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Introducing fragile X -

Fragile X syndrome, or Martin-Bell syndrome, is a rare genetic condition that affects a person’s learning, behavior, appearance, and general health.

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Not so common -

Fragile X can be difficult to diagnose, so it is not completely clear how many people are affected globally by the condition. However, we do know that it’s uncommon.

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Number crunch -

Indeed, fragile X is estimated to affect between one in 8,000-11,000 females and between one in 4,000-7,000 males.

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Symptoms -

People born with fragile X syndrome usually begin to present symptoms around the age of two. There are certain things that a parent can look out for.

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Developmental problems - An important symptom of fragile X is problems with development. A child with the condition may have trouble sitting, crawling, or walking like other kids their age.

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Language and speech -

Fragile X toddlers may also struggle with language and speech, or show symptoms of social anxiety, such as hand flapping or avoiding eye contact.

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Symptoms in older kids -

As the child grows older, other symptoms may start to appear. These might include temper tantrums, poor impulse control, and obsessive-compulsive behaviors.

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Autism -

Children with fragile X are also more likely to have autism than those without the condition. Indeed, fragile X can sometimes cause autism.

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Fragile X and autism - A child with both fragile X and autism is more likely to suffer from seizures, sleep issues, more behavioral issues, and they are likely to need more medications.

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Physical symptoms -

There are also certain physical symptoms of fragile X. These include (but are not limited to): a long, narrow face, crossed or lazy eyes, and large ears.

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Causes - "So what actually causes fragile X syndrome?" we hear you ask. Fragile X is caused by changes to the FMR1 gene.

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The FMR1 gene -

The FMR1 gene is responsible for the production of FMRP, the protein responsible for brain development.

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Boys vs girls -

Children with fragile X either make too little of this protein, or none at all. Both boys and girls can be affected, although girls often present with fewer symptoms.

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A peculiarity -

Interestingly, the fact that fragile X is genetic does not always mean it runs in families. The size of the FMR1 gene is key, and this can vary from one person to the next.

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Doesn't always run in families -

This means that the gene can become progressively larger over generations, and some people with fragile X will find no family history of the disease.

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Diagnosis -

When it comes to diagnosis, tests can be done as early as during pregnancy to determine whether a baby will be born with fragile X.

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After the child is born -

The doctor can also do a blood test once the baby is born for parents who are worried their child may be at risk and don’t want to wait for symptoms.

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Treatment -

Unfortunately there is no cure for fragile X, but there are definitely treatments that can help children manage the symptoms of their condition.

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Education -

For example, there are special education programs for children with fragile X that can help them learn more successfully. There is also speech and language therapy.

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Occupational therapy -

Occupational therapy can help children with daily tasks, while medicines can help prevent seizures and manage ADD symptoms, such as hyperactivity.

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Starting early -

In general, the earlier you start treatment with a fragile X child, the better. Parents should work with doctors, teachers, and therapists to make a treatment program.

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Outlook -

In terms of outlook, fragile X is not life threatening. The life expectancy of someone with this condition is about the same as someone who doesn’t have it.

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Happy lives -

Indeed, a lot of people with fragile X are able to conduct successful and fruitful lives on their own.

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Independence -

Many can go to school, have conversations, read books, learn new ideas, and finish tasks by themselves or with minimal assistance.

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Support groups -

If, for whatever reason, you are looking to learn more about fragile X, you might consider joining a support group.

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National Fragile X Foundation -

There are also organizations such as the National Fragile X Foundation that you can reach out to for further advice and resources.

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Websites -

For parents that have recently discovered their child has fragile X, there are plenty of websites out there that can provide great advice on how to care for them.

Sources: (WebMD)

See also: Prader-Willi syndrome—the rare condition affecting infants and children

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