Autism Spectrum Disorder: A journey with unique challenges
Published 06 September 2019
Kathy Hyde, the mother of ten-year-old Patrick, knows all too well the challenges faced by families living with autism spectrum disorder (ASD). Patrick was diagnosed when he was four years old. Kathy hopes that by telling his story, she will increase understanding of the unique obstacles faced by each individual living with ASD and their family, and what can be done to provide further support.
Being bounced or prodded out of sleep by an energetic child is challenging for any parent, even after a full night’s rest. But when that child also woke you two hours earlier, and two hours before that – and can’t communicate why they do this night after night – it is beyond exhausting. Kathy most nights shares a bed with Patrick, because it provides him with the comfort of knowing someone is there with him. Yet, her commitment to do the best by her son places a significant strain on the family. As Patrick grows older, a mounting awareness of his differences is putting a strain on him as well. Kathy explains, "friends and socialising are the hardest. He has two friends and his younger brother has many more friends and playdates. It makes him sad a lot”
ASD is a lifelong condition which affects how an individual behaves, communicates and interacts with others. Often, they may find it difficult to initiate conversations, exhibit repetitive behaviours and have restricted interests, but precisely how these core traits play out is deeply personal.
Kathy was once told: “Your son doesn’t look autistic”. She emphasises that there is no ‘look’ to ASD – everyone is different – and a person’s identity isn’t undermined by the challenges they face. Although there has been considerable progress in the public perception of ASD, there is still a lot of work to be done before the condition is fully accepted and understood, she says.
Patrick was 18 months old when Kathy first realised something might be amiss with his development, as he was still not speaking any words. Whereas other toddlers his age were rapidly picking up language, he struggled to say simple words such as ‘up’ and ‘mum’. There was not much thought around ASD amongst the medical community at this time. Kathy consulted specialists, who suspected milestone misses and speech delay and referred him for speech therapy. The family also began learning sign language, hoping it might help him to communicate more easily.
However, when Patrick was three years old, Kathy spotted further peculiarities – such as lack of eye contact, sensory issues, and periods of high energy or ‘tornado-like’ behaviour – which she worried might indicate a deeper problem. Yet, in New York State, where the family lived at the time, these tests weren’t routinely available until children were six years old. Patrick’s opportunity came the following year when the family moved to Arizona, where testing of younger children was allowed. His paediatrician recommended seeking out a behavioural paediatric specialist once they moved to Arizona to have Patrick assessed for ASD. At aged four, Patrick was diagnosed with ASD and attention deficit hyperactivity disorder (ADHD).
Creating a positive change
ASD affects approximately one in every 59 children in the US.1 Yet despite its prevalence, options to help individuals like Patrick to overcome the daily challenges they face remain limited and vary significantly based on location.
Patrick is fortunate to receive considerable support from his school, including speech, occupational therapy and assistance daily from the special education teacher. He also has a computer with speech recognition enabled to support him with class work, assignments and test-taking. "Speech therapy has helped a lot – he stutters less and is able to get words out,” says Kathy.
Even so, the older Patrick gets, the more he recognises his challenges, particularly around his social skills.
"It’s hard to witness this as his mum, because he gets depressed. He wishes he could help himself, but he can’t, so he gets frustrated and angry,” says Kathy.
Because Patrick also struggles to communicate his needs, Kathy must still bridge this gap for him in many situations, including at the school he attends:
When you have a kid with ASD they can’t tell you what they need 80% of the time. You have to be their advocate: you have to research their rights and stand up for them”.
Patrick continues to make progress though, and for every bad week there are also good weeks when he achieves personal milestones, such as progressing from taking liquid medicine to tablets. These give Kathy cause for optimism, and they are celebrated with rewards, such as building a model of a character from his favourite superhero movie. Kathy describes his ability to focus on a project and show pride in his work as very fulfilling for her.
There are many associated symptoms in ASD – including depression, anxiety, sleep disorders and cognitive impairment – resulting in a complex, highly personalised situation for individuals and families when they are considering intervention approaches. While there are therapies available to address associated symptoms, options for the core symptoms of communication difficulties, social challenges and repetitive behaviour remains a huge need.
The current standard of care for core symptoms can include behavioural therapy, however, there are no simple answers in ASD. No one approach will work for everyone and most individuals are likely to need a personalised, holistic combination to suit their needs.
Roche is using its in-house expertise in exploring brain circuit function to evaluate various pharmacological approaches to address this need and improve the ability of individuals with ASD to communicate with, connect and react to the world around them, including the processing of emotions, aggression and responses to social stress. Making the decision to embark on a treatment programme for any condition such as ASD is a personal one, and accessing any given treatment should always be at the discretion of the person affected, their loved ones and their healthcare team, says Kevin Sanders, MD, Global Head of Neurodevelopmental Diseases at Roche:
Think of it like reading glasses. You can see better with them, and it’s your choice to wear them or not. There will be some people for whom a pharmaceutical treatment will help, and they’ll choose to use it, and there’ll be some who will choose not to.”
Hope for the future
The complexity of neurological conditions, such as ASD, cannot be underestimated and it is often difficult to conduct clinical trials in individuals with this condition. However, Roche is committed to providing robust, quality research to add to the growing body of knowledge of ASD and is sponsoring clinical trial programmes across Europe and North America (Canada and the U.S). It is hoped insights from these trials will help us move a step closer to improving the lives of those affected by this condition who are seeking support with overcoming their challenges.
Kathy’s great hope is that Patrick will one day be able to live independently, without being held back by the challenges he experiences.