Can you describe the events that led to Oliver’s cavernoma diagnosis?
He was perfectly healthy and never had a problem with anything, we were just on a day out and we noticed that he was slightly limping and dragging his leg. Obviously we just assumed that he had bumped it during the day out, because we were at a theme park. We never thought anything more of it, but the next day we had planned another day out and Oliver was really struggling to walk. Later that night he started to bite his tongue when he was eating, so the next morning at 7:30 we went to the GP and they knew something was wrong, but wanted to get us booked in to a paediatrician.
That was it then, we came home still not aware that anything was wrong and took him out for the day again. We went to an indoor soft play area and he was playing with our friends’ boys – he was still limping but he was having fun, and it wasn’t until we sat down and started eating that we noticed he was coughing and not eating properly. Again we didn’t think that much of it, but later in the day, despite being fully toilet trained, he didn’t make it to the toilet twice without realising. Within the space of an hour he lost the use of one side of his body. That’s when we got back in touch with the GP, we were hysterical really. He said get to the hospital as fast as you can where they did a CT scan and noticed that he had a bleed in the brainstem – later that night they diagnosed it as a cavernoma.
They told us it was a brain bleed, but I (Emma) have the same condition. I have seven cavernomas which I inherited from my Dad. For us it means that we have epilepsy, so I have seizures and I’m on medication for it. We didn’t even think that Oliver’s symptoms could be linked to cavernoma. It was more stroke-like, so when we were sitting in A&E talking about his symptoms it didn’t click with us until after that it could have been that.
They did the scan and put him on the neurology ward, and then came and told us that it was a cavernoma that they had found, but due to the location of it they couldn’t look at doing an operation – so they kept him in for just under two weeks at this stage.
Could you tell us a little bit about Oliver in general?
It depends whether you mean prior to this or now – he was always a little cheeky three-year-old chappy, climbing on things, running round and being adventurous. Getting into places that he probably shouldn’t be, and he’s always been stubborn. He was always a mummy’s boy, but then when everything happened he became a daddy’s boy overnight. He now gets very angry very quickly, and can also get very frustrated just as quickly. It’s all black and white, there’s no grey area now.
This all happened after his second surgery – now when he talks if you don’t understand him the first time, he gets very frustrated. It’s not anger in a sense of lashing out at people, it’s more internal anger – he gets very upset with himself.
What treatment or surgery has he undergone – and what was the outcome?
In 2017 they tried to manage it with steroids and he was in and out of hospital from August to November. That seemed to work okay, but in October of that year he had another big bleed that required surgery, which they said was a dangerous operation but needed for quality of life.
Through 2018 he did okay, it was up and down but he had another surgery this year where instead of being for quality of life, it was to effectively save his life. He needed it or he wouldn’t be here now. In the first operation they managed to remove 90% of the cavernoma, whereas this time they’ve only managed to get half of it. The first time it grew back with a bit of a vengeance, and the day before the second surgery we saw his consultant who told us he could see Oliver needing surgery again in the future, but we didn’t expect to be back in literally the next day.
He had another surgery in March, as at the moment he can’t eat very well and so is being tube-fed. We have a Percutaneous Endoscopic Gastro-Jejunostomy – or PEG-J – which goes straight into his tummy to feed him.
What does a typical day caring for Oliver involve?
Every day is a challenge, he has medication at 6am, 12pm, 2pm, 6pm and 10pm, and he can’t feel when he needs to go to the toilet, so he’s incontinent. It’s difficult to manage his toilet needs, his medication and due to his brain injury he demands a lot of attention. He really needs attention and gets very agitated when he hasn’t got attention on him – which we can’t always do because we’ve got another son, Connor. Connor also has the gene, but he’s not shown any systematic symptoms yet, so we’ve just got to keep a close eye on him and his development. If he shows any symptoms, we can jump in to gear, because we now know that there are so many other symptoms apart from seizures.
What would you say is the greatest challenge caring for a child with such a rare disease?
In terms of the professional side it’s speaking to somebody who knows what they’re on about – sometimes if you try to explain to them and they don’t know what you’re on about, they almost don’t believe you. You can come across as a paranoid parent, but that’s one of the biggest challenges. There are not many professionals around our area that know what a cavernoma is – we were on the brain injury ward at Nottingham and there was only a handful that knew.
What coping strategies have you developed as a family?
We’ve said before that this is our favourite question, because we don’t have any. We don’t cope as a family, and this is the question that can tend to get us upset sometimes because we take every day as it comes out of pure love for our children and our family, and you just have to go. You just have to do what you’ve got to do, so we just try and be there for each other. I wouldn’t say that we have a strategy specifically.
What do you like to spend your down time doing as a family?
We spend the time playing a lot of Minecraft with Oliver! He’s obsessed with Minecraft, he loves to play at least four hours of Minecraft every day. Obviously because he’s not mobile any more he relies on his iPad quite a lot. We live in a small village and we don’t drive, so it’s like catch twenty-two, there’s not much we can get out there and do, so we like to spend time as a family at home. It’s a military operation getting him out of the house, what with his meds and everything, so we like to stay home and watch superhero and Marvel films as well as playing Minecraft.
What is your greatest hope for the future?
A cure. Cavernoma UK are pushing for “Caver-no-more” by 2030, it would really mean everything to us – the whole world. So that’s our greatest hope for the future, but if that doesn’t happen it would be for Oliver to have a quality of life, and for him to not feel left out. We just really want him to enjoy himself, and for him to be happy.
What advice would you share with other families or patients going through a similar time?
Get in touch with a charity – they’ve been so supportive and absolutely fantastic. Without them we wouldn’t have coped so well, so our advice is to get as much information as you can and definitely get in touch with a charity. Our surgeon, the one who has done both the operations on Ollie, pointed us in the direction of Cavernoma Alliance UK. It was definitely the best decision we made, it made us feel like we’re not alone.
Do you think the depth and quality of information available on cavernoma to the public is adequate?
No. There needs to be a lot more information and research, because we’re an example of how far this can go. Oliver has been knocked for six, as have we. It’s torn at our family tooth and nail, and we never knew much about them – most importantly we didn’t know that they could be hereditary. When Emma was pregnant we weren’t told that it was hereditary, or that there could have been a chance that the kids would get them. So yeah, there needs to be a lot more information for professionals and the public.
You can donate to Cavernoma Alliance UK’s CaverFamilies crowd funder here: http://bit.ly/SummerResidentialCrowdFunder π
