Just over 3 years ago my beautiful nephew, Jack, was brought into the world. Very quickly my brother and sister-in-law realised something wasn't quite right when Jack began to have seizures at just 3 weeks old. Not long afterwards Jack was diagnosed with an incredibly rare genetic disorder known as STXBP1. There are currently only 1310 STXBP1 patients known globally.

I have seen first hand just how difficult this is to manage and the impact it has had upon their life as a family bringing up a child with such a rare condition. STXBP1 affects each individual differently and can present with a broad range of symptoms including: seizures, global development delay, speech and communication issues, movement disorders and feeding issues to name a few. For Jack, his symptoms are profound. Unable to swallow and fed by a feeding tube, Jack has global development delay and epilepsy, resulting in daily seizures/spasms despite multiple medication efforts to control them. It is also likely he may never walk or talk.

Jack has his own way of communicating though and loves a cuddle just like me. He truly has melted the hearts of our family and friends and has more love surrounding him than he will ever know.

Part of this challenge of me embarking upon an IRONMAN is to raise awareness of this rare condition, but also raise vital funding for the STXBP1 Foundation to enable them to further their research to find a cure sooner rather than later. Every bit of additional knowledge they gain helps families access more support and better understand the condition, improving the quality of life for both children and adults affected by it.

People with STXBP1 like Jack and many others around the world don't have a choice to do an ironman. They don't have a choice to challenge themselves, instead everyday is a challenge.

I do have a choice and for that I am forever grateful. Choosing to do this to improve the quality of life and support for families caring for and bringing up children with this condition to give them a better chance of finding a cure is a privilege.

STXBP1 Foundation is dedicated to finding a cure for STXBP1-Related Disorders (STXBP1-RD) while improving the lives of their patients and their families.

The Foundation is a parent-led advocacy organisation. STXBP1-RD is a rare neurodevelopmental disorder caused by changes in the STXBP1 gene. With an incidence of approximately 1 in 30,000 live births, STXBP1-RD is one of the most common genetic causes of epilepsy.

They share learnings and efficiencies to increase awareness of this rare, genetic disorder and identify therapeutic strategies. They believe that through their work, they are accelerating the development of significantly improved therapies and ultimately ending STXBP1-RD.

Their mission is simple:

•⁠ ⁠Create awareness in the disorders associated with STXBP1 mutations

•⁠ ⁠Fund and drive research to accelerate discovery of a cure

•⁠ ⁠Provide families with tools to help them understand the disease & how to get involved

•⁠ ⁠Advocate to improve early detection

•⁠ ⁠Foster activism to help change policies in favor of orphaned diseases

•⁠ ⁠Improve the lives of their STXBP1 Family

Thanks for taking the time to visit my JustGiving page.

Any support via donation will be greatly received and appreciated.

Thankyou Rob

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