Maddi Thurgood is the only person in the UK diagnosed with SPG-15 and is one of 100 worldwide. News Medical spoke to Maddi's mum and CEO of the Maddi Foundation, Carina Thurgood, who continues pushing to raise awareness of SPG-15. 🧬 Read more:
Jul 3 2023Reviewed by Lily Ramsey, LLM Thought LeadersCarina ThurgoodCEO of The Maddi FoundationThe Maddi Foundation News Medical spoke to the CEO and founder of the Maddi Foundation at the Charles River Gene and Cell Therapy Summit to gain a patient perspective on the impact gene therapy research can have. Maddi Thurgood is the only person in the UK diagnosed with Spastic paraplegia 15 and is one of 100 worldwide.
Spasitizin interacts with the protein spatacsin and a complex containing AP5Z1, all of which are vital in the function of endosomes and lysosome homeostasis. Mouse models have shown that mutations in the ZFYVE26 gene lead to an accumulation of vesicle-like structures, which leads to the degeneration of nerves and causes typical symptoms of neurodegenerative diseases
The reason I'm here today at the gene and cell summit is that my teenage daughter, Maddi, developed an ultra-rare illness when she was 15. Because it's so rare, with her being the only one with the disease in the UK, it was up to me as a mum to try and find someone to help her. So, I began raising funds to facilitate research into the disease, and while raising funds, I thought, "Well, I might as well start a foundation." And that's where the Maddi Foundation came in.
We were told about the symptoms, which include paraplegia, quadriplegia, and juvenile Parkinson's disease. We were honestly just heartbroken and confused. What was even more heartbreaking was being sat down and told that there was no treatment, only symptom management. Maddi speaking on ITV interview about her journey with SPG15 -Hereditary Spastic Paraplegia 15Play 4. What is gene therapy, and how important is it in potentially preventing or treating neurodegenerative diseases like spastic paraplegia type 15 ? SPG-15 is a recessive genetic disease, so it's ultra rare. As such, there is no treatment for SPG-15.
Related StoriesI reached out to many institutions; I tried to find someone who might be interested in us and SPG-15, who would spend a little time looking and researching possible treatment routes for Maddi. These events also help us raise awareness of a condition that most people reading this won't have heard of.
A study undertaken by Boston Children’s Hospital in America launched an international registry for the natural history of SPG-11 and SPG-15 patients, with 33 cases recorded globally. From a personal perspective, when you are in a situation yourself, I have a daughter who's not very well, for us these advancements need to come soon, most likely it's not going to be soon enough to possibly save a lot of her.
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