In October 2023, after many years of seeking assessment and treatment for a variety of medical conditions, my son Max was diagnosed with a very rare condition called Proteus Syndrome. There are fewer than 200 known cases worldwide.

It turned out that nearly all of his medical problems were a result of this one condition.

Proteus Syndrome is caused by a mutation in the AKT1 gene, which is important in regulating the growth of cells. This leads to disproportionate growth of tissues, including bone, skin, vascular and fatty tissue.

It can affect all areas of the body, and so Max is seen by various specialists - dermatologists, orthopaedic surgeons, radiologists, and many more.

There are no licensed treatments for Proteus Syndrome at this time, Max is currently enrolled in a clinical trial which involves monthly visits to the National Institute for Health (NIH) in America, with an aim to securing FDA licensing for treatment, and therefore improving his long term outcomes and quality of life.

The charity I have chosen to fundraise for is the Proteus Syndrome Foundation - UK chapter (PSF UK), they have this statement on their website (https://www.proteus-syndrome.org/):

"The Proteus Syndrome Foundation, a non-profit organisation, is dedicated to improving the lives of Proteus patients by funding AKT1 research. We focus on providing family support in the form of education and networking individuals living with Proteus Syndrome with other families and medical professionals."

I have signed up for the Amsterdam marathon in October, and any funds raised will be donated to the PSF UK. I have never wanted to run a marathon and it will be a big deal for me to complete this run, but I do it with the incentive that however hard it is, it will not even come close to the challenges faced already, and those yet to come, for Max and all of the others living with Proteus Syndrome.

Any size donation is really appreciated!

Thank you.

Ben xx