Fragile X Syndrome Awareness Day 2021

Micah was diagnosed with Fragile X Syndrome in January/February 2019, aged 4. We were told over the phone that the genetics test came back positive and that our little boy had a life-long learning disability. When Matt (my husband) and I did some further research into this syndrome, this is what we read... 

‘Fragile X Syndrome is the most common inherited cause of learning disability’.

Most common? Really?

We had never heard of this Syndrome. Our families had never heard of it and the vast majority of our friends hadn’t heard of it. Health Visitors, Play Therapists, Preschool leaders, teachers, TAs, speech therapists, occupational therapists, paramedics - they were all having to Google it.

The paediatric consultants were the only ones with knowledge (although it seemed to be minimal) and we were met with matter of fact answers to our questions, presented with a huge amount of unknowns and told about just one website (which we had already been on) to inform us more about the ‘most common’ inherited learning disability. Matt and I had zero awareness of something so huge - something that now impacts our daily life and will continue to impact our future. 

Today, the 10th October, is Fragile X Awareness Day (ironically also Micah’s birthday!). I don't feel completely ready to, but I do believe now is the time for me to play my part in raising awareness, knowledge and understanding of what Fragile X Syndrome actually is.

So...

What is Fragile X Syndrome?

Fragile X Syndrome (FXS) is a genetic condition caused by changes in the FMR1 gene. This gene usually makes a protein called FMRP. This is essential for brain development. People who have FXS do not have this protein.

How many people are affected by FXS?

1 in 3,500 - 4000 males

1 in 4000 - 6000 females

How does having FXS affect a child?

FXS is a significant intellectual disability (when there are limits to a persons ability to learn at an expected level and function in daily life). It can cause a wide range of difficulties with learning and result in social, attentional, emotional and behavioural problems. Children can have developmental delays, high anxiety, autistic and/or ADHD behaviours, sensory sensitivities, concentration and attention difficulties, and susceptibility to seizures.

What are the strengths of a child with Fragile X Syndrome?

Strengths associated with Fragile X Syndrome include being friendly, sociable, helpful, being sensitive to others emotions, having likeable personalities, good imitation skills, visual learning and a great sense of humour.

You can find out more about FXS by visiting fragilex.org.uk

I hope that from reading this today, and future posts over the coming months, more people will become aware of what Fragile X Syndrome is, and more specifically what that looks like for our two boys.