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Fragile X Syndrome is the most common inherited cause of learning disabilities, yet there is still relatively little awareness of the condition and how to effectively support people with the condition. Becky Hardiman reports.
For most people, birthdays are a time of enjoyment and excitement when they get to be the centre of attention for the day. But for some, such as Henry, who have Fragile X Syndrome – a genetic condition that can cause a range of issues with learning, attention, language and behaviour – birthdays are a trial and can cause stress, anxiety and meltdowns.
Henry, aged 22, found that birthdays were too much to deal with. “Even receiving a birthday card in the post leaves him overwhelmed, though he normally loves getting post,” says Jane, Henry’s mother.
He isn’t alone. Dr Marcia Braden, a Fragile X expert in the United States, noticed that many people with the condition experience birthday meltdowns, such as bursting into tears at hearing the birthday song. Being in the direct limelight is just too much. For some, this even extends to direct compliments or questions in day-to-day life.
Nevertheless, Jane and her family were determined to make Henry’s 21st birthday a memorable event – for the right reasons.
“So, the celebration would need some planning,” Jane says. “We needed a way that would allow us to celebrate the occasion without the attention being on Henry. So, we decided to hold a party for the fictional ‘Frank’.
“We organised a party with all of the things that Henry liked and avoided balloons, which cause him anxiety because they might pop. We also asked that everyone came in fancy dress because, as well as giving Henry a chance to do something that he loves, it gave him an extra disguise to hide behind.
“Receiving individual gifts also brings the focus onto Henry and we didn’t want that to be a stress for him. So, instead, everyone gave donations towards a trip to Disneyland, which we would be able to – and did – enjoy later on.
“Many of our family and friends gathered for the evening and Henry, looking amazing dressed as Captain Hook, was able to get involved in the celebrations and have a wonderful time, without the focus of everyone’s attention. We had a chill out room where he was able to go for some time out, but he hardly needed it and was able to stay at the party long into the night. After Henry left, we were able to sing him happy birthday and toast to what had been a wonderful night.
“The greatest testament is that he still asks about Frank’s party, and whether we can do it again!”
About Fragile X
Henry is one of about 15,000 people in the UK who has Fragile X Syndrome. Fragile X is the most common inherited cause of learning disabilities affecting about 1 in 4,000 males and 1 in 6,000 females. A further 1 in 250 women and 1 in 800 men are carriers of smaller mutations of the Fragile X gene, meaning that future generations of their family may have Fragile X Syndrome, or that they themselves may experience Fragile X-associated emotional or health problems. Yet despite this high prevalence, there is relatively little awareness of the condition among the public and professionals.
Men and boys tend to have more severe effects of Fragile X, but the social and emotional characteristics of the condition may seem more pronounced for women and girls, who may be otherwise more independent. You cannot tell that someone has Fragile X based upon their appearance – although characteristic facial features include an elongated face and prominent ears – the only way to tell for definite if someone has a condition is to do a genetic test.
Why is it important to understand Fragile X?
The Fragile X Society believes that people can be given the best support when the characteristics of their condition are taken into account. People with Fragile X are, of course, individuals first and foremost. But there are strong tendencies towards particular patterns of strengths – such as good imitation skills, visual learning and long-term memories – and challenges including short attention span, distractibility, impulsiveness, restlessness, over-activity and sensory problems. When the effects of these for each individual are understood, changes can be made to the environment and the way that family, friends and support workers act to help people with the condition get the most out of whatever situation they may be in.
One of the key features of Fragile X is that people’s nervous systems are wired in a way that is hyper-excitable, which has widespread effects on thinking, learning and behaviour. This includes problems with focusing attention as well as inhibiting thoughts and actions.
However, perhaps the most prominent effect is that people with the condition are highly prone to experiencing anxiety and hyperarousal. In fact, more than three quarters of people with Fragile X meet the criteria for having an anxiety disorder. As a result, people’s experience of day-to-day situations and sensory events can be so heightened that they become completely overwhelming, leading to behavioural meltdowns and of avoidance of the situations that may elicit these intense feelings.
Social situations – such as birthday parties – can be particularly strong triggers for this anxiety, especially when unfamiliar people or places are involved. To help prevent or cope with hyperarousal, many people with Fragile X will show autistic-like behaviour. Avoiding eye contact is a particularly common trait of Fragile X, and can be a way that individuals manage to regulate their emotions around others. These autistic-like compensatory strategies tend to be more exaggerated in individuals who have more severe learning disabilities, who may be less able to cope with or disguise their issues with anxiety.
These patterns of behaviour mean that about a third of men and boys with Fragile X meet the criteria for a diagnosis of autism; making it the most common known single-gene cause of the condition. In fact, cases of Fragile X account for about 5% of the total number of cases of autism. However, there are key differences between Fragile X and autism more generally. The core issue in autism is problems with social interactions. But people with Fragile X, behind their anxiety, tend to have a very good understanding of other people and their emotions and want to be involved.
Simple changes to the way that family, friends and support workers act can be helpful to support people with Fragile X to overcome their anxiety. For example, many find that it is helpful to minimise the amount of eye contact that you make at first, until the person is able to feel more comfortable to make eye contact, if they would like.
As Jane and Henry’s story demonstrates, this can be done and people with Fragile X Syndrome do not need to miss out on the opportunities that others may take for granted because of their condition.
Braden M (2014) “Happy Birthday” Meltdowns and Other Behavioral Conundrums. Available at: https://fragilex.org/2014/treatment-and-intervention/happy-birthday-meltdowns-and-other-behavioral-conundrums/#sthash.ekbD9gBS.dpuf
About the author
Becky Hardiman is CEO of the Fragile X Society