All about Fragile X Syndrome


What is fragile X syndrome?

Fragile X syndrome is the most common form of inherited mental retardation in males and is also a significant cause of mental retardation in females.


It affects about 1 in 4,000 males and 1 in 8,000 females and occurs in all racial and ethnic groups. If you should know, my son also have it.


Nearly all cases of fragile X syndrome are caused by an alteration (mutation) in the FMR1 gene where a DNA segment, known as the CGG triplet repeat, is expanded. Normally, this DNA segment is repeated from 5 to about 40 times. In people with fragile X syndrome, however, the CGG segment is repeated more than 200 times.


The abnormally expanded CGG segment inactivates (silences) the FMR1 gene, which prevents the gene from producing a protein called fragile X mental retardation protein. Loss of this protein leads to the signs and symptoms of fragile X syndrome. Both boys and girls can be affected, but because boys have only one X chromosome, a single fragile X is likely to affect them more severely.

What are the symptoms of fragile X syndrome?

A boy who has the full FMR1 mutation has fragile X syndrome and will have moderate mental retardation. They have a particular facial appearance, characterized by a large head size, a long face, prominent forehead and chin and protruding ears. In addition males who have fragile X syndrome have loose joints (joint laxity), and large testes (after puberty).


Affected boys may have behavioural problems such as hyperactivity, hand flapping, hand biting, temper tantrums and autism. Other behaviours in boys after they have reached puberty include poor eye contact, perseverative speech, problems in impulse control and distractibility. Physical problems that have been seen include eye, orthopaedic, heart and skin problems.


Girls who have the full FMR1 mutation have mild mental retardation.


Family members who have fewer repeats in the FMR1 gene may not have mental retardation, but may have other problems. Women with less severe changes may have premature menopause or difficulty becoming pregnant.


Both men and women may have problems with tremors and poor coordination.


How is fragile X syndrome diagnosed?

There are very few outward signs of fragile X syndrome in babies, but one is a tendency to have a large head circumference. An experienced geneticist may note subtle differences in facial characteristics. Mental retardation is the hallmark of this condition and, in females, this may be the only sign of the problem.


A specific genetic test (polymerase chain reaction [PCR]) can now be performed to diagnose fragile X syndrome. This test looks for an expanded mutation (called a triplet repeat) in the FMR1 gene.


Is fragile X syndrome inherited?

This condition is inherited in an X-linked dominant pattern. A condition is considered X-linked if the mutated gene that causes the disorder is located on the X chromosome, one of the two sex chromosomes. The inheritance is dominant if one copy of the altered gene in each cell is sufficient to cause the condition.


In most cases, males experience more severe symptoms of the disorder than females. A striking characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.


I treat our circumstance as a challenge

Well, I for one have my son diagnosed with fragile X syndrome and it is not easy as I may usually sound it is but me and my husband are doing our best. We keep on the challenge!

Every Morning with Fragile X Syndrome

What is Fragile X syndrome?

Fragile X syndrome 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. 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 have features of autism spectrum disorders that affect communication and social interaction. Seizures occur in about 15 percent of males and about 5 percent of females with fragile X syndrome.


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, flat feet, and in males, enlarged testicles (macroorchidism) after puberty.


Every morning with my son

This boy of mine wakes to a world that is too bright, too loud & too fast. Every day we pray that we can provide him enough love, comfort and security to get him through to the end of the day whole and happy.


Every day we give him his medications, to hopefully smooth the rough edges of the world that will tear at him. Every day we give him his “firsts” and “thens” to sooth the anxiety that can rear its head without warning. Every day, I fear we will fail. Some days the fears come true. Some days they do not.


Regardless of whether the fears were justified or not, every night, my son hits reset. He greets every morning with joy. After years of living in a body with skin too sensitive and a brain too connected to give him the peace everyone else takes for granted, this boy gets up every morning and shines.


I love my son

I wanted to do something for him. A couple months ago, on a whim, I reached out to a friend who also lives this life and knows what this world is like to boys like mine, like his. I gave him a wish, it was really a prayer though he will be very amused to hear that I sought him out for such a thing. I needed something. Something for those days when I am too dejected or worn down by fragile X to imagine for myself what this life is bringing us too. I wanted something to put in front of my son to show him, “SEE, this is what you are…we see you, we love you, we believe in you.”


And so, I thought I should give him an art picture. I gave him a very heartfelt drawing of him and my husband together that says we love him. We will always be there for him. We will survive this life!

Fragile X Syndrome Facts and Current Research



Fragile X Syndrome Facts

Fragile X syndrome also called Fragile X is the most common inherited form of mental problems or mental retardation. It is caused by changes in a single X chromosome (FMR1). FMR1 does not produce enough protein (FMRP) that works cell communication.


Normal X genes that control FMR1 levels have promoter regions consisting of about 6 to 40 CGG; Fragile X genes have about 55 to 200 (termed premutation) or more than about 200 regions (termed full mutation).


About 100 trillion cells make up a human body and each should have 46 chromosomes, but males have only one X chromosome; so, if it contains a FMR1 chromosome, the effect of the lack of FMRP is more significant than in females.


Approximately one in 3,600 to 4,000 males is affected by the full mutation of the FMR1 gene, and about one in 468 males has the premutation form of the FMR1 gene; about one in 151 females in the general population has the premutation while about one in 4,000 to 6,000 females is affected by the full mutation (these are estimates only).

Signs and Symptoms

The Fragile X gene is only carried on an X chromosome. Both males and females may transmit a Fragile X (FMR1) gene on their X chromosome so either a man or a woman may be a carrier.


The signs and symptoms of Fragile X syndrome have five general categories where individuals often show altered or arrested development.

  • Intelligence and learning (low IQs)
  • Physical (long face or jaw, short stature, enlarged testicles)
  • Social and emotional (anxiety)
  • Speech and language (stuttering and disorganized speech)
  • Sensory (sensitive to certain stimuli like sounds, balance problems)


Each individual may exhibit variations in the above five categories.

  • Features of autism and fragile X overlap, but the core deficit in autism is social interaction while the core deficit in fragile X is intellectual function and hyper arousal/anxiety.
  • Angelman syndrome is a genetic disorder that also has features of fragile X with delayed development and severe speech impairment along with seizures, small head size, and hand-flapping movements; but is due to genetic defects or alterations in a gene termed UBE3A.
  • Myotonic dystrophy (muscular degeneration and tissue loss) related to fragile X syndrome as both have similar genetic alterations (repeat expansions of genetic coding)


At Present

There is no cure for Fragile X syndrome nor are there any definitive treatments other than helping the individual develop to their maximal potential through education; therapies such as speech, language, behavioural, and physical; and other therapies. Fragile X detects FMR1 DNA (PCR or Southern blot methods)


Medication therapy may only help certain individuals with certain severe problems and should be prescribed only by the patients’ doctors.


There is no medication that can cure Fragile X syndrome.


Adults with Fragile X syndrome may benefit from a team approach to help the patient adjust to independent living, if possible.


If a family member has been diagnosed with Fragile X syndrome, other family members may want to be tested to determine if they carry a Fragile X chromosome; there are several accurate DNA tests available for gene testing (see above) and for determining the amount of FMRP produced. Prenatal tests are also available.


Current Research

Research is ongoing. Gene therapy, gene activation, and FMRP replacement therapy are several areas that may lead to treatments, or possible cure or prevention, in the future.

A Bit More About This Blog

Why I created this blog

I created this blog shortly after my son was diagnosed with Fragile X Syndrome.  We had a later diagnosis than most do now days even though we were aware from the beginning I was a carrier of Fragile X Syndrome.


Over the course of the first three and a half years of my older son’s life, I tried to find information online about infants and toddlers with Fragile X desperately seeking affirmation that my son was ‘okay’.  Nothing was complete and so many things were incredibly inaccurate though I didn’t realize that at the time.


When we finally did get our diagnosis, this blog became my way of getting real, accurate information to others that may be going through what I had and helping them along their journey, something I never had.


I continue to blog and follow our journey for the same reason, but also to give others hope.  To know that you can survive.  That you can do it.  To remember in your dark days that there is light and that most importantly – it will be okay.


Where it came

Fragile X comes from my paternal grandmother which of means my father and sisters are carriers as well.  It has since been passed onto my child.


Life isn’t always perfect for me. I certainly have my ups and downs as everyone else does.  It’s in those down times that I have to remember to put one foot in front of the other and focus now.  I can’t change the past, I certainly can’t predict the future, but I can do my best each and every day to make the future the best I can for myself and kids.


The Challenge

It is not easy having your son diagnosed with Fragile X Syndrome. It is not easy raising them, let alone living with them. But I do love my son. I wouldn’t trade my experience with him for another one.


But yes, there will also be days and times that I feel that I wanted to quit. There will be days that I will be fed up and tired. But that’s just life. We needed to keep going. We need to survive.


And so, for me to keep on looking forward with my son and my supportive family, I look at our life in a different perspective. I find things in our life that makes us really inspired. After all, inspiration is just the key to keep on going. It’s what fuels us to be stronger and to achieve whatever goal we are setting.


A Quote for you

Although time seems to fly, it never travels faster than one day at a time. Each day is a new opportunity to live your life to the fullest. In each waking day, you will find scores of blessings and opportunities for positive change. Do not let your TODAY be stolen by the unchangeable past or the indefinite future! Today is a new day! –Steve Maraboli