- Date published: 15 Jan 2018 by Digital Team
Parents whose two daughters were diagnosed with the same fatal disease a year ago have thanked Rainbow Trust Children’s Charity for its support and are looking forward to the New Year with fresh hope, thanks to pioneering treatment their daughters are receiving.
Nicole and Jessica Rich were diagnosed with Batten Disease within three months of one another and are receiving pioneering treatment for it and Jessica, who has just turned two, is the youngest in the world to receive it.
Parents Gail and Matthew, from Throckley, Newcastle, hope that Jessica’s early diagnosis will stop her developing full-blown Batten Disease, the rare and life-limiting genetic disorder, which causes progressive deterioration of the brain and nervous system.
Nicole’s symptoms have improved since January when she started the enzyme treatment, which can slow down the progression of Batten’s, and Jessica does not yet have any symptoms at all. Gail said:
“All eyes are on Jessica and that’s why we are full of hope because they are giving her the treatment before the problems have started and we hope she will beat it or be ok. The expectation is that she will never develop full symptoms. Nicole’s the bravest little girl, she’s a happy, gorgeous little girl and Jessica is a firecracker and we are so grateful she’s getting this pioneering treatment.”
Nicole was diagnosed with global developmental delay when she was three but she began deteriorating and losing balance and had a number of epileptic seizures. Her parents were devastated when she was diagnosed with Batten Disease last September, aged four.
Learning that Jessica had been dealt the same fate on 6 December, while on their way to the airport to fly to Lapland after Nicole had been granted a charity Christmas wish was equally devastating.
Both sisters underwent brain surgery to insert a device through which enzymes are inserted to clear away waste toxins which their bodies can’t produce. Nicole had her procedure last Christmas and Jessica’ surgery took place in May, with her first infusion in June.
The sisters receive enzyme replacement therapy every fortnight but Jessica is too young to have it in England so the family must travel to a hospital in Hamburg, Germany, while Nicole, now five, goes to Great Ormond Street in London.
The unimaginable strain of juggling these appointments with normal life, such as taking their seven-year-old son Louis to school and Matthew continuing to work, has been made easier because of Rainbow Trust, which has provided some calm and routine to their intense schedule.
Our nine care teams of Family Support Workers across England, including the North East, covering Newcastle, make life a little easier for families at home, in hospital and in the community.
Family Support Workers Sabrina and Kate provide emotional and practical support to the whole Rich family by taking the children out and giving Gail and Matthew some much needed respite. On one occasion, Family Support Workers Kate and Megan looked after Nicole while Jessica was in nursery so Gail could take Louis bowling on his birthday.
“We would be absolutely stuck without Rainbow Trust, it’s having that regular support which we can plan things around. Some weeks Matthew and I go for a coffee and have a breather for a couple of hours and we all look forward to it. Sabrina and Kate are amazing and the children love them.”
Despite their daughters’ illness, Gail said last Christmas was one of their best and this festive season will all be about family time.
“We want to enjoy every precious moment of all being together, we love being at home, letting the children enjoy their toys, playing games and eating lovely food. The big difference will be we will have to spend time in Great Ormond Street Hospital over Christmas, which will be difficult but once we are home we will be celebrating and enjoying our time together. We have been through so much since last Christmas, we will be ready for some quiet time together and making more special memories as a family.”
Gail and Matthew’s determination and motivation, together with Rainbow Trust’s support, has helped them remain strong and they have set up a legacy for their daughters, the Nicole Rich Foundation, through which they raise awareness of Batten’s and fundraise.
“We could have crumbled, to be thrown into this is beyond anything we could have imagined. No one knows about Batten Disease and it’s devastating. This has completely opened our eyes to the charity world and people who fundraise and we want to shout about it. We are doing everything we can to raise awareness of Rainbow Trust, fundraise and talk about Batten’s to fund treatment and hopefully eventually find a cure. Rainbow Trust knows how much we need and appreciate them. They are our only source of structured support and they enable us to do things together and they’ve got our back.”