Carriers of Fragile X do not suffer from the symptoms typical of those affected with the full mutation of the syndrome but they may be impacted by the following conditions:

FXTAS

A progressive, neurological condition affecting some male carriers of fragile X over the age of 50 has recently been identified. It is called Fragile X-associated Tremor/Ataxia Syndrome (FXTAS) and is characterised by tremors, balance problems and dementia that become worse with age.

Research suggests that as many as 30 percent of male carriers may develop FXTAS later in life. Initial signs of the disorder may include difficulty writing, using utensils, pouring water and walking. The symptoms progress over years or decades, until many daily tasks become extremely difficult. There may also be short-term memory loss, anxiety, decreased sensation to touch in the lower extremities and rigidity in movement. It is common to find these males misdiagnosed as having Parkinson’s disease, senile dementia or Alzheimer’s disease. Studies are underway to determine the best methods of treatment for the condition.

The National Fragile X Association (USA) have comprehensive information on FXTAS and FXPOI and forums specifically for discussion of these subjects and for mutual support.

FXPOI – Fragile X-associated primary ovarian insufficiency

Female carriers may suffer from FXPOI (Fragile X-associated primary ovarian insufficiency) which is a problem which can lead to infertility and early menopause in some female gene carriers.

Support for Newly Diagnosed Carriers

Finding out that you are a carrier for any genetic condition can be challenging, but when the condition you have is the most common cause of inherited intellectual disability and you learn you have a 1 in 2 chance of having an affected child, it can be especially confronting.

As well as personal support via this website and our state groups one of our members, Simone Zaia, has kindly offered to provide information and emotional support for newly diagnosed carriers of Fragile X and here is what she has to say:

Hi, my name is Simone. Mid 2007 and as a consequence of cascade testing done in response to the diagnosis of my cousin’s second born, I learnt that I was a pre mutation carrier of Fragile X.

In the wake of receiving this news I experienced a whole gamut of emotions including

• loss and grief for my cousin, her son and family and for what the diagnosis could mean for them now and into the future
• relief and gratitude that I was forewarned that I was a carrier and that circumstances had meant that I had not yet commenced having children of my own;issues related to identity and feelings of self worth
• anxiety regarding reproductive options
• anxiety about the potential health effects of the disorder for carriers
• anger and feelings of injustice regarding the transmission of this condition to me by another family member, when other family members had been spared.
• anger about the lack of broader awareness within the community regarding Fragile X
• anger at what I perceived to be a lack of commitment to prevention within the health sector and more broadly at a political and community level.

As a carrier who had not yet had an affected child, that there were limited avenues of support available to me to help me work through the ramifications of the genetic testing for me. Justifiably so, the bulk of the support available was stretched simply trying to meet the needs of families with affected children but I still felt compelled to do something to address the unmet needs of newly diagnosed carriers. With a background in Social Work, I am willing to be a source of support and a resource for carriers who feel they may benefit from contact of this sort. Working full time I am unable to provide an immediate or crisis response to carriers but am willing to respond to messages left on my mobile 0408 683 597 and/or e-mails sent to simonezaia@unwired.com.au outside of working hours.

Support provided is not intended to replace that which can be obtained from a genetic counsellor or specialist genetics and/or medical practitioner.

Kind regards, Simone Zaia.