I have methylmalonic acidemia (MMA) by Oliver, 16
"I have never known what it’s like to live without methylmalonic acidemia (MMA). Mum told me that for the first seven months after I was born, I wasn’t really doing well.
"I was vomiting a lot and went into hospital for tests. It was thought I might be a bit refluxy and would grow out of it. It seemed to settle down, but we now know that was only because I was weaned off formula and breast milk and went on to vegetable things, so my diet became lower in protein.
"When I was 12 months old, I had tonsillitis, didn’t eat much and became very ill. I started to vomit, got very tired and was breathing really quickly, so I was taken into Reading Hospital and then rushed to London. Mum says the person who was dealing with me from GOSH was fantastic. It was Dr Jane Collins, who until recently was the Chief Executive. Back then, she was our consultant for the first four years. We’re totally indebted to her, she was brilliant.
"MMA is very rare. There is no cure but the doctors are getting better at managing it. Previously, there was little knowledge in terms of management, so there aren’t very many old people with it.
"It’s a disorder where the body isn’t able to process protein properly, which means I have a low protein diet and take lots of medication, vitamins and mineral supplements. If I ate a normal diet, I would be getting too much protein, which would start sending toxins round my body.
A special diet
"Most children with my condition hardly eat. They have a tube going into their stomach to give them food. Although I have a healthy appetite, I can only have a very narrow range of foods. They tend to be prescription products and my mum says it’s a bit like being on a Weight Watchers diet, or something like that. You learn the protein values in certain foods and I’m now in a transitional phase where I’m learning to count so I can manage it myself without my parents having to watch over me as much.
"If I become unwell with a viral infection or a cough or cold, I immediately start to vomit. This means I can’t tolerate anything, and that’s when I’m most at risk of becoming metabolically unstable as my body starts to draw on my protein reserves.
"To confuse my body into not doing that, I have to drink a carbohydrate solution, which is difficult to do if you’re vomiting. I usually end up going to hospital to have intravenous fluids. I just sit there until the thing starts to pass and then they gently get me back to my protein allowance. I can cope with your average bug, but beyond that I don’t know.
"Although my body can’t tolerate too much protein, I still need enough to grow, and all that’s done by going to GOSH every four to six months for check-ups. I wouldn’t be alive if it wasn’t for them.
"When we visit we make a day of it, seeing the kidney team, the metabolic team and then we meet with the dietician. They look at my blood and amino acids to see if they’re stable and then they’ll increase the protein to fit in with what I need to grow normally.
At home and at school
"Obviously it’s all quite restrictive and that’s a problem for school trips and things. You’ve got to notify local hospitals in advance and normally get GOSH to fax my regimes and things through so I can get treatment quickly if needed. I can’t go on school trips abroad – it would be too difficult for the school.
"Also, I take packed lunches to school, and when we go to restaurants, Mum has to phone ahead to explain. When we go on holiday, we have to take a load of food with us, so I can’t stay in a hotel. It does restrict the type of holiday we go on.
"My family cope really well. They couldn’t do anything better to adapt, they’re incredible. But MMA really isn’t as bad as you might read on the internet.
"I’ve been to the British Grand Prix. I’d always said to Mum and Dad that I really wanted to see a Formula 1™ race, and when we came to GOSH someone showed us a poster. We filled out an application form and I got selected. I was over the moon. We went on a garage tour and I met drivers Sebastian Vettel and Mark Webber. It was fantastic.
"I’ve got an autistic spectrum disorder as part of the condition, which leaves me with some learning difficulties. However, I try and take the positives from the situation. For example, this means I’ve got a statement to avoid queuing when I visit theme parks, so I can go on rides straight away. It’s a perk.
"You do have a lot of limitations when you’ve got MMA, but as a result of having limitations, you try and achieve what you can within that. You try to make the most of what you have got rather than knowing there are a lot of things you can’t do. I struggle academically despite working really hard at school. But equally, I find music really easy. I’m working towards my Grade 7 piano, Grade 5 trombone, and I’m a member of my school, church and local orchestra. I even sang at the Royal Albert Hall earlier this year. I love music and want to pursue a career in it.
"In all, I try to be as positive as I can because I know MMA’s going to last me for the rest of my life. So I just try to be as positive as I can."