Run for Refsums

Oxford Half Marathon 2024 · 13 October 2024 ·
I will be running the 2024 Oxford Half to raise funding and awareness for Refsum disease.
Refsum is a 1:1 000 000 genetic disease that causes the permanent breakdown of your senses of sight, hearing and smell as well as impaired mobility. Adult Refsum is a metabolic disorder caused by a number of faulty genes (principally PHYH) which affect the pathway that degrades a plant-derived chemical called phytol which some bacteria found in ruminant animals and fish turn into Phytanic Acid.
In humans, if phytanic acid is not degraded it accumulates in nerves, liver and fat. Phytanic acid is not produced in the body but is found in some foods. Refsum disease can be life-threatening if undiagnosed.
Both my dad and uncle were diagnosed with Refsum disease 20 odd years ago, and have bravely fought the challenges imposed by the disease since while having been looked after by St Thomas' Hospital and the Global DARE foundation.
I will be the first person to run for the Global DARE Foundation and hope that this will inspire others to do the same.
To find out more about the work of this incredible team, please take a look at their website which explains further what Refsums is: https://www.defeatadultrefsumeverywhere.org/
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