Imagine the elation of finding out you’re having twins, believing your own battle with Leukaemia had made it impossible.
Imagine the surprise; the excitement; the joy.
Imagine three years later your healthy babies are blind, autistic…and told they will die. Before you…
Healthy twin boys, Freddie and Louie, were gifted to Sarah and Andrew in 2005. Life was perfect if not a little daunting. They started planning their future like everyone else with holidays and playing in the park; they loved watching their children develop and grow. Little did they know what was around the corner…
The first twinge of concern registered when the boys were slow to walk; this grew to further trepidation when approaching two and the boys had only a few words to say.
Diagnosed by the doctor as having Autism, the parents read up on the condition and prepared themselves as best they could to help their children cope with the condition and to live a full life.
Nature then dealt them a new blow.
“The boys’ eyes began to flicker and they started tripping over things. We noticed that Freddie in particular would sit very close to the television.”
The family were referred to Great Ormond Street Hospital and several blood tests later, the boys were further diagnosed – with Batten disease. A fatal, inherited disorder of the nervous system.
“In simple terms this means that the boys’ health will continue to deteriorate over their short life-time. They will never get better and that is a really hard thing to come to terms with. It was traumatic watching two young, frightened toddlers coping with autism and then going blind. The boys used to sit on the floor banging their heads in frustration.”
Completely blind by the time the boys were three, and now with unsteady legs, the family endured test after test at Queens Medical Centre in Nottingham. Doctors already suspected a neurological condition.
“I remember driving to QMC for the diagnosis and Sarah saying to me ‘this day will change the rest of our lives’. Those words still live with us today. Nothing could have been more true.”
The family learned that Freddie and Louie had Batten disease, a common name for a group of inherited, neurological diseases that are currently fatal. The family were referred to Great Ormond Street Hospital and several blood tests later, the boys were further diagnosed – with the rarest form of Batten disease, late infantile variant CLN5.
Freddie and Louie are the only identical twins in the world that suffer from this disease.
“In simple terms, we were told the boys’ health would continue to deteriorate, with epilepsy and cognitive and motor disabilities. The doctors know little about CLN5 but predicted that Freddie and Louie will die before the age of 14. Our hearts broke in a million pieces.”
In 2009, doctors said that unless major advancements in medical science were made, there was no hope, no treatment and no cure. In 2014, those advancements have been made meaning doctors know more about CLN5 and need just £20,000 to complete the next stage of research to find a treatment. There is hope – but no money.
Now eight years old, the boys have been through a difficult, emotionally loaded time full of experiences no young child should have to cope with. The exceptional challenges of walking and talking; the loss of their sight; sleeplessness; the continuing deterioration of their quality of life.
Former nurse Sarah and retailer Andrew can no longer work.
“It all sounds sad but there are moments of joy that will create a lifetime of memories for us. The most significant was when Freddie smiled for the first time in three years! We found hope. We now fight to live life. We take great joy in the little things – like swimming or listening to music from Olly Murs to the Beastie Boys and even classical music. The music performed by violinist Daniel Hope, that we have used in the video telling our story, evokes enormous delight and passion in Freddie and Louie.
“We cannot thank Daniel, Ludovico Einaudi and Warner Chappell enough for granting us permission to use “I Giorni” – it holds a very special place in our hearts.”
The couple’s next challenge, in their already incredible journey, is to raise £20,000 by June 2014 so that research can start as early as October 2014; funding that is they raise, will go directly to tackling CLN5.
The Batten Disease Family Association, also known as the BDFA, have helped the family in many ways including getting Freddie and Louie into a special school.
“Without the help from the BDFA, it would not have been possible for us to understand what is needed to help develop the research that could children’s lives.”
Want to help us Battle Batten? Then please click on our ‘supporting us’ page and help us raise money for research by donating what you can.