Emily's Story

"Emily had her first seizure when she was six months old.

That moment changed our lives forever.

When Emily was two, she was referred to Great Ormond Street Hospital (GOSH). That is when we were told she had a very rare neurological condition. It is called de-novo-heterozygote variant gene SCN8A and it causes really bad seizures and global development delay.

There is no cure.

Hearing that broke us. We were very scared. We didn’t know what to expect for our daughter, for her future.

Now Emily is eight. She still has seizures every week, she is non-verbal, and she uses a wheelchair and a walking frame. My husband Bujar and I have to be with her all the time, day and night. We give her medicine, monitor her, and if her seizures go on too long, we have to call an ambulance and rush to hospital.

In September 2023, a social worker referred us to Rainbow Trust. Not long after, we met Family Support Worker Abi. She is such a lovely person and has been so supportive.

Abi helps us get to appointments at GOSH and Addenbrooke’s Hospital in Cambridge. I have only just passed my driving test, and I am scared to drive alone with Emily because of her seizures.

It is just too much pressure and I feel very anxious. Abi picks us up and drives us, which takes away that stress of driving with Emily alone, traffic jams and finding parking. We would have really struggled without this support.

Before Abi, my husband Bujar had to take time off work to drive us to hospital, and he would lose a day's wages. We were really struggling financially because it is only him working, providing for the family. Abi’s support has helped ease that burden and has given Bujar peace of mind.

Emily’s condition is a lot to manage and some days it feels like I just can’t cope. When it gets too much, having Abi to talk to makes a big difference. It has helped me to feel less alone. Abi also spends time playing with both Emily and Bjorn, who is now three. They have such a special bond with her. She makes them laugh and smile and they have fun. And for a little while, I can breathe, I can catch up on things or just have time to myself.

We don’t know what the future holds for Emily. That is scary. But I do know that without Abi and Rainbow Trust we would still be like we were three years ago, struggling.

Abi and Rainbow Trust have changed our lives."

Remila, Emily's mum