’Leap of Faith’

I will be jumping out of a plane over the Scottish countryside on the 4th November, 2017 to raise funds for the cause of SPG15

Our Josh was diagnosed with an extremely rare disease called SPG15 otherwise known as Spastic Paraplegia Gene 15. This was only discovered earlier in the year when it was noticed he was struggling to walk. Josh had to endure countless hospital visits and investigations before the cause of his mobility decline was uncovered.

SPG15 is classified as a motor neuron disease but it is very rare in fact at present it appears Maddi Thurgood is the only case in the UK, and it is thought to be a possibility of less than 20 people in the world with this disease type.

It is a progressive autosomal recessive disease which means that both parents have passed on a mutation to the ZFYVE26 gene causing Spastic Paraplegia type 15.

It is known to develop paralysis in all four limbs and also causing abnormalities in the brain. In addition if affects the peripheral nervous system impairing vision and hearing, it can also bring on early juvenile Parkinsonism. At present there is no cure!

Having recently found each other thousands of miles apart, Josh and Maddi’s families have joined forces to fundraise for Gene therapy development, and to raise awareness of the condition. I had the privilege of joining them both on a trip to Sheffield University of Neurosciences (SITRAN) to meet Professor Azzouz and his team who are currently researching the condition to develop a gene therapy strategy. The visit was both fascinating and encouraging. Unfortunately due to the limited patient representation, financial support for the research program at this stage needs to be funded by the families, until such a time that external funding can be accessed.

It was difficult to hear Josh and Maddi’s parents describe how quickly this disease has progressed and the impact it has on everyone involved. It demonstrates the urgency to advance the research further.

All generated funds will be passed on to the saveourmaddi fund which is run by Carina Thurgood, Maddi’s Mum, who is working closely with the team in Sheffield. She has already fundraised over £100000 to begin the Gene Therapy research. However we need your help to continue the good work. At this time £85000 is needed to fund the next stage of research.

GET INVOLVED

Every penny counts. Your generosity will fund vital research and treatment efforts in the hope of not only stopping progression of SPG15 but also finding a cure. This will open the doors hopefully to help other similar orphan diseases.

For more information visit

www.saveourmaddi.co.uk