‘Ten amazing humans have signed up to complete the Hampton Court half marathon on March 20th 2022 in support of Arthur’s Quest, most of whom are new to running. This means a merciless training regime throughout the depths of UK winter, blisters, chapped lips, frosty fingers and windburned cheeks. Why are they putting themselves through all that?
Arthur is 5 years old and suffers from a rare neurological condition known only by the gene code SLC6A1. This condition causes a rare form of epilepsy which is extremely hard to treat, autism, muscle weakness, learning disability, speech and language delay/difficulty, behavioural changes and regression and the children require speech therapy, Physio, Occupational Therapy, specialist school provision and endless appointments. The genetic change was found in 2015 and Arthur was diagnosed in 2018. Arthur’s parents tested negative for the gene, and despite that, his baby sister was diagnosed age 1 in 2020. It has taken a year of falling over from drop seizures, facial injuries, a lost tooth and several medication changes to finally get some control of her seizures with a cocktail of anti epileptic drugs. There are currently hundreds of children diagnosed across the globe with this condition, and more get diagnosed every day. Scientists and doctors have taken interest in the speed at which people are being diagnosed, and the spectrum of disabilities experienced by the sufferers. The studies done on the condition to date estimate the condition to affect 1:3500 births, and is the 10th cause of autism and 6th cause of epilepsy.
Parents have rallied together and in the last 4 years, they have work tirelessly to raise money to fund research for better treatments and a cure, and it is working. Data collection and research to treat and cure this disease is taking place at UT Southwestern, University of Pennsylvania, Uplifting Athletes, Gladstone institutes, University of California at San Francisco, Collaborations pharmaceuticles, Cyclia, University of Colorado Boulder, and Vanderbilt University. We currently have 12 children on a drug trial in the US and Europe using a repurposing study for a drug already taken by children for a completely different condition, so far the results are good. These children and young people and their families are suffering on a daily basis. Just when they think things are improving, the children regress and the work starts all over again. A cure cannot come soon enough! This is not shooting in the dark, the science is already happening, the contacts have already been made, but what they do need is money to keep it going, to reach the end goal, before irreversible neurological damage sets in.
So come out and support the team, donate to this amazing cause, warm the runners up with your kindness and your generosity.
It will be appreciated more than you could know’.
Want to know more? Visit www.arthursquest.org and www.slc6a1connect.org