Local fundraising group Simon’s Heroes has gifted a Tamworth girl with a rare medical condition, a special holiday treat in the Cotswolds.
Grace Horton, aged 7, was born with a rare brain malformation called Lissencephaly, where the surface of the brain is smooth rather than full of ridges. It results from the inability of nerve cells to connect with one another to reach the surface of the brain due to the nerve cells being stuck in an abnormal position.
Her condition was identified 2 weeks after she was born after undergoing a CT scan due to her unusually small head circumference – a typical indication. Like other disorders, Lissencephaly can occur in varying degrees. Generally symptoms include seizures, difficulty swallowing and eating, impaired vision and hearing, slowed growth and limited mobility. Grace has the most severe form. Her condition is caused by a rare mutation in the tuba1a gene, which helps move nerve cells to their proper location during brain development. There were only 8 children worldwide with Lissencephaly who had the tuba1a gene defect when she diagnosed.
From the age of 5 months she began to have seizures which she still endures daily. She also suffered from acute reflux but despite several attempts to treat it, it was decided to disconnect her stomach from her oesophagus to give her some relief and she is tube fed through her stomach. She spends most of her time in her wheelchair, she is unable to speak and has limited sight, her hearing is her strongest sense. She undergoes physio once a week and, during the warmer weather, attends Saxon Hill Special School in Lichfield which caters for pupils with complex medical needs. Frequent hospital visits occupy a lot of the family’s time, which requires them to travel all over the country to see specialist consultants.
Grace lives with her mum Claire, Dad Adam and big sister Annabel (9). Her dad is her full time carer whilst mum works all week at a local sandwich factory. To date, her family have fundraised to buy equipment for Grace to make life a little easier, some of which they have subsequently donated to others in need as Grace has outgrown it.
The prognosis for children with Lissencephaly depends on the degree of brain malformation. In the past, life expectancy was said to be around two years of age. However, with advances in seizure control, and treatments for respiratory illness, most children with the condition live well beyond that. Grace is considered a long term survivor and despite her condition, continues to do well and still manages a smile.
Every day is precious for Grace and her family so Simon’s Heroes wanted to give them something they would be able to cherish. Claire and Adam had spoken fondly about their first family holiday together at Hoburne Holiday Parks in the Cotswolds, therefore it was decided a break at their favourite retreat would provide them with much needed respite and quality family time. Simon’s Heroes also supplied a snuggle chair for Grace’s room, which converts into a bed so that mum and dad can stay with her and watch over her when she is feeling particularly poorly.
‘Thank you to Simon’s Heroes for your gifts, it means a lot to us, they will help us make memories that we will treasure always.’
Claire Horton.
Simon’s Heroes began as a simple running and fitness club, which aimed to help worthy causes through sponsored events. The club has now grown into a major charitable organisation with dozens of dedicated members providing funds for people in need.
