Camilla Metachromatic Leukodystrophy sufferer

Camilla’s story

From a very young age Camilla was an intelligent, outgoing little girl who loved singing and imaginative play. People would comment on her ability to learn, you would tell her something once and she just got it. She was cheeky and little bit bossy, but this would have everyone in stitches as it was always followed with her magical smile.

Camilla took her first steps around the age of one but just couldn’t seem to progress past holding on. She managed some steps independently but we decided we needed to get this looked at after a couple of months and giving her some time. We noticed her feet started to turn in as well which we thought must be causing her issues with walking.

We were lucky enough to be referred to a paediatrician quite quickly. They saw us and were confused, but noticed a slight tremor and eyelid flickering. It was so slight you couldn’t see it if you weren’t looking for it. They knew there was something to find but not sure what. After 18 months of referrals, tests and scans we were still none the wiser. Everything was coming back normal. Camilla in this time did start to become very wary of her peers and started to isolate herself as she couldn’t keep up. Her speech started to sound like it was slowing down. This was heart-breaking to see.

So we were referred to genetics. After a long wait to see them they did a test where they piece together 100 chromosomes. This lengthy two month process changed our world forever and revealed Camilla had MLD. This is an earth shattering diagnosis that we never expected!

At the beginning of 2017, Camilla had three nasty viruses and these we believe kick started her serious regression. By May 2017 she had lost her speech, ability to eat properly and her mobility. Camilla is now fully dependent for everything imaginable, on numerous medicines and fed via a peg.

Just over a year on Camilla has plateaued and has done for a while. She has been in a very stable state most of the time, even making slight improvements. She has worked hard and attends a specialist school. She is still learning and although she has lost her speech she still makes sounds and tries her hardest to speak and sing. Most importantly to us she still has her beaming smile which touches the hearts of whoever she meets. She’s still out cheeky little girl and we make sure her life is full of love and the best in every way it can be. She is happy.