Ollie and Amelia, to all appearances, were healthy and active children before they were diagnosed with Batten disease. This is our family’s journey so far.Donate now
Our third son, Ollie is born
Our third boy, Ollie, is born. Although the birth was complicated, he was checked over and was said to be healthy.
Ollie was a happy baby, who would welcome everyone with a cheeky grin. Ollie was later diagnosed with asthma, and spent most of his first year in and out of hospital. This, however, didn’t stop him from hitting all of his milestones. Ollie was even walking before the age of one.
Ollie’s second birthday
Ollie’s second birthday. We notice a mild speech delay and he becomes increasingly clumsy.
Each time we mention this to healthcare professionals, we are told not to worry and that he would catch up. We put our trust in what they said and carry on with life.
Amelia is born
We are handed our beautiful baby girl. It was a complicated pregnancy, and we nearly lost her during labour.
But breathing in that amazing newborn smell, feeling that warm breath on your skin, counting those tiny fingers and toes… to look at Amelia, she was perfect in every way.
With three young boys at home, we knew life would be busy but we couldn’t wait to start our life as a family of six.
Ollie, meanwhile, is attending speech and language therapy but no one’s concerned. We are reassured that he would catch up by the time he reaches school age.
Ollie has his first seizure
On returning home from pre-school, Ollie develops a temperature. A trip to our local GP confirms a urinary tract infection.
Later that evening, Ollie has his first seizure. We realise that Ollie isn’t breathing so Ollie’s dad performs mouth to mouth resuscitation and brings our little boy back.
Ollie is rushed to our local hospital where we were told he’d had a febrile convulsion — a seizure brought on by a high temperature. Ollie came home the next day. We felt relieved, thankful that the nightmare was over. Little did we know that this was just the beginning.
But from then on, Ollie began having weekly seizures with no signs of a raised temperature. Doctors at our local hospital can’t work out what was happening so we decided to take him to Manchester Children’s hospital in the hope of finding out what was wrong and, most importantly, making Ollie better.
Ollie is referred to a neurologist
An electroencephalogram (EEG) test confirms Ollie has generalised epilepsy. He is prescribed an anti-convulsive medication.
Doctors perform a magnetic resonance imaging (MRI) scan which shows a small abnormality in the cerebellum.
Ollie is referred to a neurologist. Once again, we’re reassured by professionals that this is nothing to worry about.
Throughout all of this, Ollie is his normal, happy and lovable self; he continues to attend pre-school and is thriving. Ollie can run, he is talking in sentences and has found a love in football.
Meeting with the neurologist
We receive a phone call asking us to bring Ollie in to meet with the neurologist.
Our gut instinct tells us something is very wrong but our brains tell us the doctors would not ask us to bring Ollie in if it was bad news.
This day will stay with us forever. I can still remember the colour of the walls, even the smell. As we sat in that small room with Ollie on his daddy’s knee we were told that our child has Batten disease. There is no cure and that life expectancy is between six and twelve years. It is so rare, they had never come across a child with it before. Ollie was just four years old. Our world fell apart in that moment.
Trying to process what we’d been told, we decided to get away as a family for a few days. A short break away turned into a nightmare as Ollie had fourteen seizures in the space of a few hours.
It was at that point we decided to stand up for Ollie and get him the best care possible. We begin research and find specialists in London and amazing support from the BDFA.
After a long discussion we chose to get Amelia tested for Batten disease after learning she had a 25% chance of also having it.
For the second time our world falls apart. We learn our beautiful princess, Amelia, also has Batten disease. She has only just turned two, she was hitting all her milestones. To look at her you would never know.
Walking out to our two older boys in the waiting room, trying to hold it together and act normal is one of the hardest things we’ve ever had to do.
Over the next few months we watched helplessly as Batten disease takes over Ollie’s body.
The fight continues
We are fighting for compassionate use of a drug that shows positive signs of slowing down CNL2 Batten disease. We worry that it might come too late for Ollie which doesn’t bear thinking about. The drug is administered directly into the brain every two weeks via a four hour brain infusion for the rest of the child’s life.
Our older boys are going through so much; they don’t understand what is happening. They see their baby brother deteriorating in front of their eyes and soon they will have to watch their baby sister go through the same thing. At the age of nine and seven they have watched their brother be brought back to life by their own father, they have witnessed countless seizures, they worry that we won’t be at home when they return home from school. For them to be able to enjoy the fun times with their brother and sister and make amazing magical memories rather than remembering the bad days means more than words can say.
Ollie’s fifth birthday
Ollie celebrates his fifth birthday surrounded by his family and friends. He can no longer walk or play football, he struggles to speak and our boy who once loved food can no longer feed himself.
Ollie suffers with seizures and picks up every bug going. He spends lots of time attending appointments and is often poked and prodded.
Despite it all, our Olliebobs is still that smiling, beautiful boy. He is famous for his high fives and thumbs up. Amelia has recently been assessed and we are very proud that she is hitting all her milestones.
Compassionate use granted
Ollie is finally granted compassionate use of a drug from an American Pharmaceutical Company, Biomarin.
Ollie travels to Great Ormond Street Hospital in London to undergo brain surgery to fit an access device. Two weeks later Ollie starts enzyme replacement treatment in the hope of slowing down the progression of the disease.
This treatment involves a four hour brain infusion over the period of four hours every two weeks. Currently Great Ormond Street Hospital in London is the only centre in the UK that will administer this treatment.
Ground breaking treatment
Amelia is also given access to this ground breaking treatment. Although it is incredibly hard to watch our children go through surgery, we have to give them this chance. Otherwise we know we would have to stand by and watch the disease take over their tiny bodies.
Our children are incredible. We will never forget the first time they were given this pioneering treatment. It’s like watching a miracle being performed. This treatment is the first of its kind and Amelia herself is a first — she’s one of the youngest children in the world to be receiving it.
More importantly, at the age of five, she should be experiencing the full effects of this disease. Instead she is thriving. But, even though Amelia is astounding professionals with her development, her future is unknown.
The treatment is approved
We start campaigning alongside other families, professionals and the BDFA to make this treatment available on the NHS for all children diagnosed with Batten disease in England.
The treatment becomes approved by the Food and Drug Administration (FDA) and the European Medicines Agency (EMA).
As parent representatives, we were able to get involved with the National Institute for Health and Care Excellence (NICE) process. After months of meetings and gathering evidence, NICE made the recommendation that NHS England do not fund this treatment.
We were devastated, without it our children would rapidly deteriorate and die. We could not give up, with the amazing support from our supporters at Ollie’s Army we launched legal action against NICE. In doing so, we took another CNL2 family suffering from Batten disease, as well as our own children, through a judicial review.
The treatment is now available for all children with CNL2 Batten disease
After a long legal battle by our solicitors at Irwin Mitchell, just days before our case was due to be heard at the High Court, NICE reverts their decision. The treatment is now available for all children with CNL2 Batten disease in England under a five year managed access agreement (MAA).
We are, of course, over the moon with this result but our hearts are with those families that this news comes too late for. We’ll never forget these precious children and their families.
Our rainbow baby is born
Our rainbow baby is born. Our seven pounds bubble of joy enters the world just one week before Christmas. She’s the perfect gift and most importantly she’s free from this hideous disease.
All five of our children are a true blessing, we’re incredibly proud of each of them, their love of life and pure determination keeps us going.
We are now working with Great Ormond Street Hospital and The Royal Manchester Children’s Hospital in the hope of setting up a new treatment centre in Manchester. This will benefit families in the north of the country who currently have to travel to London every two weeks.
Quality time with the family
Recently, Carl Thomas from Stockport aimed to set a new world record to be the first person to ever run a full marathon pulling a plane!
After pulling the 1.25 tonne plane for an exhausting 24 hours, Carl achieved this amazing feat, raising a fantastic £23,000 for Ollie’s Army.
For us as a family, our time is now dedicated to spending as much quality time with all of our children, whilst raising as much awareness of Batten disease as possible.
The most important thing for us is to make every moment count. We don’t let our old worries bother us. We continue to fight for our children and raise awareness of Batten disease.
Every day that we spend as a family of seven is a gift and we will never take this for granted.