'They're proof it works': Family in funding fight for 'miracle' Batten disease treatment
Lucy Carroll says her children now have an "amazing quality of life" following treatment for Batten disease - a fatal condition.
Monday 30 April 2018 14:14, UK
Every parent's worst nightmare came true for one couple twice over, after two of their children were diagnosed with the same extremely rare and life-limiting condition.
However, a pioneering treatment has given a new lease of life for the two youngsters living with Batten disease and their family is now campaigning for it to be funded in the UK.
Lucy Carroll, the mother of seven-year-old Ollie and five-year-old Amelia, spoke to Sky News about her family's journey:
The 13th February 2015, a date that will stay embedded in our minds forever.
As we sat in a small hospital room with Ollie sat upon his daddy's knee we were told that our child had CNL2 Batten disease, that there is no cure, no treatment and that life expectancy is between six and 12 years.
Ollie was just four years old. Our world fell apart in that moment. We were told that Batten disease was so rare they had never come across a child with it before.
I remember looking at my husband, tears running down his face and Ollie wiping away his tears totally unaware that the doctor had just told us he was dying. I could hardly breathe in those moments.
Children with Batten disease cannot make an enzyme that is responsible for eliminating waste that builds up in the brain. Over time affected children suffer worsening seizures, progressive loss of sight, loss of motor function, loss of speech and the ability to swallow.
Batten disease is always fatal. Children diagnosed with Batten disease will also suffer from dementia as the disease progresses. Never would we have thought our young children would experience such a devastating symptom.
We know so many people are unaware of the struggles children face when diagnosed with a rare disease, we used to be one of them. We recently joined forces with Dementia UK and joined the #dementiastrikeschildrentoo campaign to raise awareness of dementia affecting children.
After long discussions with the specialist, we decided to get Amelia and our older boys tested for Batten disease after learning they had a 25% chance of also having the disease.
On 30 March 2015 our world fell apart for the second time as we learned our beautiful princess also had Batten disease. Amelia had only just turned two.
The pain in our hearts soared until it was almost unbearable. Words cannot describe the pain of knowing two of your children are dying. Looking into our babies' eyes, we knew we had to fight.
We continued to research and found a trial being carried out at Great Ormond Street Hospital, London. The enzyme replacement trial was showing positive signs of slowing down the progression of the disease.
To add to our torment, we soon learned that the trial was closed to new patients. What hope there was to grasp onto seemed to be whipped away and we were left to pick ourselves up and start again.
Finally, Ollie and Amelia were both accepted onto a compassionate use programme after we travelled to Paris in search of answers. Throughout this journey, it has become our mission to not only fight for our own children but to also help other children affected by this devastating disease.
Thankfully, it was agreed five other children were also granted the treatment. Unfortunately our little boy, who used to run around playing football like any other healthy child, sadly lost his ability to walk during this time.
Ollie, who used to sing at the top of his lungs, lost his voice. He also had a feeding tube inserted directly into his stomach. He had lost so much already.
To receive the treatment, Ollie and Amelia had brain surgery to insert an access device into their brains.
Although it was incredibly hard to watch both our children go through surgery, we knew we had to give them this chance. If we didn't, we knew we would have to stand by and watch while this awful disease took over their tiny bodies. No, we couldn't do that.
We will never forget the first time our children were given this pioneering treatment. It was like watching a miracle being performed. The treatment is administered via a brain infusion over the period of four hours. Our children are incredible. This treatment is the first of its kind and Amelia in herself is a first.
Amelia is one of the youngest children in the world to be receiving this treatment but yet more importantly, at the age of five, she should be experiencing the full effects of this disease. Instead, she is thriving.
She attends mainstream school, she can run, dance, play, speak in six word sentences, she can mark make [experiment with scribbles and patterns] and can count to 10. She does not experience seizures.
Not only has the treatment stopped the symptoms of the disease in Amelia, it has also given her the ability to learn new skills. Amelia can be a normal, healthy, happy five-year-old because of this treatment.
Ollie's seizures have stopped, he is no longer in pain and at the age of seven attends a mainstream school. His quality of life has improved dramatically. Every difficult decision we made to get to this point was completely worth it.
This treatment is FDA (US Food and Drug Administration) and EMA (European Medicines Agency) approved, it is licensed and available for use in America and other European countries.
However, the National Institute for Health and Care Excellence (NICE) have made a recommendation that NHS England does not fund this treatment here in the UK. We are now working tirelessly with the BDFA (Batten Disease Family Association) and health professionals to get this decision overturned.
Ollie and Amelia are living proof that the treatment works and provides them with an amazing quality of life.
If the treatment is not approved, then our children and others like them will deteriorate dramatically until they are completely bedridden and Batten disease will take their lives during early childhood.
The treatment is there, the treatment is working, the treatment needs to be administered so children with Batten disease can experience a happy, healthy life - like Amelia and Ollie currently are.
We have attended meetings with NICE, NHS England, the BDFA and the pharmaceutical company BioMarin to continue the discussion towards recommending that the treatment is funded.
It is both physically and emotionally exhausting but a process we know is extremely critical and may just lead a pathway for future children diagnosed with Batten disease.
While we wait for these meetings to progress, there are currently children dying waiting for the treatment. It is utterly heartbreaking that these children are currently being denied any treatment.
Ollie's Army Battling Against Battens - olliesarmy.co.uk - was set up to raise much-needed awareness of this incredibly rare genetic life-limiting neurodegenerative disease. You can find out more about Ollie's Army by visiting our Facebook site.
Early diagnosis is key. The earlier children are treated the greater quality of life they will have. We invite you to sign and share to help challenge the decision made by NICE and provide treatment for children with Batten disease.