My 6 year old daughter Bree recently got diagnosed with a rare genetic medical condition named Phelan Mcdermid syndrome. The syndrome is so rare that approximately only 3000 people in the world have been diagnosed with it.

Right now there is no cure so it my mission (Supported by friends and family) to not only raise awareness but to raise as much money as possible to help towards finding that cure in the hope that one day my little girl as well as the other 3000 diagnosed have the opportunity to lead a life that most of us take for granted.

Children with this complex medical condition are born with a genetic difference on their 22nd chromosome that affects brain development and functioning. This results in intellectual and physical disabilities that vary from person to person. Some people with Phelan-McDermid syndrome lose essential skills, and most require long-term care and medical attention.

Although Bree is 6 she has the mental age of a 2 year old, she can currently walk and although you cannot have a back and forth conversation with her she does know enough words to let you know some of her needs (We are incredibly grateful for this because a lot of children in her condition can't) however a common theme of this syndrome is regression so we do not know what the future will hold for Bree and our family.

Its a heart breaking feeling to know that your child can't do the basic things in life like get herself dressed, tell you about her day and safely eat food without the risk of choking and that's without the heartbreaking thoughts of her never being independent, falling in love and having children of her own.

The diagnosis is new to us and as a family we are still trying to navigate our way around what it means, but for now I can tell you that our little girl is loved, happy and surrounded by the best people. Yet again our family have learnt how precious life is and how we need to live each day to maximum and to make each day count. As parents our main focus is to make sure our children are safe, loved and able to have the happiest childhood that we can provide and that is what Ben and I will continue to do for Bree and her siblings.

So thank you to my good friend Penny who will be walking by my side on this 100k challenge and helping me to raise awareness of a syndrome that not many have heard off as well as helping to raise funds for the charity. I love and appreciate you Pen. Also thank you to everyone that has taken the time to read this.

If you can donate then I thank you whole heartedly and if you can't donate then I understand, I know people haven’t got money to spare at the minute but I ask you to please share our posts on social media and tell people about our charity because the more people who understand PMS the more chance the charity has of making a difference.

Thank you

Love

Nat & Ben