DDX3X Syndrome is a rare disease that is caused by a spontaneous mutation at conception. It primarily affects girls due to its location on the X-chromosome, though there are around 20 affected boys.

It was only recently discovered in 2014, and has only been identified in about 500 individuals, however, doctors believe it is much more common and is often mis diagnosed as autism spectrum disorder or another generic developmentally delayed label. 

Symptoms include intellectual disabilities, seizures, autism, low muscle tone, abnormalities of the brain, and slower physical developments. It has a broad spectrum - some children learn to speak in full sentences while others are nonverbal; some individuals run, jump, and even ski while others are unable to walk. 

Researchers across the globe are now looking at DDX3X syndrome and its effects. The charity's purpose is to help families and researchers learn more about the condition and potentially find treatments or even a cure. The UK branch of the charity is hoping to raise funds in order to employ someone to open a yearly clinic specifically for DDX3X children, thereby offering specialised treatment and care. 

Lou (Lily's Mum):

"Lily is 1 of over 500 children worldwide who was born with DDX3X Syndrome. She is currently 3 years old and has made great progress over the last year. She can walk and is now starting to tackle steps on her own. She can identify numbers 1-20 and all the letters of the alphabet. She can site read basic words and loves matching and puzzles. 

Her greatest challenge is speech; however, she has made slow gains recently and has got around 6 approximations of words. This is an area DDX3X children need a lot of support in and an area the charity is hoping they can find treatments in. 

Lily is a fun and happy toddler who loves to explore and laugh. She enjoys learning and is always looking for her next challenge. We love her dearly and we are excited to see what goals she will achieve next. 

We are so grateful to Zena for choosing this charity to raise money for and would like to thank anyone who decides to donate. Your donation will help support hundreds of children like lily who are desperate to succeed."

Zena: "Thanks for taking the time to visit my page. Running this marathon will be a personal challenge, and I will be honoured to complete it with Lily in mind and her incredible achievements, as well as the DDX3X charity and families that are supported through this charity"

Donating through JustGiving is simple, fast and totally secure. Your details are safe with JustGiving - they'll never sell them on or send unwanted emails. Once you donate, they'll send your money directly to the charity. So it's the most efficient way to donate - saving time and cutting costs for the charity.