Hi everyone, thank you for taking time to read this. On June 20th myself, family and friends are doing a sponsored colour run/walk to raise money for the MEF2C foundation. A rare genetic chromosome condition that affects my 3 year old daughter Minnie Mae. All money raised will go towards research which will help in so many ways for the people with the condition and their families too. Here is Minnie’s story…

Minnie is 3 years old and at 6 months old had her first epileptic seizure (which we later found to be a symptom of her condition) so with that and not reaching developmental milestones, she was referred to have genetic blood tests done. The results were that Minnie has ‘haploinsufficiency syndrome’. This is caused by having a micro deletion of her chromosome 5q14.3 which affects a gene called the MEF2C gene. This is very rare and less than 500 worldwide are known to have it (52 in the UK). Although in many cases it’s genetic, in Minnie’s it was spontaneous, it just happened.

The characteristics of this condition include severe developmental delay, epilepsy, hypotonia , non verbal and many other features. The condition affects each individual differently as some have a full deletion, some a duplication and some have other conditions too. So progress for each individual varies. But because of how rare it is. The full effects of this condition are still unknown, and they can’t tell its severity until later on in the persons life.

Originally, we were told to prepare for the possibility of Minnie never walking or talking. But she sees some of the most amazing professionals and she is such a determined little girl that she never fails to make us proud and keep trying everyday!!! Minnie currently uses a kaye walker and hopefully will walk independently with time. She also took her first steps alone, completely unprovoked last month!!! So we take each day as it comes and everything she does makes us proud!

Minnie is doing fantastic with her progress and as with any child when she does something for the first time or begins to do something new it’s amazing but when it’s a possibility that she will never do something it makes that achievement that more extra special. The money raised will go towards research in rare genetic conditions that affect this gene to help in many ways. The charity is called MEF2C Foundation UK. If anyone wants more specific information in this charity I will try and attach it on here.

So please if anyone has anything spare to sponsor myself and Minnie’s family on this sponsored walk whenever you can ❤️ I know it’s a while off yet but I will be posting often between now and then. Thank you so much we hope to make even the smallest contribution to such an important cause and help with the research to support and help our Minnie, as well as the other children, people and families that this condition effects!