Interview with Lucy
Lucy Carroll speaks to us about Batten disease, a very rare disease which is affecting her family in a huge way. Two of her four children have been diagnosed with the disease and she is currently battling with NICE to get a very effective, yet expensive, treatment available on the NHS.
Background to disease:
Batten disease is a fatal, inherited disorder of the nervous system that typically starts in early childhood. Early symptoms can be subtle, typically starting around the age of 3 when carers and doctors potentially notice slower than average speech development and clumsiness or stumbling. By the age of 5 these symptoms have progressed to seizures and vision problems and over time families can expect to see gradual loss of use of their child’s limbs, worsening seizures, progressive loss of sight and motor skills. A gastrostomy tube is often required and the impact on the child’s life and the family is overwhelming. For the type of Batten disease described in this interview (CNL2) the average life expectancy is just 10 years.
In the face of this, Lucy is an extremely charismatic, positive, determined young woman with four beautiful children, two of whom, Ollie 7 and Amelia 4, have Batten disease. Her older children are clear, but are still affected by the impact of the disease on the family. In the early days, it was the worry whether their parents would be home when they got back from school (depending on whether Ollie had had a bad seizure). Now it is the fortnightly trips down to Great Ormond Street Hospital for both Ollie and Amelia’s treatment (pending NICE approval the pharmaceutical company BioMarin are continuing to pay for the children in the UK to receive the very expensive treatment). Along with her husband (Mike) Lucy has set up Ollie’s Army, aimed at raising awareness for this rare disease. Recently their positive attitude and vocal stance ensured their place as parent representatives on the NICE committee hearing for treatment approval. They are currently pulling together vast amounts of documentation for a March 5th deadline, a very daunting, stressful and important task, on top of the daily care all their children need, working and raising awareness.
Lucy was interviewed on 27th February 2018 about her experience with the disease, family life, experience on the other side of the pharma fence as a patient/carer and the NICE approval process.
Hi Lucy, so how did you first become aware that something might be wrong with Ollie?
Ollie was born completely healthy. It was during a routine health visitor check up in January 2014 when we talked about his delayed speech and clumsiness. He was always falling over his feet and other stuff. But the health visitor also said “oh boys are clumsy and the speech is nothing to worry about at this stage”.
In September 2014 he had his first seizure. He was in the bath at the time and his Dad had to give him CPR.
That must have been really scary.
Yes it was, neither of us had ever had to cope with anything like that before and Amelia was a little baby and the two older boys, Danny and Mickey were there too and saw it happening.
When we got Ollie to hospital, the doctors said it was a febrile convulsion, but of course it wasn’t and the seizures continued. Ollie was sent for tests and the conclusion was that he had generalised epilepsy, the doctors said he would be fine. The seizures didn’t respond to the medication so we pushed for more tests and he was sent to a neurologist.
Ollie was still OK at this point (apart from the clumsiness and speech delay) … typically he didn’t fall over once when we were in her office! The Neurologist sent him for tests anyway and an MRI scan, which was when we discovered his cerebellum was smaller than it should have been.
In February 2015 they received the diagnosis of Batten disease and it floored them.
How were you told the news?
When the test results came back we were sent a message to come in 2 days later and to bring Ollie, so in my head I was thinking it can’t be too bad otherwise I would have been rushed in. We knew they had been testing for around 5 things and of course we had googled them all, we were worried it might be a tumour because in our minds there could be nothing worse than that. We were told it was Batten disease, that there was no treatment, no cure and to just go home and spend time with Ollie. They gave us a leaflet about it, and that was it.
When we got home we were obviously in complete shock. But after a while we thought there is no way we can just sit at home waiting for our son to get worse and worse so that’s when our research started.
We found that there were studies being done at Guy’s and St Thomas’ in London and we contacted the experts there to find out more. That’s when we found out it was genetic and we were advised to get our older two boys and Amelia tested also.
On 30th March they found out that Amelia (2 years old) also had Batten disease.
Again completely devastating for you…
Yes we were completely devastated but we were more determined than ever to find out what we could do, which was when we came across some trials for gene therapy taking place in the US and because most children on the trial were not as well as Ollie and Amelia, they were very keen to have them on board. This was when we found out that Great Ormond Street was also doing a trial and of course the disruption to family life would be lessened if we could get them on this trial. It took 21 months of sustained effort with help from the BDFA (Batten Disease Family Association) because the trial had already been closed a month earlier and they weren’t accepting any more children. The pharmaceutical company agreed for the children to have access on compassionate grounds and they actually opened treatment up for 5 more children at this stage.
The term Patient-Centric is used a lot in the pharmaceutical industry, do you feel that this is a fair use of the term in your experience?
Well, you know what, at the beginning, it was really, really hard to get on the trial and it’s a battle, right when you don’t need it, but I have to say once we were on the treatment, they have been amazing and the human aspect has definitely come through.
So how have the children been responding to the treatment over the last 18 months?
So the biggest, starkest evidence that the treatment is working can be seen in Amelia. She is 4 now, running around, going to tap lessons, dancing, scootering in the street, just like a normal 4 year old. Ollie at this age had lost the ability to walk, and only had a couple of words left. Ollie by 5 couldn’t walk, by 6 he was completely dependent, fed through a gastrostomy and was having seizures every day. Now in the past 18 months he has had 1 seizure, the disease has slowed right down, and he is stable. The evidence is not as dramatic as Amelia because he was older and more advanced when he was first treated, however in terms of quality of life it is very, very compelling. His quality of life has improved immensely. The seizures and stiffness in his joints were very distressing and painful, now he is pain free, he goes to school, he can chew and swallow and he goes swimming every week.
How does the treatment work?
The children are not producing the correct enzymes to clear all the toxins and build up in the brain that healthy functioning body systems create naturally.The treatment replaces these enzymes via infusions through ports in the head. What they are finding is that when treatment is received in younger children, it seems to stop the disease in its tracks (as we are seeing in Amelia) but of course we don’t know, and the long term evidence is not there.
So, how did the NICE representation come about?
The BDFA really wanted us to get involved because we have done so much to raise awareness, we have two children on the trial and we felt extremely privileged to be asked to be a part of it.
What kind of experience has it been?
I honestly thought it would be set up something like the x-factor, with a small panel (laughs), but no no no! There is a panel of 18 plus doctors, NHS England, Pharma Company representatives and a public gallery (where there were about 30 people watching). It was a very very stressful experience. Each time you wanted to speak you needed to make a request and there was never enough time to get your full point across. I still feel privileged though because not all countries allow families the freedom to get involved in this way.
NICE are currently saying that the treatment your children are receiving is not a good use of money for the NHS. They are saying that it is too expensive. This must be incredibly frustrating?
It is; we are fortunate in that BioMarin have said that they will continue to pay for the treatment whilst NICE are taking the decision whether to fund or not. The main objection is the price, and yes you could say that the cost of the treatment is too high (estimated at around £500k per child per year), and yes there is potentially a compromise to be had, however I can see that if the cost is driven down too much, they (BioMarin) can’t carry on doing all the good research they are doing. And they are really helping these kids.
We have until around June time and then the future is completely unknown for us. If NICE say no, we can appeal, but we don’t know what will happen to the children’s treatment at this point, it’s not something they can come off and go on again.
How many children and families are we currently looking at improving the lives of if the treatment is approved?
There are currently 11 children on the treatment (that BioMarin are paying for) plus 2 that can’t access it.
How has all this taken it’s toll on you Lucy?
(Laughs) I am knackered. I was speaking to my sister the other day, we shouldn’t have to be doing all this, the treatment is working but it all rests on the fact that NICE are worried about long term evidence. They won’t be able to get that, because of the nature of the trial. The FDA licenced the drug in April 2017 and the EMA in May 2017. In the US, the doctor writes to the insurance company to explain the situation and in some cases just 16 days later the child is in hospital for surgery to have the port inserted into their head.
What do you think the outcome will be, do you have any idea from the process so far?
We have had amazing help from BioMarin, the Doctors themselves, The BDFA and we are getting legal advice shortly to help us understand what we can do if the decision doesn’t work in our favour. I just can’t read them (NICE). The report is so negative, they discuss funding the healthier children and not the sicker ones or there has been talk of having start and stop markers in place for the treatment, but how hard will that be to make the call to pull the treatment and let a child deteriorate? NICE concentrate on the quality of life, but Ollie’s quality of life is so high now, all the seizures have stopped, the joint stiffness and pain gone, plus all the other improvements I mentioned before. I question the argument, it seems they are saying that all people in a wheelchair don’t have quality of life here’s what the treatment has done for Ollie: yes he is in a wheelchair, but, it has brought him to a state of peace, stability, pain free, calm living, and Amelia is a fully functioning, happy, dancing 4 year old. That is quality of life.
There is a 7 year old boy who is on the treatment, he started it early like Amelia, he is still running around and there are children who have passed on who were not on the treatment. There is no question of the quality of life.
The quality of life extends beyond the affected children to the family too. Our older children are now able to go to after school clubs, play football, have their friends over. They are confident, have stability and know that their parents will be home after school and not in the hospital dealing with another seizure. They are however starting to get anxious again, knowing that the NHS and NICE might say no. Being 11 and 9 they understand everything.
All the processes are being put in place as if it is going to go ahead. Manchester Children’s Hospital sent a nurse down with us last time we were at Great Ormond Street to learn how to use the port. The Doctors have been amazing, it’s because they know it works.
Lucy and here family will continue to raise the awareness of the disease and will submit as much evidence as possible for the 5th March deadline.
If you would like to support Lucy, her family and families just like them in this process, please sign the petition