Welcome to our STORY HUB
A place where personal journeys and professional insights come together like pages in a shared book. Here, families, individuals, and experts contribute experiences, guidance, and wisdom, empowering each of us to become authors of our collective future. Through heartfelt narratives and practical knowledge, we discover hope, build understanding, and find our place in this evolving story
“When we first sat in the genetics specialist’s office, I remember the doctor’s measured tone as she explained that our son, Daniel, might never fully engage in organized sports. The words felt heavy, as if a door was closing before he could even try. We left with our hearts aching, wondering how we’d help him find his place in a world where “team” seemed out of reach.
But Daniel had a different story to tell. He discovered his passion while watching a neighborhood game of soccer from behind our fence. Drawn by the rhythm and excitement, he would sway back and forth, smiling whenever a goal was scored. When we found him a special jersey—his very own team colors—something clicked. Suddenly, that simple piece of clothing became more than fabric. He wore it proudly, as if it were his voice.
In time, the community’s youth league welcomed Daniel as an unofficial mascot. He ran alongside practices, dribbling a ball, and smiling ear to ear. Without speaking a word, the jersey did the talking. Other parents recognized him, greeted him warmly, and asked how he was doing. Coaches gave him high-fives, and kids learned to celebrate his presence. Through these small gestures, Daniel communicated who he was: a joyful, sports-loving boy eager to belong.
Our once-isolated family discovered that the community itself was Daniel’s team—patient, supportive, and open-hearted. Each practice and game strengthened our bond, showing us that belonging thrives where understanding and encouragement unfold. Daniel may not play traditionally, but he’s very much part of the team.”
Abilities can bloom where we least expect them, and sometimes a single jersey can communicate what words cannot. In an understanding community that values every contribution, differences turn into strengths, and every child finds their place on the team.
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At 24 years of age I had graduated from university, had a job teaching high school biology, was married and had a son. That scenario is mostly gone from the generations that came afterwards. Couples in recent decades have foregone having children in favor of extended education, travel, and wealth building so that when a couple begins to think about pregnancy they are often in their 30’s. By that time some women find difficulty in becoming pregnant. Our daughter was one such individual. She had been seen by an obgyn for a few years but only when a friend on Facebook posted a story about her experience with a child with FXS did our daughter looked into FX, something she, and the obgyn, had never heard of. If the Fragile X gene has too many repeats a child can be born with FXS. But when there are fewer numbers of repeats the condition is one of Premutation. One of the several issues related to the Premutation is premature ovarian failure (FXPOI) when in their early 30’s the ovaries begin to shut down. Our daughter tested positive for Fragile X Premutation.
This issue was resolved by our daughter and her husband through IVF. (as an aside, I recommend the movie “JOY” on Netflix) We had easy access to testing so my wife and I and then several in the extended family on my wife’s side were tested. It appears that my wife’s mother who had two sisters, all were Premutation carriers. So many of the tested cousins are also carriers and this goes down to grandchildren as well. But most are aware of this and in the case of FXPOI the women can harvest eggs before POI takes effect. And all are aware of this mostly unknown mutation so that choices can be made. .”
— Quote Source
Informing family members
Many people have found that informing immediate and extended family members about a newly discovered inherited condition, can be complex and challenging. The diagnosis can have far-reaching genetic and emotional implications.
You’ll need to be prepared for a variety of reactions, including:
denial and disbelief
fear
shame and guilt
anger
Hopefully, you’ll also receive support and compassion from family members and friends. These events can bring people together in their search for information.
Please remember that it is not your responsibility to provide genetic counselling to family members or to ensure that they seek testing. All you can do is let your family know what you’ve found out.
Sample Family letter
This Microsoft Word templated letter has been created to help you find the words to explain to your family what has happened. Simply download and adapt it to your needs.
Team Members
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Health Care Providers
Some physicians and specialists you may be referred to and see regularly or occasionally, in addition to or instead of your family doctor, are:
Paediatrician
Developmental Paediatrician
Neurologist
Cardiologist
Ophthalmologist
Gynaecologist
Dentist who specializes in neurodiversity
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Supportive Care Providers
Other supportive care providers and/or services that you may find helpful are:
Psychologist
Speech Language Therapy
Behavioural Consultant, perhaps with a Behavioural Interventionist
Occupational Therapy
Physical Therapy
Educational Assistant and/or Skills Teacher and/or Case Manager in school
Tutor outside of school
Audiologist
Social Worker
Medical Complications
Fragile X Syndrome (FXS) is associated with a normal life span. Many people with this syndrome participate in an active lifestyle and enjoy good health. Although no single health problem is exclusive to FXS, some individuals with FXS are more prone to a number of medical conditions. Here are some those with FXS may experience.
Due to this, individuals with FXS should have regular medical check-ups throughout their lives. An awareness of these increased health risks can lead to prevention, early diagnosis, and appropriate treatment and interventions.
Once your child or family member has been diagnosed with Fragile X syndrome, all you may see is when you look at them is Fragile X. That’s normal – and try to remember that your child is the same person as before the diagnosis. They don’t know that this diagnosis has come all of a sudden.
There is a lot of information and don’t try to absorb everything at once. Over the days and weeks that follow, you will begin to understand what the diagnosis means for your child and the rest of your family. It will become more clear.
Fragile X Syndrome can be overwhelming, especially if you knew little about it prior to the diagnosis. Please remember that you are not alone:
Check with your primary health care provider and/or closest Children’s Hospital for local resources
You can connect with Fragile X communities online
Visit our “You Are Not Alone” page for thoughts that others have found helped them on their fragile-x journey
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These are common to boys and may cause intermittent hearing loss. Some children take a low-dose of antibiotics for a season or longer to prevent an infection. Others may need to have an ear tube inserted to help drain fluid from behind the eardrum. Hearing tests should be done regularly.
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Anxiety is quite prevalent in those with FXS and can look like avoidance, repetitive/pressured speech, increased physical movement, nervous activity, restlessness, irritability, motor agitation, repetitive behaviour, aggression, and self-injury as well as physical and physiological features of anxiety. Anti-anxiety medications are often prescribed to help lower anxiety levels.
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Attention problems, difficulty focusing, and increased distractibility can interfere with all aspects of life and compromise development, for example speech and and language as the individual cannot focus on what is being said during a conversation. Attention problems interact with senosry overload issues, where the affected person attends to too many stimuli at once (ie. the sound of the fluorescent lights, the sight of too many decorations on the wall, etc…at the same time). Medication may be prescribed and help some individuals focus better by managing their sensory overload, anxiety, and some of their social communication difficulties. Of note, some children may outgrow their ADHD symptoms, however, others will require treatment and interventions throughout their lives.
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Autism Spectrum Disorder (ASD) or Autism is diagnosed when there are developmental delays or abnormalities in social interaction, in language used in social communication, in behaviour and interests, and in symbolic or imaginative play. It is diagnosed per the DSM-IV by a child psychologist, child psychiatrist, or developmental paediatrician. There is a 20-25% incidence of ASD in people with FXS.
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This condition may be manifested by a click or an early systolic murmur and is caused by a heart valve that does not close properly. It occurs in approximately 50% of adult males with FXS.
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Seizures occur in approximately 15-20% of children with FXS. The type of seizure may include absence episodes, partial motor, generalized (grand mal), or partial complex seizures. If seizures have occurred in the past, an electroencephalogram (EEG) during both waking and sleeping states should be done. Pharmacotherapy, or medications, for seizures is recommended and advice from your doctor must be sought.
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An ophthalmologic examination is recommended by four years of age or earlier as strabismus or other sight difficulties may occur in children. An obvious visual defect requires referral to an ophthalmologist as soon as it’s noticeable.
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Depression can be difficult to diagnose and treat in individuals with communication challenges, intellectual and/or developmental issues or disabilities. Depression can be treated by medications in the SSRI and SNRI groups.
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Such as dysplasia, or the abnormal growth or development of cells, tissue, bone, or organ.
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These can affect some males with FXS. Some anti-anxiety medications (serotonin agents) may be helpful in that they reduce the anxiety that can cause aggressive outbursts. Antipsychotic medications are also used in individuals with FXS showing more severe aggression that interfere with daily functioning or pose a threat to the affected individual or others.
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These can manifest as significant anxiety, agitation, aggression, and self-injurious behaviour. Medications for aggression and/or anxiety may be helpful.
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Through the use of EEGs, it has been found that at rest, individuals with FXS’s brains have increased high-frequency electrical activity. Relaxation and calming strategies may be helpful.
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Some FXS individuals prefer isolation, such as staying in their room. Relaxation techniques as well as anti-anxiety medications may be helpful.
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This is common for those with FXS and can manifest as aggression, self-injurious behaviour, severe tantrums, and oppositional interactions. SSRI medications may be helpful in managing these symptoms in those with lower support needs. Also, if SSRIs are not helpful, antipsychotics may work as well.
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Examples include up and down behaviours such as crying, upset and sad, then happy, and then back to being sad. Mood stabilizer medications may be helpful.
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OCD is an anxiety disorder and is usually characterized by repetitive behaviours. It can be treated with an anti-anxiety medication, but a higher dose may be needed.
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People with FXS frequently enjoy routines and repetition. They also have perseverative speech and actions, such as ritualistic behaviours, constant chewing of clothing or other objects, and hair pulling. SSRI or anti-psychotic medications may be helpful.
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This is an anxiety disorder where the person with FXS is non-verbal in certain situations, specifically those that are unfamiliar or uncomfortable, or with people they do not know very well. This can be treated with medications for anxiety.
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This is commonly seen as hand biting and finger chewing, although head banging can also happen. Behavioural assessment and treatment can be helpful. Antipsychotic or anti-anxiety medications may be used in conjunction.
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Behavioural and Occupational therapies can be helpful, as well as anxiety medicines.
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Because of hyperarousal and the difficulty for a person with FXS to settle down at bedtime or after awakening overnight, behavioural strategies can be implemented to provide a routine and calming effect. Sleep problems can also be due to a medical problem, thus, be sure to speak with your health care provider. Subsequent to that, sleep medications may be recommended and prescribed.
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This is found in most individuals with FXS. There are some triggers for social anxiety, such as forced eye contact and attending large gathering. Some anxiety medications can be helpful.
Behavioural Challenges and Physical Differences
Where to learn more, get help, and discover community resources
Fragile X Research Foundation of Canada
Visit the various sections of our website as well as our About Us section for specific email contacts for specific subject areas - we are here to help!
Special Olympics Canada
Special Olympics Canada helps Canadians, through sports, with intellectual and developmental disabilities of all ages by creating a safe space where they are respected, valued, and accepted. Please check out their website to find a local chapter near you.
Inclusion Canada
Inclusion Canada can assist by directing you to your local Community Living or provincial Inclusion organization - find your region on their website or call their National line at 1-855-661-9611. They provide and direct newly diagnosed families to locally available support services, such as various therapies and government programs.
Fragile X Websites From Other Countries
They provide information about Fragile X, testing and assessments, treatment, research, and resources. Of note, some aspects/policies/procedures may be different in Canada.
National Fragile X Foundation (US)
Fragile X Association of Australia
Fragile X Society (UK)