Coping with a child's rare intellectual disability- 'Sam said his first word this week and I couldn't believe it'
As part of a campaign to highlight Rare Disease Day, Sarah and Colin Anderson tell our reporter about their struggle to get a diagnosis for their son Sam, and the very real difficulties the three-year-old now faces
When Sam Anderson stands in front of a spinning washing machine, he gets really excited. He laughs, flaps his hands and jumps up and down. No one really understands why he gets a buzz from such a mundane occurrence. "It's difficult to work out what he's experiencing," says his mother Sarah. "But it's clear that he processes the world differently."
Sarah met her husband Colin in 2011, at the bank in Blackrock, south Co Dublin, where they both work. A year later the couple, who are now in their late 20s, married. As newlyweds, they were naturally excited about the imminent arrival of their first child. Sarah says the pregnancy and birth were pretty flawless. But as the months rolled on, suspicions began to surface. "Sam didn't sit up unaided until he was 11 months," she says. "But, perversely, two weeks later he crawled."
However, Sam's response to the toys he got for his first birthday unnerved his parents. "The ones with the flashing lights and whistles just drove him crazy," Sarah recalls, "but at the same time, he seemed to crave them."
Nonetheless, by 14 months, he seemed to tick all the boxes. "He looked fine, he seemed happy and he wasn't withdrawn," says Sarah. But doubts remained because Sam still wasn't walking. When he was about 18 months old he was measured and weighed by the public health nurse. "The area medical officer happened to be present at the time," says Sarah, "and she observed some of his unusual behaviour, such as hand flapping and shouting. So she referred us to Tallaght Hospital."
But with no sign of a swift appointment, the Andersons decided to get a private assessment done. That's when a diagnosis of autism was made. The psychiatrist also gave them a note with Fragile X syndrome (FXS) written on it, and suggested they have Sam tested for it. Sarah had absolutely no idea what this was, and promptly forgot about it, but a week later the note resurfaced. "When I'd finally come down from the diagnosis of autism, I found that piece of paper and looked up FXS on the internet. Some of the stuff I saw was really scary, so I thought, 'no way', and put it to the back of my mind."
A year after it was first requested, the Andersons got an appointment at Tallaght Hospital. "They did blood tests and they also checked Sam for FXS," says Colin. "Finally, in June 2015, we learned that he did have the condition. It is caused by an expansion of a gene we all have on our X chromosome."
According to Maria Tanza, chairman of the Irish Fragile X Society, this is an inherited intellectual disability that occurs in approximately one in 4,000 males, and one in 6,000 females. When a child is diagnosed with the condition, there are wider implications because it is an inherited condition. "There may be other family members affected by the gene," explains Maria. "FXS carriers are at risk of Fragile X associated disorders, such as FXTAS [tremor/ataxia syndrome] and FXPOI [primary ovarian insufficiency], which are commonly under-diagnosed.
"Behaviours seen in our children are a result of their neurobiology, so understanding hyper-arousal, a feature of FXS, is the key to a better understanding. We know children with FXS hear 10 times louder than most people. Thankfully, there are many support strategies we can put in place to assist them."
Sarah explains that following the diagnosis, the family returned to Tallaght Hospital and received much useful information. Right now, this uncomplaining and upbeat young couple have their hands full working full-time, while caring for Sam (3) and his little sister, one-year-old Lucy, at their home in Lucan, Dublin. However, they are extremely lucky to have two wonderful grandmothers helping them, who live close to the bank where they work. "Eileen [Anderson] has Sam, while Jackie [McKell] has Lucy," explains Sarah. "They are both life-savers."
Nonetheless, evenings and weekends are hectic, given Sam's often very challenging behaviour. He shouts, has a potentially piercing scream, bangs things about, and can be very disruptive. During the course of this interview he indicated that he wanted the washing machine turned on, and when Colin did so, he became very animated and excited, jumping up and down. Sam laughs, smiles frequently and gets excited by the simplest of things; it's impossible not to love this little guy. "He's very warm and affectionate," says his proud dad. "But he's also exhausting. He never sits still. He's best in a big open field where he can run around."
Sarah says Sam is pre-verbal rather than non-verbal; so with no common language as yet, it's difficult to work out exactly what he is experiencing. What is clear is that he processes the world differently, and that causes him a great deal of stress. "Things might be far too noisy, or lights too bright for him," explains Sarah. "So when he is overwhelmed, he may resort to behaviours that are challenging and disruptive."
Colin says that although Sam would love to be friends with other children, he has great difficulty integrating because of his unusual responses. "I watched him approach some kids once, hoping to play with them. They glared at him, made faces, and then walked away. He looked so dejected. I ran inside and burst into tears; I felt so terrible for him."
At the time of this interview Sam had just started at the ABA pre-school, at Queen of Angels National School in Sandyford, and was loving it. Here they cater for children with autism and related conditions, through the medium of applied behaviour analysis (ABA). They help their pupils communicate and grow at a pace that suits them. Sam also needs intensive speech and language therapy, and occupational therapy to help with gross motor skills.
"The day Sam was diagnosed, I joined the Irish Fragile X Society," says Sarah. "Maria Panza pointed me in the right direction to get the supports he needs, and that's been a godsend," she says.
Later, while checking a few details with Sarah on the phone, she interjects: "Sam said his first word this week! He was jumping up and down on the bed when he suddenly started shouting 'bou,' for bounce. I couldn't believe it," says his immensely relieved and proud mum. "Not being able to communicate is so tough for him."
And so, a very big breakthrough was made.
For more information about the Irish Fragile X Society, see fragilexireland.org
Sunday Indo Life Magazine