Kays End2End Challenge

On 1 January 2022 I took on the End2End Challenge to walk virtually from John O’Groats to Lands End in 12 months and to raise funds for Pitt Hopkins UK.

Three years ago, Imogen (Immy) at the age of seven was diagnosed with Pitt-Hopkins Syndrome. Immy is Paul’s granddaughter and I love her as much as if she was my own flesh and blood. She is cheeky, smiley, crazy and loves a good giggle. Immy brings sunlight with her wherever she goes. Before diagnosis, it was a worrying time for the immediate family not knowing what is going on with their child and can often have an impact on siblings as each child has different needs.

Pitt-Hopkins syndrome (PTHS) is a rare genetic syndrome caused by mutations in or deletions of the tcf4 gene. As PTHS is so rare it is difficult to find out exactly how many people have it. It has been suggested by one geneticist that the number of people with PTHS is likely somewhere between 1 in 225,000 to 1 in 300,000. It is thought that there are about 300 cases already diagnosed in the UK. This fits more with the latter estimate of about 4 in about a million!

Pitt Hopkins UK aims to raise awareness of Pitt-Hopkins Syndrome, particularly among the health professionals, to support and advocate for families while delivering the latest information about Pitt-Hopkins syndrome. Pitt Hopkins UK also hopes to be able to fund some research one day particularly into the breathing anomalies that many of the children and adults exhibit and into the dysfunctional autonomic system that affects many of the children in different ways. Pitt Hopkins UK is a registered charity with the Charity Commission (no.1167153) and more information can be found on their website: https://pitthopkins.org.uk/

I am hoping to raise £874 as I shall be walking 874 miles from John O’Groats to Lands End. As at 16 September I have already walked 731.49 miles with just 142.51 miles to go. It has been more challenging than I expected but it is a challenge which only lasts 12 months. For Immy and others like Immy and their families, their challenge is for a lifetime.