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United Kingdom
9 years old
January 13, 2021

Kimberley

Kimberley has 2 older siblings who love her dearly and are so patient and understanding. She still has a big impact on them as they’ve had to learn extra patience.

We noticed Kimberley showing signs of delays from 6 months old as she didn’t crawl, sit up until much later without support as well as late walking and never babbled. 

Kimberley was diagnosed in 2013 with global developmental delays as she had no speech. She showed behavior problems such as, aggression, self harm (biting, hitting her head).

After 4 years of being in the unknown we received our SYNGAP1 diagnosis in March of 2020.  We received this diagnosis from 100,000 genomes project genetic testing.

Kimberley suffers with sleep disturbances. We give her melatonin but she still wakes up most nights and stays awake. Her brain just does not seem to want to shut off. She is still in diapers. She has limited speech, on her best days she says around 8 words. She has obsessions that can lead to extreme frustration. If she is on her iPad (watching ambulances or blippi) and it suddenly switches off she will go into a rage. Kimberley has a high pain tolerance. She has no danger awareness so she has to have 1:1 care at all times. She thrives from routine and familiar settings, shows aggressive outbursts when there is change. Currently she is showing absence and myoclonic seizures but we are currently waiting on an EEG for further testing.

She attends a Special Educational Needs (SEN) school which she loves going to. Kimberley loves music ,dancing ,horse riding, being outside whatever the weather. Most of all, she loves water, a true Syngapian.

Kimberley is the most determined little girl I know, she can be very affectionate and happy. We all love her so very much. 

Having a SYNGAP1 diagnosis was tough to hear but we have the best support from other families like ours were a huge SYNGAP1 family I don’t know where we’d be without them.

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