Elsa was born in 2020 and she was perfect in every way. She passed all of her usual newborn checks and for the next 4.5 months she developed ‘normally’. She was so happy and would smile and laugh at the slightest thing.

On 15 June 2020, she had a seizure at home. She was taken to hospital and admitted to the High Dependency Ward. That day she had another 7 seizures. She was diagnosed with epilepsy and we were discharged with a strict regime of medications to give her at the same time each day. We were so frightened and I used to sleep with my hand on her tummy for fear of missing a seizure. We would look at our smiley girl interacting with the world around us and thought that she would be one of the lucky ones who had a relatively normal life but happened to have epilepsy, how wrong could we have been.

Over the next 6 weeks, she was sleepier than usual but still developing albeit slower than the norm. At around 6 months old, she was almost sitting up and I will always remember a particular sunny day in the garden where we had so much fun with her and she felt physically stronger again. We felt like luckiest people in the world.

She was still having seizures, however, and she suddenly started having more and so she was admitted to hospital again and a new medication was started. This was the beginning of the most traumatic period of our lives.

She went from our smiley happy baby to overnight not being able to lift her own head up, staring at a wall for hours and hours on end, no longer making eye contact or even looking like she could see anymore. She didn’t notice anything, hear anything or do anything.

The next 3 months were a blur. Elsa was in and out of hospital constantly and her awareness did not improve. She could no longer sleep at all and would maybe sleep 2-3 hours in a 24 hour period.

On 15 November 2020, our world changed forever. We received the results of her genetic testing that she had an extremely rare mutation in the GABRB3. Based on how severely affected she was already, they predicted that she would be profoundly disabled both physically and mentally and was unlikely to live longer than 18.

Over time we have come to accept the life she is going to have and the limitations she faces daily. It isn’t always easy and we are still grieving but she is our world and we could not imagine life without her. She is so loved and we are so thankful for every day we get with her.

She has only laughed a handful of times and she stopped smiling for almost a year. This year has been so much more positive and she has become much more alert, smiley and generally more settled. She makes babbling noises and tries so hard to use her hands.

Her limitations are profound. She can’t hold her own head up and the only way she can play is by being in a specialist chair that will give her the support she needs to purposefully use her hands.

She would love the opportunity to have a suitable wheelchair which will give her access to the world around her, allow her to play and give her the best quality of life possible.

Elsa is a two year old beautiful little girl who suffers with a rare genetic condition. As a result, she will never be able to walk or talk and she suffers with daily seizures. She struggles to use her hands and the only way she can properly play is by being in a specialist chair. She would love the opportunity to have a suitable wheelchair which will give her access to the world around her and give her the best quality of life possible.