Who we have supported?
My name is Laura I am 33 and suffer from mitochondrial disease RRM2B. I was born a healthy 6lb 1oz and carried on being well until I was 8 when I started having trouble with my hearing. I struggled at school and at the age of 9 was offered a cochlear implant. I carried on in mainstream school and went to college where I gained a distinction in IT. At 17 I went in for a hearing infection and struggled to come round from the anaesthetic. They thought I had myasthenia gravis so I had a plasma exchange, but my neurologist knew it was something different.
He knew of a Professor Turnbull who specialised in mitochondrial disorders so arranged for me to go to Newcastle where I had a muscle biopsy, which confirmed I had mito but not what kind. It wasn’t until 2018 I found out I had RRM2B, which affects me in many ways. I am profoundly deaf, it affects my muscles, mobility, fatigue, respiratory, and swallowing. I had a peg fitted in 2007 because I couldn’t keep weight on and I’m now fed in this way.
Recently in the last year I have struggled to stay well and had numerous hospital stays. I am now on home ventilation, and assisted coughing which I hope will keep me as well as expected.
I like to knit and love watching TV. My computer was my life line and the support groups for mito really helped but recently I’m to tired and get very anxious to look at it for long.
I live with my mum and dad who I couldn’t do without, and I have a brother who is perfectly healthy and a cat called Lola.
I would just like to say a really big thank you to the Charlie Gard Foundation for there very generous gift of a Riser Recliner chair, and specialist bet, that were bought for me after coming out of ICU as I was struggling to get up. They will help me immensely at home. Steph was brilliant at answering our emails, listening to us, and for being there. And to Connie for a lovely phone call to my mum to see how I was and to see if they could help in any other way. I will be forever grateful.
Laura, who lives with mitochondrial disease