Enjoy my post below

And please leave a comment at the bottom!

Fragile X Syndrome: have you heard of it?

Fragile X Syndrome: have you heard of it?

fragile-x

Hello! My name is Becky and I used to be a student of the GW, who has kindly let me hijack her blog today!

I want to tell you about a condition that directly affects around 15,000 people in the UK. It is the most common inherited cause of learning disability and the leading single gene cause of autism. Yet surprisingly few people have heard of it.

The condition is called

Fragile X Syndrome

Have you heard of it? If not, let me fill you in. 

Fragile X is a genetic condition which affects about 1 in 4000 boys and 1 in 6000 girls. On the whole, boys tend to be more severely affected. The condition is associated with shyness, anxiety and sensory problems, which can make day-to-day events seem overwhelming. Although there are some physical characteristics of the condition (including large ears and a long face), it is not usually clear to see that someone has fragile X, just by looking at them. The only way of finding out if someone has the condition is to do a genetic test. 

Fragile X Syndrome is also part of a family of conditions. Other family members, who have a milder form of the mutation, may develop early menopause, fertility issues, anxiety, tremors or ataxia. In fact, about 1 in 250 women and 1 in 800 men (that’s about 120,000 people in the UK!) are carriers, meaning they have this smaller version of the gene and the potential to have a child with fragile X. 

fragile-x(2)

Despite these high figures, the condition is relatively unknown amongst the general public, health care workers and educators. Early diagnosis and understanding of issues specific to the syndrome makes a huge difference, but this is not easy as no one's heard of it!

This is what we aimed to tackle on Friday, which was European Fragile X Awareness day! However, we didn’t want to focus on the disability. Instead, we wanted to spread positive awareness and celebrate families affected by fragile X and the extraordinary ways that they face and overcome challenges associated with the condition. 

The first thing we did was to organise this fantastic Flash Mob in Kings Cross Station!

We also asked people to share #fragileXtraordinary stories and photos about their loved ones who are affected by fragile X. Hundreds of people from around the world joined in with thousands of inspiring posts (there are still more being added!). I have decided that the best way that I could possibly raise awareness of the condition is to share these beautiful posts with you. Please take a moment to look at the posts that families shared on www.twitter.com/fragilexuk. However, for me, the post below from the mother of a grown up son with fragile X sums things up better than I ever could:  

"For 44 years I've never known anything other than being around people with Fragile X. I have two brothers who were, up until my son was tested, just put under the "mentally handicapped" umbrella. Then when my son was 4 years old I was given the news that strangely made his dad and I happy that he had Fragile X since we had always been put in a category of being young parents of a badly behaved boy!! From living with my brothers I knew our life would change and there would be tough battles ahead but I also knew there would be rewarding and funny days too.

He is now 26, lives at home with us and refuses to go to a college so with the help of family and very good friends (something I found you lose having a child with behaviour problems) I manage to get a break from him from time to time which I really need some days!!!

I could tell you some stories that would make you weep and I do wonder how we've coped and got through them but we have. We've cried many tears but a lot of the time it's through ignorant people/doctors/consultants not having the time, patience nor knowledge to understand our special son. He has certainly made us a solid family where we cope with things together. His love for football certainly takes up his life and his main topic of conversation. That and buses! He's the man to know a bus number and its timetable even 200 miles away! And the way he cares for his nan makes us so proud. 

We truly feel privileged as a family to have this special person in our life so remember if and when you get the diagnosis that your child has Fragile X, don't ever think you've done something wrong, it means that you have given society another lovely, funny character to love and to make our world a better place.”

fragile-x(3)

If you want to learn more about Fragile X, then you can visit www.fragilex.org.uk.

Thanks so much for taking the time to read this! 

Becky, Chief Executive of the Fragile X Society, over and out.


fragile-x(5)

Share the love!

7 Comments

  1. Excellent blog. Informative and heartwarming :)

  2. I’d not heard of it. Very informative, thank you xx

  3. Thank you for sharing this – I had never heard of Fragile X Syndrome – very informative.

  4. Thank you for sharing this, it is always good to learn and expand our knowledge. Very informative x

  5. Never heard of this and agree with other comments….also he is very lucky to have a caring and loving family and you are lucky to have this special person in your life….and, yes, they do make this world a better place.

  6. thank you everyone for your kind comments. I hope that you tell all your family and friends about Fragile X to keep raising awareness xx,

Submit a Comment