The family of a little girl from Hillmorton who was born with a rare genetic condition have a special wish for Christmas.
Elsa Zapasnik, two, will never walk or talk, and needs a new wheelchair to give her the best quality of life possible.
Her mother, Lois, said: “Elsa has a rare genetic condition which means she is physically and mentally disabled. She will never be able to walk or talk and she struggles to use her hands.
"Without a wheelchair, she can’t access the world around her or play when she is out of the house. She has uncontrollable epilepsy and many other health issues.”
Elsa was born to Lois and Tom in 2020 and she was perfect in every way. She passed all of her usual newborn checks and for the next few months she developed ‘normally’. She was so happy and would smile and laugh at the slightest thing.
“When she was 4.5 months old, she had a seizure at home and was rushed to hospital,” added Lois.
She was diagnosed with epilepsy and we were discharged with a strict regime of medications to give her at the same time each day.
Lois added: “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 few months were a blur. Elsa was in and out of hospital constantly and her awareness did not improve. She could no longer sleep for more than a few hours over a 24 hour period.
On November 15 2020, the family’s world changed forever.
"We received the results of her genetic testing that she had an extremely rare mutation in the GABRB3,” said Lois.
"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.”
Lois said they 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.
She said the couple have been ‘overhwhelmed’ with people’s support and generosity since their daughter’s diagnosis.
To raise money for the wheelchair, Lois’ brother-in-law Ollie O’Mara is taking part in a gruelling challenge on December 2. Teams of two are taking part in a non-stop circuit for 24 hours at his gym.
It involves a 1 mile run; 100 pull ups; 200 push ups; 300 air squats and one mile run.
For more information and to donate to Elsa’s appeal, visit https://www.justgiving.com/crowdfunding/elsabear