“Harry was my first child, and when he was born everything seemed fine. I had a normal pregnancy and birth, but when Harry got to about four months old, he wasn’t hitting some of the early milestones. At first I wasn’t too worried, but when he got to seven months and still couldn’t roll over, I began to get more concerned. I took him to my GP, who couldn’t see anything obviously wrong.
The other thing worrying me was that Harry had started to become increasingly unsettled. It’s hard to imagine now, because Harry is the happiest boy you could ever meet, but as a baby he was always crying. I knew that all babies can be hard work, but this felt different – we used to jokingly call him Mr Screech.
Around the same time I noticed he was starting to make these strange involuntary movements and fling his arms back. I told a health visitor about it, but they reassured me that it was probably just a reflex and he’d grow out of it.
Just after I returned to work, when Harry was ten months old, he had another episode, flinging his arms and moving in a really strange way. This was more severe than previously, and I knew something was wrong. I immediately phoned 111, and they told us to take Harry straight to A&E. That was when things got serious.
Seizures and a suspected diagnosis
On arrival at Bristol Children’s Hospital, a specialist in infantile spasms who happened to be on shift immediately identified Harry’s movements as a seizure. We knew then that we were looking at a form of epilepsy, and Harry was admitted for various tests and MRI scans. He was in hospital for about 10 days. Luckily my work were very supportive, which helped a lot, but it was a very scary time and all a bit of a blur now.
The consultant told us early on, before any muscle biopsy had been done, that he suspected Harry might have mitochondrial disease. I’d never heard of it before, and it sounds crazy but I remember getting home from the hospital with my dad and wanting to look up the condition online, but neither of us could remember what the word was. All we could remember was that it began with an ‘m’.
Although we had a suspected diagnosis, nothing was confirmed. It was hard not knowing anything for definite, but I learned quickly to live in the ‘now’ and try not to worry about the future. It helped that the doctors had been able to get Harry’s seizures under control. Once he was on his medications, it was like a light had been switched on inside him. Up until then he’d been in his own little world, but now he was suddenly engaging, which made a massive difference.
No treatment, no cure
Harry was 22 months old when we got the confirmed diagnosis of Leigh’s disease. We’d moved back to Essex, which is where I’m from originally, and his care was transferred over to Great Ormond Street Hospital. Getting the diagnosis was really, really hard. They’d identified the precise location of the mutation in Harry’s DNA and it was a severe one. Of course I did what most parents would do and looked it up online, which gave a picture of doom and gloom, with no cure or treatments. However I do feel lucky now that Harry was able to receive a firm diagnosis relatively quickly.
For me there was nothing to do but crack on, to go back to work and try to help Harry live as normal a life as possible. I wrote an email to everyone I knew who cared about Harry to explain the situation. I knew people needed to know what was going on, but at the same time I didn’t want to be bombarded with questions. So I let people know that Harry had Leigh Syndrome, a form of mitochondrial disease, that there was no treatment for it, and that I needed time and space.
I’ve never been very good at accepting help, but having Harry has made me realise it’s ok to ask for support. I was fortunate to have a really close friend with a child around Harry’s age who also had complex needs. She was a little further ahead on her journey, and having her to talk to was really helpful. My instinct was to bury my head in the sand, but my friend would gently point me in the direction of support. It was through my many conversations with her during those early days that I contacted the Little Havens Children’s Hospice and eventually found The Lily Foundation. I will forever be grateful to that friend, and to The Lily Foundation, for being there at what was a sometimes dark and scary time.
Finding support – and giving something back
The Lily Foundation have been a huge source of support and friendship over the years. We normally go along to the Lily Family Support Weekend, which is always brilliant. Harry has two younger sisters who don’t have Leigh’s disease, and when I tell them we’re going their faces light up. It’s so special and I’ve met a couple of families through it who live quite close by, and we meet up once in a while. So it’s been a good way of getting a bit more connected and not feeling like you need to do it all alone.
Lily also has a Facebook group for parents, and through that I met another mum with a son who has Leigh Syndrome whose mutation is exactly the same as Harry’s. I contacted her and amazingly she lives only about 15 miles away from me! It was really good to meet her, talk and be able to relate to each other’s experiences.
For me it’s important to give something back. For the last few years I’ve set myself an annual challenge in support of either The Lily Foundation or Little Havens Children’s Hospice. Last year I did the virtual London Marathon for the hospice, and before that we did the 3 Peaks Challenge for Lily. We were a big group, all wearing Lily t-shirts, and wherever we went people asked what we were doing, so it was a good way to raise awareness. I’m really missing having a challenge to focus on this year – maybe I could manage a half marathon for Lily!
Living for the now
Harry will be 13 soon, and his health is the best it’s ever been. For the last two or three years he’s been very happy, stable and doing well at school. We struggled for years to get his epilepsy under control, but right now he’s in a really good place with it. His other symptoms are very low muscle tone, which means that although he can sit and crawl, he’s unable to stand, walk or bear weight independently. He has a special lycra suit he wears that provides some extra support and I have a lift in my kitchen so he can access his bedroom in his wheelchair.
Harry is totally non-verbal, but he can understand pretty much everything. He’s a real character, very cheeky and always making us laugh, whether he’s giving his carers the run around or happily filling his hair with sand when we’re at the beach. Sometimes I almost forget the severity of his condition; then something makes me remember and that can be difficult. I know the situation, but I just try to focus on the now and making the most of what we have.
Harry has touched the lives of so many others with his twinkling personality. He’s taught me more about myself than anyone else has. Life is busy and at times complicated but the main thing Harry has taught me is that all you really need is love and time.”