Maddi Thurgood 16 years old from Essex was diagnosed with a degenerative neuro disease called SPG15 (Spastic Paraplegia Type 15) in 2016 at Great Ormond Street Hospital. When she was 13 she starting walking with a very mild limp which was not very noticeable at the time and when we saw our GP they put it down to a growing issue. After many months of pursing other specialists she got referred to Great Ormond Street who then came to the conclusion she may have a lysosomal disease, but after further tests and visits to more specialists it was found that she had a type of motor neuron disease which is caused by a faulty recessive gene passed from myself and her dad. We were told that it is extremely rare and it appears that Maddi is the only one in the UK with this illness. To date there is no known cure!
The symptoms for SPG15 cause paralysis to all the limbs with progressive brain abnormalities resulting in loss of nerve cells, visual impairment and possible juvenile Parkinson’s. Basically the symptoms will be pretty severe as time goes on.
Maddi’s walking is deteriorating quite quickly but she is willing to carry on fighting until a cure is found.
Sheffield Institute of Translational Neuroscience are working on a Gene Therapy target for SPG15 right now. This involves developing a viral vector which is capable of delivering a good copy of the gene to the central motor neurones. This could halt the disease. BUT it comes at a price, unfortunately for such rare diseases like SPG15 there is not enough funding, so therefore we have to continue to rely on public help to fundraise and support this research for a cure.
As Maddi is showing progression it is distressing to watch her suffering. At 16 she should be free to go and enjoy life to the full but already this disease is starting to destroy her future. Look at her lovely smile I can not bear to see it disappear.
SPG15 is a horrible wasting disease and will rob Maddi of life at such a young age.
Thank you so much for taking the time to read our story and any support that can be given is so much appreciated.