Fragile X Syndrome: Experiences and Importance of Diagnosis
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Fragile X Syndrome: Experiences and Importance of Diagnosis

Fragile X syndrome is an inherited genetic
condition, which is most commonly associated with developmental delay and
intellectual disability. It affects about one in 4,000 males and about one in 6-8000 females. Clinically, it presents in quite a wide range. Women are almost always less affected than men. Most men will have some form of
intellectual disability. Other things that are quite common are autism and attention deficit hyperactivity disorder The genetic test for fragile X should be
done in pretty much all children and adults for whom there’s a developmental delay. Rohan at his thirty month checkup was told by his health visitor that he was delayed, with his speech and with his motor skills. So we were referred to a
pediatrician. The pediatrician wanted to take some bloods from Rohan, but we
weren’t actually too sure what the bloods were for. A further, sort of, six
months later, so by a year after his thirty month check-up, we were actually
given the diagnosis of fragile X. Although he was reaching milestones, he
was only just reaching them and his speech was not what I would consider as being appropriate for his age. We were very fortunate and that we had a GP who knew the family situation well or knew some of the members very well and I think believed Fiona that she wasn’t just a neurotic paranoid mother. The health visitor told us that Rohan had fragile X. She didn’t know what Friday X was, we
don’t know what fragile X was so it was very emotional and we just were left with lots of questions but no one had any answers for us at that time The consultant rang us up and said could she come and visit us at home and she came
to the home and told us. We knew it wasn’t going to be good news: the consultant doesn’t come to your home to give you good news. She was great she was very
clear, said: this is the condition your son has. Making a diagnosis of fragile X is
really important and there’s a number of reasons for that.
The first one probably the most obvious one is that this is an inherited
disorder so if you have a child with fragile X, then there is a chance
that if you have another child that may also have fragile X. Similarly, some of
your relatives if they carry the gene then they are also potentially likely to
have a child with fragile X. I have four children two of whom have fragile X. The oldest is 31 he was was diagnosed when he was six.
The youngest, who’s twenty five, was diagnosed when he was about two or three months old. Alasdair was diagnosed when I was eight
and a half months pregnant with Chloe, so blood was taken from the umbilical cord
as I gave birth and the results came through when she was four weeks old
confirming that she had a fully mutated fragile X gene. We’ve been able to find out if sisters cousins aunts are affected as well. It’s actually really important just to have a diagnosis You know, I think we often as clinicians
undervalue how important it is for families just to know what’s caused the
condition that their child has. It also just allows access to support services organisations, like the fragile X Society who are really good support for families
in the UK. As a mother, it’s really helpful to understand that my child has
got delays but it’s because of a specific diagnosis that he has. It then gives a reason for his behaviour that it wasn’t just him but it wasn’t just us There was a significant time of coming to terms with it. There was also the the
positives to it, that you had a reason there was a reason why Jamie was
behaving the way he was. Why his developmental goal posts were not being met Supports that were useful were the fact that he had the diagnosis, so when you go to the school or the nursery you can tell them what’s wrong they were more able to give your support. At the time it felt like… you’ve not been abandoned… but there was a lack of information out there. But actually, what would, you know, psychiatrist or what would a geneticist been able to say to you Actually, I think it’s very very
little. It’s more getting support from people like fragile X [society] and that’s more around other families that have had similar experiences. A charity that was able to help us was fragile X society and they have just sort of become a
little bit like family. It’s the only way to describe it. To me would always come back to the fragile X Society. I think they did a just a fantastic job of
providing support, providing information A lot of the help that I’ve received up
in Scotland has been from Sandra. She has always been there for us, if there’s anything that we have to do or you’re having little worries or queries. Sometimes she just emails to see how you’re getting on which is lovely but she also holds
meeting every other month which families can go to. I’ve met a lot of people
who have got other children that have fragile X and they’ve been a big help
for me as well. Actually because their children are either the same ages as my
son or a lot older so it’s great to be able to get information about what
the future might hold. As well as other children around Rowan’s age. Genetic counselling is the service that provides information support and advice to
families with an inherited condition. When you newly hear about fragile X and your child has been diagnosed You’re bombarded with information. In a genetic service, you’ve got an appointment of 45 minutes in a very
relaxed environment. We can really go through the expressions that are there.
We can also see what kind of help you need maybe in accessing information from
other sources, or we can give support when you want to contact family
members. For many people once they have had a diagnosis with fragile X they
wonder how it would affect them and what implications this will have for
themselves and the family. Again, we’ll be there to give you easy
explanations and help you and help you with possible choices before pregnancy, maybe when you’re pregnant, You’re coming to terms with a very huge change because you’ve discovered your child has has fragile X syndrome as all I can say
is 14 years on from the diagnosis for our younger son, I wouldn’t change a
thing. He’s a lovely boy you know. I love him being part of the family. He’s
certainly made myself and my wife you know, a much better person, or much better people. Seek the information on fragile X syndrome when you’re ready we found it very useful, I wasn’t prepared at the time to receive and be bombarded with
details and statistics and fragile X and about how it was going to affect
everybody and so on. That wasn’t useful. We needed to get to ourselves together
as a family and then find out more about it by watching our son and daughter and
then when we were ready to get the information, and to get validated
information was very useful. To be able to pick up the phone and have some at the end of a phone that was to the fragile like society. It is very hard the first few years It’s just unbelievably difficult but you’ve
got to stick in there and realise other people have gone through this, gone down this road Get everything you can, get all the support you can and use it. I’ve only recently received my diagnosis for my son it’s been a year and a half and my
message to anybody who is receiving a diagnosis, or is in the process of finding
out what fragile X is, would be open up don’t keep it all in. That’s something
that I found really hard, I wanted to battle it myself, but please don’t.
Because there are so many people out there that really want to help. You do
feel alone, but you’re not. You’re really not alone. I think that the Fragile X Society can help You know, schools can help, nurseries
can help. There are people who want to help. And let family and friends know. Try and get support for you. As well as finding the support for your son or your daughter or your family member who’s received a fragile X diagnosis,
because you don’t want to bottle all these feelings up. You’ve just got to weather
the tantrums, and it’s the tantrums in particular that you will find the most
difficult, because people want to (especially in public places) People want
to give you all sorts of well-meaning advice and they just don’t know what
they’re talking about. They are lovely children to have you know the the fragile X kids I’ve met have just been great fun they’re just a wee bit different. Accept it, make the most of it.

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