On 28th April 2024 I am walking the Kiltwalk in aid of my stepson Sam, and the charity (The Freya Foundation) that supports him and others with the same life-limiting condition, Pyruvate Dehydrogenase Deficiency (PDHD). PDHD is a rare genetic mitochondrial disorder that is often fatal in early childhood. Those with the disease have neurological symptoms and neuromuscular degeneration that usually gets worse as the disease progresses. People with the condition are unable to process carbohydrates in the ‘normal’ way as it leads to a build-up lactic acid, which if left untreated can be fatal. In order to try and avoid the lactic acidosis from carbohydrate ingestion, PDHD sufferers are usually started on the ketogenic diet which allows them to get their energy from fats instead of carbohydrates. Sam first started the ketogenic diet about 12 years ago, but this was only after his mum researched and fought for it, as it wasn’t recognised by many clinicians as a valid way of treating PDHD. Now, following more research which has resulted in a better understanding of the condition, it is often one of the very first things they do once they have a new diagnosis of PDHD. A change in the diet recommended for PDHD sufferers might not seem like much progression in 12 years, but, it really is. Without this diet Sam would more than likely not be with us today! Imagine how much more could be achieved if there was a group fighting specifically for these patients – this is where The Freya Foundation come in. The charity is named after a little girl who, like Sam, has PDHD. They are the only dedicated PDHD charity in the UK and act as a point of contact for patients and their families. They offer so much support in people’s darkest hours and the community that they have helped to form and support is invaluable to the PDHD families. Not only that, they are the only charity in the UK who are actively funding research into future treatments, including gene therapy, for patients with PDHD. The hope is that one day a treatment will be available that at least stops disease progression meaning that if it is administered early enough before any/too much damage is done, then individuals will be able to live a more ‘normal’ life. This is why I am proud to be walking the Kiltwalk for The Freya Foundation. I want to try and give back a little as a way of thanks for all the support that they have given to Sam and our family over the years, and the hope that they give us for the future.

Sam is my inspiration and thoughts of him will get me through each of the 23 miles as what he achieves in the face of adversity is amazing, and he does so with such a great attitude and a big smile (well most of the time – he is now a teenager after all!).

If you would like to support me, Sam and The Freya Foundation then you can donate via this Just Giving page by clicking the blue "Give Now" button. All money donated will go to The Freya Foundation to support the amazing work they do.

Thanks,

David