This is a question I have wondered for a long time since my youngest brother (who is now 8) was diagnosed. But you’re probably wondering what the hell Fragile-X even means. I had never heard of it myself until recently so i’m here to spread awareness.
What is Fragile-X Syndrome & why are we talking about this?
I went for Genetic Counselling last week to find out a little bit more about it all myself. The lady was lovely & explained everything really well until my anxiety got the best of me & I suddenly felt unwell & collapsed on the floor, I guess it is a lot of information to take in & hospitals can be scary places, right? But that’s a story for another day.. Basically my youngest brother has Fragile-X syndrome which is a genetic condition that causes a range of developmental problems including learning disabilities and cognitive impairment. Usually, males are more severely affected by this disorder than females. Affected individuals usually have delayed development of speech and language by age 2. This explains a lot, Leo (my youngest brother who is now 8) didn’t speak until he was 5 years old. He was very delayed and quite different to other babies & toddlers at his age. Leo has been diagnosed with Fragile-X syndrome, Global Delay & Hypermobility all in which go in hand with Fragile X.
Affected individuals usually have delayed development of speech and language by age 2. Most males with fragile X syndrome have mild to moderate intellectual disability, while about one-third of affected females are intellectually disabled. Children with fragile X syndrome may also have anxiety and hyperactive behaviour such as fidgeting or impulsive actions. They may have attention deficit disorder (ADD), which includes an impaired ability to maintain attention and difficulty focusing on specific tasks. About one-third of individuals with fragile X syndrome show autistic like features that affect communication & social interaction. It can also include avoiding eye contact, anxiety in social situations, insistence on familiar routines and hand flapping or hand biting. Quite often children are wrongly diagnosed with autism or ADHD without further testing. This makes it hard for schools & parents to help a child with these specific needs. Some children & adults also develop epilepsy. It is said that seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome. However, strengths associated with fragile X include good imitation skills, visual learning and long term memories. People are also often described as having likeable personalities, being sensitive to others’ emotions and as having a good sense of humour.
Most males and about half of females with fragile X syndrome have characteristic physical features that become more apparent with age. These features include a long and narrow face, large ears, a prominent jaw and forehead, unusually flexible fingers, and flat feet. However, these are rarely obvious in young children. The lack of distinguishing features is one of the reasons that diagnosis can be delayed. You cannot tell that someone has fragile X just based upon their appearance or behaviour. The only way to tell if someone has Fragile X Syndrome is to do a genetic test.
I went to the genetics appointment on Tuesday & came out feeling like my head was about to explode, although I had already done some research on Fragile-X and knew quite a bit about it due to my youngest brother being full mutation, there was still so much more to learn & I couldn’t help but feel like nobody knew what the hell I was talking about so I decided to do my own research. I asked on Facebook & Twitter for some of my followers to vote on a question poll. On Twitter a huge 68% of you had never heard of Fragile-X syndrome and 27% of you wanted to know more. On Facebook 40% of you had never heard of Fragile-X syndrome and again 27% of you wanted to know more. I figured that writing a post would be the best way of solving this.
How does it all work?
My Mum is a carrier of Fragile-X Syndrome, a female is usually a carrier but men can also carry the gene and pass it down to the next generation. Females have 2 X chromosomes & men have an X and a Y. The X chromosome is always the chromosome that is affected, hence the name ‘Fragile-X’ so if a female passes on the X chromosome to a boy (X+Y chromosome) there isn’t a second X chromosome to balance out the odds. However there is also a chance that the X chromosome is passed on to another female (daughter) which would mean there is now 2 X chromosomes that can be balanced out resulting in this meaning that it is less likely for a girl to have Fragile X syndrome. Its all very complicated but I hope you understand what I am saying? Fragile-X Syndrome is detected through DNA segments known as the CGG triplet repeat. Our DNA is made up of 23 pairs of cells. In a ‘normal person’ the CGG repeat count is between 5 & 40. In a Carrier (pre-mutation) it is between 55 & 200. However people who have the Fragile-X syndrome (full mutation) have over 200 repeats of the CGG triple within the FMR1 Gene. It’s all very complicated, Leo (full mutation) has over 200 repeats. My mum who is a carrier of Fragile-X (pre-mutation) has 76 repeats, I am yet to find mine out, I go back for my genetics test in October where I will have a blood test and my sample will sent off to a laboratory where scientists will investigate and count my CGG repeats.
So how rare is this condition? Fragile X syndrome occurs in approximately 1 in 4,000 males and 1 in 8,000 females.
I went to see a Genetics Counsellor to see whether or not I am also a carrier of the gene. Because my mum is a carrier (pre-mutation) and has passed the gene onto my younger brother (full mutation) this means that there are 3 possibilities for me, 1) I may also have the full mutation without showing any symptoms due to being female & the X chromosome balancing it out. 2) I may have the pre-mutation meaning that I am a carrier and my children will then have a 50% chance of having fragile-X themselves (more common in boys) or may also be a carrier. 3) I may not be a carrier & may not have any issues at all.
So what does it mean for me & my children if I am a carrier of the Fragile-X gene?
This is something that I have thought about over & over again. I am only young & despite the result of the genetics test, the love for my children will never ever change however It does make you think differently. My daughter is now 1 and a half years old & because we can’t see any health/medical conditions or obvious symptoms of fragile-X in her, we won’t be getting her tested until she is a lot older if at all. If I am a carrier of the gene and I have a boy next, there would be a higher chance of him getting the fragile X chromosome from me & he could possibly be full mutation. It is said that most women who are carriers (premutation) have normal social skills although increased shyness and social anxiety can be seen in some women who are carriers of the gene. In addition, there is evidence that women with the pre-mutation are at increased risk for major depression, this worries me as I do suffer with anxiety & depression. But like I said, If I am not a carrier of the gene I have nothing to worry about – only time will tell.
Does this change my feelings on having another baby?
No not at all, as I said above despite possibly having the gene in my DNA my feelings do not change and the love I have for my children will never ever change. I already have one daughter, and would love nothing more than to give Alyssia a sibling. I didn’t want the age gap between my children to be too far apart, there are 3 years between me & my other younger brother and I didn’t want the age gap between my children to be anymore than that but I guess we don’t always have a choice with these things. After speaking with the genetics counsellor we agreed that the whole process would be easier without a pregnancy involved however if I was to fall pregnant sooner than planned it wouldn’t be a problem & we would still be able to go ahead with the testing. Test results are due to come back within 6 to 8 weeks of having the test so I will hopefully have my results by Christmas. Having a baby with Fragile-X syndrome would not be easy but it certainly wouldn’t put me off. I love my little brother with all my heart & despite him being a handful at times, he is the most loving little boy I have ever met.
Why is the Diagnosis so important?
Firstly, the child can receive the appropriate help with education, speech and language and behaviour. However, adults with fragile X have specific problems too – the understanding and management of these problems can be helped once a diagnosis of fragile X is confirmed.
Secondly, a diagnosis has implications for other relatives. Some may be at risk of having affected children, having specific medical conditions and could benefit from testing and genetic counselling.
Autism & Fragile-X Syndrome – what’s the difference?
So as stated above, Fragile-X syndrome is a condition with a known genetic cause which can be found with a blood test. Autism on the other hand, is a description of a pattern of characteristics. These include difficulties with social interaction and communication, as well as restricted or repetitive interests or activities. Autism is diagnosed by evaluating patterns of behaviour. The exact causes of autism are still being researched, but a complex range of genetic and environmental factors are likely to be involved. Numbers vary but it is believed that approximately 1 in 100 people are thought to possibly have autism, this is quite a big number compared to the 1 in 4000 males and 1 in 8000 females who are thought to have Fragile-X syndrome.
Advice from a parent of a child with Fragile-X Syndrome & Autism.
If you have any doubts about your child’s development ask your school for a chat with its designated SENCO Teacher they will know what steps to take to monitor your child. They don’t usually test for Fragile-X until the child is 6 years old but sometimes signs can be spotted in children between 12 and 18 months. Before going down the route of diagnosis they will look fully into your family history of genetics & start a family tree.
Concentrate on the things your child can do and not on what you or others think they should be able to do. All children develop at different times but Fragile-X syndrome is a complex disorder meaning that it has a handful of contributing factors. When asking a child with FX or Autism to do something try and keep your instructions as simple as possible, from experience we have found that if you say too many words it can confuse the child & they will only pick up on the first and last word, the rest will be a blur.
Having a child with Fragile-X syndrome is hard but so rewarding & if you have the right support networks around you, you will be absolutely fine. Don’t be too proud to ask for help.