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Charity Registration SC047332 - The Fragile X Society Registered Charity in Scotland
Company registration number 6724061 - Registered office: Rood End House, 6 Stortford Road, Great Dunmow, Essex CM6 1DA

 

The Leath Family

 

“My name is Elizabeth Leath. I am a pre-mutation carrier of Fragile X Syndrome, and I have 2 little girls with the full mutation.

Fragile X Syndrome affects males and females very differently, with boys often being more severely affected. However, for pre mutation and full mutation carriers it manifests as anxiety and nerviness – on top of any underlying intellectual disability – which for my girls really compounds the problem.

 

As a carrier, I too have always been incredibly nervous and anxious, with public speaking being my number one hate! I know that most people suffer from a dislike of public speaking but this is off the scale – I sometimes struggle to talk in front of 1 or 2 people – it can be crippling, shortness of breath, shaking hands, dizziness etc. Despite this, I recently gave a talk about myself and my daughters at a conference hosted by the British Medical Association, as I feel passionately about making people aware of the different ways fragile X can affect males and females.

 

I don’t think being a carrier has been too bad for me overall. Actually, it was quite a relief when I found out because it gave some context to my feelings. Those hours I have spent over-thinking conversations... ‘Does that person like me still?’... ‘Did I say something I shouldn’t?' Regardless, I am proud to say I have managed a successful career in publishing, and have run several of my own businesses.

 

Obviously, being a carrier has allowed me a deeper understanding of my children’s issues and a desire to help them. In fact, I worked out that my eldest – Maes - was being treated for the wrong difficulty. We were medicating her for concentration when we should have been treating her for anxiety, and it really made all the difference. Her concentration improved because she wasn’t as anxious.

 

To tell you a little more about my family, it consists of me, my husband Stuart, and my daughters Maes and Soran. Maes and Soran are truly gorgeous girls – they both have very different, strong personalities, infectious, which we hope will carry them through life. 

 

Maes is 13 with a mosaic diagnosis and is also on the autistic spectrum. Her IQ is within the average range, and for the first 10 minutes of meeting her you wouldn’t notice any issues, which of course is a problem – for example in a shop – for someone who is crippled with anxiety.

 

After 30 minutes you might start thinking she is a little repetitive and a little bit different. After a day you will realise that she is definitely a little different, in a nice way, and is very different to the average 13 year old.

 

 

We knew there was something different about Maes even before my cousin phoned me one evening with the news that her nephew (who we all knew was autistic) had a diagnosis of Fragile X Syndrome. Within minutes I was on the Fragile X website and said to Stuart this is it – this is what Maes has.

 

Maes was a gorgeous happy little girl, but she was late sitting, walking and talking – about 3 months after her peers – despite numerous visits to paediatrics where all checks were within the norm.

 

However, as parents we knew there wasn’t something quite right, and although I felt the Fragile X website painted a far bleaker picture (with it being focussed on the more severely affected males) we could see things in our little girl; the flapping hands, the developmental delays, her repetitive nature. It was all there.

 

Maes has a lot of autistic traits – she is a master of echolalia (repetition of others speech) and has superb masking tactics. She loves being with people, often chatting to them or over them. She doesn’t like any sports but loves art – she does really great drawings of big faced people which I think could be developed into an art form that could possibly become an income. Maes is interested in fashion and other things that teenage girls are in to – last year she sent a picture of my Prada handbag to me and asked for one for Christmas. Luckily, shortly after I was in Istanbul and managed to get a fake in the grand bazaar to cover off that obsession!

At the time Maes was diagnosed, my sister was pregnant with her second baby, and so both she and I were invited to have a blood test to see if we were carriers. Of course, I knew I was from a bit of (sometimes dangerous but in this case correct!) self-diagnosis on the Fragile X website.

 

Skipping to Soran, who is 10 years old; she has an IQ of around 115 and is not on the spectrum. I think if you spent a day with her you would never think she was different to any other 10 year old, as she mainly saves her curious emotional moments for us. For example, if she gets told off and spirals into a crying hysteria she won’t stop until we apologise for telling her off! In the main, she isn’t any different except her acute emotions, and that she is 2 years behind at school.

 

Although Soran tells us she feels nervous and embarrassed you wouldn’t guess it in a million years. She is very bubbly and fun, loves being with people, and has plenty of friends. Soran has big ambitions of fast cars and expensive holidays! Her dream is to go to University. She loves sports, playing in the football team at school, and has won the sports cup a couple of times. Soran is unbelievably determined. If she wants to do something or be better at something she will practice for hours and hours on end until she can do it.

Soran was about 8 months old when my cousin had called, and as soon as I had my blood results from the genetics department the fun began. We immediately went back to them and asked them to test Maes, as she was starting to have issues at school – although we didn’t realise at the time, as she has lots of friends, and has her fragile X ‘masking tactics’ down to an art – but they refused.

 

They told us they wouldn’t test her until she was 16 years old. I felt fairly shocked at the time, and I feel even worse in hindsight. We weren’t being nosey about our child – she genuinely had problems and needed help. You always hear about early intervention. We were begging for this and had it point blank refused.

 

Our immediate reaction was to go private, but we were advised to stick within the NHS as in the long run it would be better, but in those first few months and years I found it really hard. Of course, we didn’t realise at the time how much she was affected – we were new parents on a learning curve.

Soran was about 8 months old when my cousin had called, and as soon as I had my blood results from the genetics department the fun began. We immediately went back to them and asked them to test Maes, as she was starting to have issues at school – although we didn’t realise at the time, as she has lots of friends, and has her fragile X ‘masking tactics’ down to an art – but they refused.

 

They told us they wouldn’t test her until she was 16 years old. I felt fairly shocked at the time, and I feel even worse in hindsight. We weren’t being nosey about our child – she genuinely had problems and needed help. You always hear about early intervention. We were begging for this and had it point blank refused.

 

Our immediate reaction was to go private, but we were advised to stick within the NHS as in the long run it would be better, but in those first few months and years I found it really hard. Of course, we didn’t realise at the time how much she was affected – we were new parents on a learning curve.

Eventually we met a paediatrician who was amazing, and immediately sent both girls off for tests, querying the logic from before. We had already nearly lost 2 years ping ponging between different departments, not helped that we lived in Southwark with our Drs practice in Lambeth – something he advised us to change ASAP.

 

This initial delay has really affected the rest of our journey particularly for Maes. I feel she is now 4 years behind at school.

I could talk on and on about our journey to where we are now, which included travelling to the Mind Institute in the US because we felt we couldn’t find anyone in the UK who knew anything about Fragile X Syndrome! It was there the lovely Randi Hagerman told us about Jeremy Turk - a Child and Adolescent Psychologist, who has for many years volunteered his time and expertise to the fragile X community.

 

Jeremy has in turn introduced us to various people and organisations, but there just aren’t enough ‘Jeremy’s’ to go round. I know plenty of people who would like the same access to his knowledge that we have had from him, for which we will be forever thankful.

I suppose the thing I want to share with you the most is about having a behavioural type which feels like 95% of medical doctors seem to know nothing about, and so of course it goes on to be said that the same is true for 95% of the teaching profession – even those who work in special needs education.  

 

Even from the moment I got the Fragile X diagnosis we have often refused to be seen by professionals, because their paperwork, diagnosis, and ‘googling’ paints a terrible and un-relatable picture. Therefore, they don’t fit into the conventional boxes - something I feel is what everyone wants.

 

Maes was refused to be seen at aged 4, let alone test her. Her school, whilst she was at the same age, saw a gorgeous little girl who looked just like her peers but didn’t do what they did, and to be honest I don’t think they really knew what to do.

 

We have spent the best part of the last 10 years learning about Fragile X Syndrome, and sharing our knowledge with those in the medical and educational system who we come across. What is so frustrating about having a diagnosis such as Fragile X is that this diagnosis sometimes feel as if it’s not enough, because people haven’t heard of it or don’t understand it.

To get them in to their current school, which is one of the few in London for children with milder special needs, I had to beg... crying down the phone to get the headmaster to see them. This kind of scenario has meant that for Maes, we have gone on to get the diagnosis of autism, because we wanted the support and understanding from the education system.

 

This diagnosis has helped us get a place for September at a school in Surrey, which is the only all-girls school in the country for girls on the spectrum. Here, they have said that Maes will try for GCSE’S, something that until now we had never heard in the same sentence as her name.

 

We have always tried to stay away from stereotyping or excusing her but she had become increasingly lonely without any girls of her age at school, and with the obvious issues of her communicating with her peers it felt like the right thing to do. After the trial day for her new school she said “all the girls wanted to talk to me and be my friend!” It will be nice for her to hopefully make some lifelong friends who understand her.

For Soran, however, the journey goes on. Her issues are even harder to see, and Fragile X Syndrome is not as well understood as it needs to be. As a parent, I would say that you can help by making sure more people know about fragile X. It should roll off people’s tongues just like Autism and Downs Syndrome, but with all of these Syndromes we should be moving away from trying to pigeonhole children.

 

After the pain that my husband and I felt when we both found out they had fragile X I can see now that Maes and Soran are a good little team – which may not have been the case otherwise".

Thank you to Elizabeth and the rest of the Leath family for kindly sharing their story.