The story of Kimberley
Our SYNGAP1 story
Our Kimberley
Kimberley is our beautiful, funny and loving 10 year old girl. She has the most endearing laugh and when she’s happy she shines.
She was born 10lb 9oz. During birth she got stuck but with a little help from the team that rushed in, they pulled her out.
As Kimberley grew she was late reaching her milestones such as sitting, crawling and walking. In toddlerhood Kimberley didn’t babble at all. She was like a doll, so quiet. Her eyes were vacant and she showed no eye contact. She was always dribbling with her tongue poking out. Kimberley played very much on her own and wasn’t bothered at all with others. She really enjoyed being upside down and would often stand and drop her head down to the floor in a downward dog style pose.
Relief of diagnosis
Over the years consultants couldn’t find any answers as to what was causing all the symptoms Kimberley experienced. Despite many rounds of bloods and MRI scans nothing was found. In 2015 Kimberley took part in the 100,000 genomes project. Five years later in 2020 we got the results: a genetic change on the SYNGAP1 gene.
As a mother I felt a weight had been lifted with Kimberley’s SYNGAP1 diagnosis. I knew there was something unique about Kimberley and it’s a relief to finally have answers. As I learned more about SYNGAP1, all the aspects of Kimberley’s struggles made more sense. The majority of people with SYNGAP1 have some kind of epilepsy. Although Kimberley experiences absence-like moments, she hasn’t yet shown seizure activity on an EEG. Now we know about SYNGAP1 we can be alert to the possibility of seizures in the future.
Effects of SYNGAP1
Kimberley remained non-verbal for a long time and could only really communicate through Makaton. She wasn’t always understood and this left her frustrated. As a result, she developed challenging behaviours. Kimberley now attends a SEN school where she is happy with routine and willing to learn. She does tend to hold in her frustration and masks at school till she returns home. She’s showing traits of Autism and is currently being assessed. Like other people with SYNGAP1, Kimberley has repetitive and OCD-like behaviours which can have a huge impact on her ability to function day-to-day.
Kimberley has speech and language therapy weekly and uses PECS to communicate. This year she’s getting an AAC device so she has another way to communicate. She currently has a small vocabulary of words. At the age of 6 Kimberley was finally able to say “mama”. As her mum, you can imagine I loved hearing her repeat that over and over! For so long I wondered if she would ever be able to call for me.
Kimberley enjoys watching Peppa Pig and playing Roblox on her iPad. She has a passion for supermarket names and tries spelling them out as best as she can. Her love for ambulances is enormous and she has become completely obsessed with them. Like Peppa, Kimberley is happiest outdoors jumping in puddles. Most children with SYNGAP1 love swimming and Kimberley is no exception! She also loves going horse riding but doesn’t like when her lesson is finished and has to get off. She’d ride all day if she could. Being outdoors is great for Kimberley’s mood, but when there’s open space she will elope and doesn’t have any awareness of potential dangers.
Devastatingly, Kimberley lost her “Dadda” suddenly in August 2020. She has no understanding of where he’s gone. The loss hit our family like a tonne of bricks. Myself, my fiancé and Kimberley’s dad co-parented together very well and to lose that balance shook our family life, especially as we were struggling through the COVID-19 pandemic. During lock-down Kimberley’s needs were intense and full time. Without any support or respite, our family’s need was greater than it had ever been.
Kimberley struggles with sleeping too. She can wake up at any time of the night and not fall back off to sleep. In some cases she won’t sleep at all. This has a severe impact on Kimberley’s well being and our whole family’s quality of life.
Kimberley’s future
Now we know Kimberley has SYNGAP1, we have access to a community of families all around the world through the SynGAP Research Fund and the umbrella organisation Syngap Global Network. Knowing we’re not on our own is reassuring. We are all there for one another, learning about our children together and raising awareness of this disorder. Together we fundraise for research into a treatment and we hope for a cure one day.
Kimberley will always be delayed. She will need daily care throughout her life. It’s a constant worry. When I pass, who will care for Kimberley? Who will love her the way we do? Who will understand what she wants? Will her needs be met?
I truly hope we can find a cure for all “Syngapians” so they can have a better, happier, fulfilling life.