In February 2020 we received a heartbreaking and unexpected diagnosis for one of our twin daughters, Daisy. We were given the news that she has a rare genetic disease called Phelan McDermid Syndrome, which is caused by a deletion in chromosome 22. She was diagnosed at 20 months old after a long battle trying to find answers for why our little girl was falling behind on so many things.

Phelan Mcdermid Syndrome causes a wide range of challenges for each individual and they vary in severity and can change at any time due to common regressions associated with this disease. Some of these challenges include global developmental delay/intellectual disability, fine and gross motor skills difficulty, low muscle tone, feeding difficulties, severely delayed or absent speech (95% of those with PMS are non verbal) autism spectrum disorder, lymphadema, seizures, sleep disorders, decreased perception of pain and minor dysmorphic features. All people diagnosed with PMS need additional care to support their daily lives for their entire life. 

Our Daisy is a happy bright little girl, who is full of laughter and love. She makes every room she walks in to light up when she starts her infectious belly laughing. Daisy has just started nursery and is beginning play, speech and hopefully soon occupational therapies to help her develop skills. She is currently non verbal and non communicative but it coming on in leaps and bounds with her physical mobility. 

There are just over 2600 people in the whole world diagnosed with Phelan McDermid Syndrome and around 150 in the  UK so we want to raise awareness for Daisy and for all of those who have PMS as before we received the diagnosis we had never heard of it either! We are also finding all of Daisy’s doctors and health care professionals have also never met anyone quite like her which can make helping her with difficulties, illnesses etc. More challenging.

We want to spread the word and raise awareness about this rare genetic disease. The fact that you are here and reading about it right now means that there is one more person in the world who knows about it and can tell other people about it too! The more awareness, the more hope their is to finding a cure and making sure that our little girl and others with PMS get the best support possible to help them have happy and fulfilled lives. The funds raised will help towards research and helping families with PMS. 

We therefore have made the decision that to try and raise as many funds and as much awareness as possible we are going to start running. We were going to start by running 10km in February, however this even got postponed due to Covid 19, so we have instead now challenged ourselves to complete 100km EACH in the month of April. We will track all of our walking and running over the month of April, taking part in a the 100k challenge on Virtual Runners. We will be tracking our progress via our fitbits! Both Steve are I are in the worst shape we have ever been in our lives after having twins, lockdown and just life in general. So having the motivation and a goal for something so important and something that can make such a difference is making running that little bit easier. 

Thank you so much for taking the time to read our story and for any donation you can give, no matter how big or small. Every donation makes a massive difference to those living with Phelan McDermid Syndrome. 

We will keep you updated with our running journey as we go and progress on our distance in April. 

All our love and best wishes, 

Bryony, Steve, Daisy and Lily xxxx 

The Phelan McDermid Syndrome UK (PMSF UK) is a registered charity in the United Kingdom. PMSF UK is about providing a supportive inclusive community for those who have or know someone with Phelan-McDermid Syndrome (PMS). They can provide family days and get-togethers and some limited support for additional therapies, equipment or sibling support. Support is critical when you are caring for someone who has Phelan McDermid Syndrome.

PMSF UK is a global partner with Phelan-McDermid Syndrome Foundation (PMSF) that has members across the world in over 43 countries. Although it is a rare disease it affects people across the globe and PMSF UK is part of bringing that community together.