Ashleigh’s Fundraiser – GRIA2: DONATE
Ashleigh was diagnosed with GRIA2 in 2019, I remember that day so well! I thought all our prayers were answered! Little did I know back then how little was known about the condition and it is only through the hard work of curegrin and researchers at ucl and in America and Europe that we know as much as we do today! You guys are amazing!
Ashleigh (patient 2) was part of the initial study by Vincenzo Salpietro and his team at UCL. So I guess you could say she made history!
Back then we didn’t know any other families but Vincenzo put me in touch with a Family in America so we kept in contact and we found it truly fascinating how similar our kids were. Swapping photos and videos of our kids. It was amazing to finally talk to someone else who truly lived a similar life to us. And we became friends on Facebook. I spent many evenings googling and researching the internet for more information or people with Gria2. With the help of the internet it led me to Curegrin! Finally a place where we could be in touch with families, researchers and clinicians all under one roof so to speak! I’ve also made some fantastic friendships with other families which is amazing.
Ashleigh’s main symptoms are:
- Non verbal/communication difficulties
- Challenging Behaviour
- CVI
- Dysphagia
- Sensory proprioceptive disorder
- Dysautonomia with dystonia (PSH)
- Sleep problems
- Double incontinent
Ashleigh’s behaviour is the most debilitating part of her condition. It holds her back from being able to do every day things, and interrupts her learning process. She goes from happy to crying or hyperactive at the flick of a switch. She can spend ours a day screaming (anything up to 6 hours) and then suddenly stops, she then becomes extremely heightened and can push, hit, kick, bite or try to break furniture. Transition is a trigger, the car stopping can be a trigger but quite often there is no obvious external trigger.
Part of what we thought was behaviour problems has now been diagnosed as Dysautonomia with dystonia, in the form of neurostorms (paroxysmal sympathetic hyperactivity) and while she is on medication for these storms, she still has breakthrough storms. As the storm unfolds you can see her skin starts to become very red and blotchy and the red patches feel hot to touch, her pupils dilate and her heart rate increases, in this state she can become very stiff with abnormal posture (dystonia). There is absolutely nothing I can do to help her only make sure she is safe and keep reassuring her that I’m there for when she needs me, if anybody gets to close to her when she is in this state she can become very physically aggressive scratching, grabbing hair and biting.
She also has unusual muscle movements that are probably uncontrolled but can appear to look controlled/repetitive.
Aside from Ashleigh’s difficulties she is a very loving child.
Ashleigh enjoys going for long walks in the forest and along the beach and listening to drum and bass music.
Although Ashleigh is classed as non verbal she can say Mum, Mummy, Momma and I want it. Her understanding of spoken language is really good. She communicates mainly through body language, but is starting to use photos and pictures to make choices (pecs) she also has a communication app called GRID but we are just at modelling stage for this.
Ashleigh also has a brilliant sense of humour.
Ashleigh attends a college for visual impairment and complex needs for 3 days per week and really enjoys spending time with her peers, she has made great progress at college.
