From the first moment we got our diagnosis, I have hated it.
It’s always with you.
As a family we did not know we had the disability until our fifth child Jack was born, because Daniel and Jared had both had previous misdiagnosis.
Without Jack we probably would still be blissfully unaware that our family carry this gene and three of my sons have the full mutation.
The disability can be passed on by both men and women.
Women have a 50% chance of passing on the defective gene to their children, and for my sons Dan, Jared and Jack unfortunately they got the short straw and I passed my fractured X chromosome on to them instead of the bloody good one!
Not knowing about the disability I really wanted it to be my husband who passed it on, instead it was me….. shit and bollocks.
So here is a little more detail…..
Fragile X is caused by a mutation in a single gene. In people with Fragile X, a defect (a full mutation) turns the gene off. Like a defective factory (I am the defective baby maker), it cannot manufacture the protein that it normally makes.
Fragile X Syndrome is a common rare disease and Fragile X affects 1 in 4000 males and 1 in 6000 females of all races and ethnic groups (source CDC). About 1 in 259 women carry fragile X (me included) and could pass it to their children, (I certainly did that). About 1 in 800 men carry Fragile X; their daughters will also be carriers.
Fragile X syndrome is also the #1 inherited cause of intellectual disabilities and the most common known cause of autism worldwide. Most people with Fragile X are not yet diagnosed – unbelievable but so very true. Did you know that health professionals including GP’s, nurses and even surgeons have never heard of Fragile X Syndrome and this is the 21st century!
Yes Fragile X is inherited, look at me. I inherited it from my mum who is a carrier, and my mum inherited it from her father. Thankfully I do have one son Elliot who does not have the disability and is not a carrier either, so thank you Buddha.
Carrier men will pass the premutation to all their daughters but none of their sons. These daughters are carriers but they do not have Fragile X syndrome, and the Fragile X premutation can be passed silently down through generations in a family before a child is born with the syndrome.
So if you want the more complicated bit about genes and inheritance carry on reading……..
Each cell in the body contains forty-six (twenty-three pairs of) chromosomes. These chromosomes consist of genetic material (DNA) necessary for the production of proteins which lead to growth, development and physical and intellectual characteristics. The first twenty-two pairs of chromosomes are the same in males and females. The remaining two chromosomes, X and Y, determine whether a person is male or female. Males have only one X chromosome which is inherited from the mother. They receive a Y chromosome from the father. Females inherit two X chromosomes, one from each parent.
So how does it affect children and adults – there are a wide range of characteristics associated with fragile X, but an individual person may only experience some of these. Learning disabilities occur in almost all boys with fragile X, to differing degrees. Some boys have severe learning disabilities, like my Jack, and some are only mildly affected like my Dan. Girls usually have milder learning disabilities than boys, but this is not always the case, and some girls with Fragile X Syndrome may be clinically unaffected because their good X chromosome will overcome the bad leading to showing no symptoms at all.
As well as learning disabilities, common behavioural features include short attention span, distractibility, impulsiveness, restlessness, over activity and sensory problems. Girls with or without learning disabilities may show concentration problems and social, emotional and communication difficulties related to extreme shyness and anxiety in social situations.
Many children and adults show autistic like features, including: avoiding eye contact, anxiety in social situations, insistence on familiar routines and hand flapping or hand biting. Jack has bitten his hand his whole life, and has a permanent large callus on his hand. A substantial minority of individuals with fragile X will show greater problems relating to others and may receive a dual-diagnosis of autism with speech and language delay and continuing speech and communication problems. As I have said on my previous page about Jack, he has limited communication and I believe this has affected him greatly as not being able to communicate frustrates the hell out of him and leads to him being more anxious. Some children and adults like my Jared also develop epilepsy.
There are some physical features associated with fragile X, including a long narrow face with prominent jaw bones and ears. However, these are rarely obvious in young children and the lack of distinguishing features is one of the reasons that diagnosis can be delayed. They say you cannot tell that someone has fragile X just based upon their appearance or behaviour, although I have been to many conferences where a crèche has been full of FX children and to me they all looked related in some way! However for an actual diagnosis the only way to tell if someone has Fragile X Syndrome is to do a genetic test.
So are there any good bits????
Of course there bloody well is!
Strengths associated with fragile X include good imitation skills – Jared can copy most UK accents, and when we took him to Scotland for a visit he spoke in a Scottish accent for the duration of our stay, eek! (He loves all things Scottish and when he turned 18 had a Scottish themed party). They also have incredible long term memories and a discussion with Dan can bring up all sorts of past moments. People are also often described as having likable personalities and I have never met anyone yet who does not fall in love with Jared, his smile can light up London and his quotes from only Fools and Horses are legendary and he does like a bit of dressing up too. Even Jack can be cheeky, calling Mum so that I go into his room then laughing because he actually doesn’t want anything just thinks this is funny.
The technical bits on this page have been retyped with personal bits added by me, but if you want to know even more about Fragile X Syndrome please do contact the society on the links below.
Sonia and the FX Boys 