On the 29th of January 2018 at 9:45 pm, our world was turned upside down. Grace was 5 ½ months old when we found her having a full tonic-clonic seizure in her cot at home. We called 999, and the fantastic paramedics took us straight 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 seizure, 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 Paediatric Intensive Care Unit (PICU) with space for her, which was Addenbrooke’s Hospital.

Grace had various blood tests, a CT scan, and a lumbar puncture procedure, but these still couldn’t provide us with any answers as to why this had happened. A neurologist suggested there could be underlying genetic reasons, so we signed up for a research project that could provide a full genetic test with results within a four-week time frame.

On Thursday, the 1st of February, at 3 pm, we were discharged to go home with no exact answers but a plan in place to try and find out.

At 4:45 pm the same day, we were back in an ambulance heading to Colchester Hospital again. Grace was having another seizure, and the same process followed. They couldn’t stop it. Some of the nurses were in disbelief that we were back again, at the same hospital, in the same cubicle as before. Grace had to be sedated and ventilated for the second time, but this time, the nearest PICU with space for her was St Mary’s Hospital in London.

We were transferred via the wonderful CATS team (Children’s Acute Transfer Service) for the second time to London.

Grace had a further five seizures within the following two weeks. She had an MRI scan, more metabolic blood screenings, and was started on anti-seizure medication. She was sedated for the third time during another prolonged seizure, but during the others, she 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 February. The best Valentine’s Day we could have wished for.

We finally received Grace’s diagnosis at the beginning of July 2018 after more in-depth testing with the research project and appointments with a genetic specialist from Great Ormond Street Hospital.

Grace was found to have a mutation in the gene RHOBTB2 (c.1448G>A).

This gene has only recently been linked to epilepsy, and Grace is currently one of around 38 people diagnosed worldwide, possibly only the third within the UK.

At this time, there is not much medical literature available, but there are a couple of studies we can refer to about the other children with the same mutation. Unfortunately, regarding her future development, it could mean that she may never walk or talk, and she may have very limited comprehension.

We hope that Grace will create her own path, but we want to do our absolute best for her and give her every opportunity to thrive.

Our first milestone with fundraising is to provide Grace with more specialist and intensive physiotherapy sessions to help her try to sit unaided. A small step for many, but for Grace, this has been more of a challenge. Our long-term goals include continuing to provide physiotherapy to help Grace reach further milestones such as weight-bearing on her legs, standing, and walking. We also hope to provide her with any specialist equipment or aids to enhance her home environment, 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 on her progress, adventures, and the highs and lows of living with RHOBTB2.

Thank you so much for reading our story and visiting our 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.