugh and sparkly eyes were still there drawing everyone in. 

 

1 year later and through the post, completely unexpectedly, came a letter from a DNA study we had entered when Holly was 18m old. We had a diagnosis! GRIN2B. I sat in the middle of the lounge floor, surrounded by construction workers putting a lift and wetroom in our house, and cried my eyes out. 

 

That night, I joined the new Facebook group GRIN2B parent discussion group. Holly was around the 30th in the world to be diagnosed. Together, the group started finding out all that we could about this disorder. Over the next couple of years more and more people got diagnosed. Foundations started being created and conferences organised. I, myself, along with another parent and researchers from Barcelona organised the first European conference in 2018. 

 

Meanwhile, Holly was going from strength to strength, in her own time. At 6.5 she started walking, at 7 she started walking up stairs. At 9 we got some words. Holly surprises us all the time. She is still very delayed with cognitive function about that of a toddler and speech less than that, but she is always progressing, always learning and always delighting us with her wonderful sense of humour, her love for engaging with others and that amazing laugh that bubbles up from her toes and defies anyone to not join in and GRIN along with her. 

 

Don’t get me wrong, life is way more difficult than it should be. Especially juggling siblings and trying to plan for the future and fighting all the time for Holly to get the support she needs. But, we’ve met the most amazing people, both locally and in the wider global GRI community and Holly, and her siblings, continue to delight and surprise in equal measure.