For my 70th birthday I am taking on a 5 day wild camping/SUP expedition in support of the Malan Syndrome Foundation. Malan Syndrome discovered in 2010 is caused by a mutation of the NFIX gene. Our genes act as the instruction manual for our body to make the proteins required for it to function. In easy terms there is a small spelling error in the persons instruction manual, which means they do not produce enough of a specific protein that is important for brain and muscle development. There are only around 350 people diagnosed with Malan syndrome worldwide and one of those is my nephew’s son Ben.

At just 6 weeks old Ben had a cardiac arrest and required resuscitating. Before the age of 2 he had 12 hospital inpatient admissions and was consistently in and out of the NHS system with varying concerns around breathing difficulties, infections, hearing and sight problems, low muscle tone and fast growing head circumference and not meeting the usual milestones. Finally, 4 years later he had a genetic test and a diagnosis of Malan syndrome which tied all Bens challenges together.

While Bens early years have been tough he is a source of inspiration and joy. Although he is unable to communicate with many words, through Makaton, signing, a few words and some very elaborate charades he is making his way in this world. He loves dancing, dogs and his friends and family.

The Malan Syndrome Foundation does brilliant work to discover more, as well as to support families and raise awareness. Your donations will fuel scientific research to advance understanding and explore pathways to treatments and maybe one day- a cure.

Please visit www.Malansyndrome.org to learn more.