Isaac, living with CHEDDA Syndrome

Hi, my name is Jessica; I live with my partner David and our 3 amazing children. Amelia, Olivia and Isaac. My pregnancy with Isaac was anything but normal, our 10-week scan is when we were told he had an issue with his heart, and my pregnancy was closely monitored, and included countless scans in Bristol, Gloucester and Cheltenham. Isaac was born on 1st July 2019 and was rushed to SCBU. He spent the first six months of his life in hospital and needed surgery in Bristol.

Isaac is severely disabled and has recently been diagnosed with a extremely rare syndrome named CHEDDA which stands for congenital hypotonia, epilepsy, developmental delay, and digital anomalies. Isaac is just 1 of 2 children in the UK and there are only around 18 worldwide currently with CHEDDA syndrome.

Isaac is profoundly deaf in both ears , some heart problems, has poor control of his limbs and head, is unable to sit and his movements are uncoordinated. It is very unlikely Isaac will ever be able to walk or communicate in any way. Isaac is fed through a pump (gastronomy) and requires 24-hour care. and as such I cannot now work as I am a full-time carer for Isaac. Life is tough and it seems impossible at times caring for Isaac, looking after our girls and countless hospital appointments to juggle each month as well as hospital admissions. It has had a massive impact on my own well being, mentally, physically and financially, resulting in my partner reducing his work hours to part-time to provide additional support to the family. We struggle but we have to get by and take each day as it comes.

We are currrently wishing to raise money to give Isaac a better quality of life and to spread awareness of CHEDDA syndrome. Isaac's needs are ever-growing and any funds raised will go towards a deposit for a wheelchair accessible car, a downstair's bedroom and a wetroom, sensory equipment, house adaptions, hoists, specialist seating equipment and easing the ongoing financial implications of living with a disabled child.

Thank you for taking the time to read this and please spread awareness of CHEDDA syndrome.