On the 29th January 2018 at 9.45pm our world was turned upside down. Grace was 5 1/2 months old and we found her having a full tonic clonic siezure in her cot at home. We called 999, and the fantastic paramedics took us straight up to A&E. We had no idea why this was happening, or what was going to happen next.
After various medications they couldn't stop the siezure so Grace was sedated and ventilated to keep her stable and safe. She had been in a full tonic clonic seizure for around 45 minutes, which is very unusual.
That night we were transferred to the nearest Peadiatric Intensive Care Unit (PICU) that had space for her, which was Addenbrooks hospital.
Grace had various blood tests, a CT scan and a lumbar puncture procedure which still could not provide us any answers to why this had happened. A neurologist suggested there could be underlying genetic reasons and we signed up to a research project, which would be able to give us a full genetic test and results within a 4 week time frame.
On Thursday the 1st of February at 3pm, we were discharged to go home, with no exact answers but a plan in place to try and find out.
At 4.45pm the same day, we were back in an ambulance, heading to Colchester hospital again. Grace was having another siezure, and the same process followed. They couldn't stop it, some of the nurses were in disbelief that we were back again, the same hospital and the same cubicle as before. Grace had to be sedated and ventilated for the second time but this time the nearest PICU with a space for her was St Marys Hospital in London.
We were transferred via the wonderful CATS team (Childrens Acute Transfer Service) for the second time, to London.
Grace had a further 5 siezures within the following two weeks, she had an MRI scan, more metabolic blood screenings and was started on anti siezure medication. She had been sedated for the third time during another prolonged siezure, but during the others she had responded well to emergency rescue medication. We were transferred back to Colchester hospital, thankfully closer to our family and friends.
We were discharged home again on the 14th of Febraury. The best Valentines day we could have wished for.
We finally recieved Grace's diagnoses at the begining of July 2018 after more in depth testing with the research project and appointments with a Genetic specialist from Great Ormond Street Hospital.
Grace had a mutation of the gene RHOBTB2 (c.1448G>A).
This gene has only recently been linked to epilepsy and Grace is currently only one of around 38 people diagnosed around the world, possibly only the 3rd within the UK.
At this time there is not much medical literature available, but there are a couple of study's we can refer to of the other children with the same mutation. Unfortunately, in regards to her future development it could mean that she may never walk or talk, and I have very limited comprehension.
We hope that Grace will create her own path, but we want to do our absolute best by her and give her every opportunity to thrive.
Our first milestone we are aiming to reach with the fundraising is to provide Grace with more specialist and intensive physiotherapy sessions to help her try and sit unaided. A small step for many, but for Grace this has been more of a challenge. And our long term goals include to continue to provide physiotherapy to help Grace reach further milestones such as weight bearing on her legs, standing and walking. We also hope to be able to provide her any speiclist equipment or aids to enhance her home enviroment, and any adaptations to our house that may be required as Grace grows older.
Please visit Grace’s Facebook page, “Hope For Grace” for regular updates of her progress, adventures and highs and lows of living with RHOBTB2.
Thank you so much for reading our story, and visitng out fundraising page.
7.5% of all donations to Tree of Hope in relation to this appeal will be allocated to the general charitable purposes of Tree of Hope to cover our core operating costs.
If we raise insufficient funds, or surplus funds, then the funds will be used, if appropriate, to fund support for our child’s needs in accordance with Tree of Hope’s charitable objects. If in those circumstances we are unable to use all or part of the funds for the benefit of our child in accordance with Tree of Hope’s charitable objectives, then any funds that cannot be used will be transferred to be used for the general charitable purposes of Tree of Hope
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