We welcomed Maisie, our first born, into the world in 2018. It wasn’t until December 2022 that we received her SynGAP1 diagnosis. From the very beginning we knew our beautiful girl was not your ‘standard issue’ baby. Despite looking and acting like any other baby, there were a few red flags. She cried a lot and was extremely difficult to settle, the whole idea of “if all else fails, just cuddle” did not work for her, she hated cuddles, and getting her to fall asleep or nap for more than 20-30 minutes at a time was a major challenge.
Initially, Maisie was meeting milestones a little later than her peers, but not so late to be cause for concern. She started walking at 17 months, but she wasn’t off and racing like my mum friends had described their children were. Between 18 and 24 months she seemed to have very limited speech, everyone reassured us that she was just a late bloomer and soon we would not be able to shut her up. If only! I raised our concerns at her 2-year-old check and got her a referral to the Child Development Service. After a long wait we were finally seen and Speech Therapy, Occupational Therapy and Physiotherapy were commenced. She made fantastic gains with her gross motor skills, but her speech and fine motor skills remained way behind other kids of her age. We had her formally assessed by a Pediatrician and he diagnosed her with Global Developmental Delay. We thought we had our answer…
When Maisie was 3 and a half she started having drop seizures. After a brief visit to hospital and a normal EEG we were sent home with a diagnosis of Epilepsy, medication to control the seizures and a plan for a follow up EEG, MRI and Lumbar Puncture. Her LP and MRI came back normal, but her EEG was definitely not normal. The neurologist wanted to investigate if there was a link between Maisie’s developmental delays and her epilepsy and suggested we do some genetic testing through Invitae’s Behind the Seizure initiative. Several weeks later we were sat down in the neurologist’s office and were delivered the life changing news that Maisie has a mutation on her SynGAP1 gene.
I immediately started trawling the internet in search of information, comfort, treatment options or cure… I came across SRF’s page where I found lots of information, including links to Facebook groups filled with other families in the same situation – comfort. Sadly, I didn’t find treatment options or a cure. But I did find out that SRF and several organisations and scientific minds are thinking about our kids and are working towards finding the help that they need to alleviate their symptoms and suffering. This is why it is so important to support SRF however you can.
Since Maisie’s diagnosis (only 2 short months ago) she has started Kindergarten, toilet trained, is learning to dress and undress herself and begun learning to use her AAC device. This is a lot for any person to take on, but especially for a person whose brain doesn’t function as well as it should. And she is doing it with grit, determination and a smile on her face – mostly! She is definitely a SynGAP Warrior! We could not be more proud of her!
Also, thankfully she grew out of hating cuddles and is now super affectionate and is a Grade A+++ cuddler!