Alexandra was born with multiple physical health defects in 2006.
She has survived over 30 general anaesthetics, including at least 10 operations. She was under the care of more than 10 specialists, whose area of expertise ranged from Cardiology, ENT and Gastroenterology, to Respiratory, sleep medicine, Neurology, Genetics, Paediatrics and Orthopaedics.
All before the age of three.
Alex was slow to meet her milestones, sitting at 18 months and walking just before her second birthday. Doctors referred to her development as ‘globally delayed’ (or global developmental disorder), meaning she was behind across all forms of age relevant development. From early on, it was easy to see how strong willed Alex was; always making her intentions clear despite not speaking until she was five years old.
By the time she was looking towards schooling, Alex still did not have a diagnosis to explain the breadth of her health and developmental issues. Her many doctors were sure that there was an underlying genetic diagnosis waiting to be found, but were unsure if it would ever be realised despite numerous rounds of genetic testing.
At age four, I discussed schooling options with Alex’s paediatrician (who was a locum at our local hospital) and he suggested that Autism would be a possible explanation for Alex’s health concerns, but until her genetic diagnosis was established he didn’t want to go down that path. It made sense that, although Alex’s behaviours fit ASD, it would be better to wait and see if her behaviours and her medical issues fit together to form a syndrome of sorts.
As school approached, and we were still in the dark, Alex’s paediatrician again broached the possible diagnosis of Autism. We decided as a family that it was the diagnosis we wanted to explore to ensure Alex received the best opportunities to grow at school.
Alex was assessed by a speech pathologist, child psychologist and an occupational therapist who all believed that Alex fit on the Autism spectrum. With severe delays in speech, gross and fine motor and social skills and borderline intellectual impairment, she appeared to present very clearly as an Autistic child.
So, with reports in hand from three independent specialists, the paediatrician signed off on the Autism paperwork and Alex’s school then had access to a verification and therefore, funding for support throughout her education.
Initially school was very challenging for Alex. She struggled with the social concepts and academic expectations. But after a change in schools, Alex has absolutely flourished. Whilst she is still currently working to a Grade 1 standard, her Grade 5 mainstream teacher is a wonderfully supportive influence and Alex is always aiming to please. Having a teacher so driven to see her student succeed is the difference in a child like Alex.
When she is not in the mainstream class, Alex attends special education support in the ‘Cubby’, the schools Special Ed Unit (SEU). Classes such a cooking, social skills, typing and one-on-one revision has really set Alex up to succeed. Having the Autism diagnosis has made it possible for Alex to access these supports. Without the diagnosis the school Alex attends would not receive funding, making it extremely hard financially to provide such intensive support.
It wasn’t until Alexandra was 10 years old that a further round of genetic testing, involving blood samples being sent to a laboratory in America, identified a defect in Alex’s DNA which is named Coffin Siris Syndrome (CSS). Her particular strain of Coffin Siris Syndrome is ARID1B.
Alex is one of approximately 150 people worldwide who are diagnosed with CSS, a rare genetic disorder that affects multiple systems of the body. Common symptoms of CSS that Alex presents with are short stature, harsh facial features, excess body hair, heart defects, feeding difficulties, intellectual impairment, epilepsy, behaviour issues, Autism, orthopaedic abnormalities, airway difficulties and central sleep apnoea.
Listen: Vanessa Cranfield talks to Mia Freedman about raising a child with a disability (post continues after audio...)
Since Alex’s diagnosis I have been in contact with other parents of children with CSS and they all report that their child has either been previously diagnosed with Autism or shows Autistic traits that would enable a diagnosis if they weren’t already diagnosed with CSS. While it was extremely important to receive Alex’s CSS diagnosis so that we have a clearer picture of what to expect for Alex’s health in the future, CSS is not recognised by any support agency in Australia, meaning Alex would receive no school funding to aide her education, no disability support or resources through government agencies and no understanding from her peers or educators.
Despite obvious traits, if a disability is not named on a list of supported disabilities, it seems that a person is overlooked even if they require support. Alex is lucky that she has an amazing support team behind her including a brilliant paediatrician, compassionate special education unit staff at school, specialists at multiple hospitals and an array of friends and family who want the best for her future.
The importance of Alex’s diagnosis of Autism in regards to her education is immeasurable. Without it, Alex would have missed out on support and intervention that has undoubtedly advanced her abilities.
Prior to gaining the understanding from educators at her previous school, Alex was looked upon as a naughty child who was threatened with suspension and isolation.
Now, Alex receives one-on-one, personally tailored programs aimed at helping her succeed in goals that will benefit her future.
Peta is a guest on tonight’s episode of Insight at 8.30pm on SBS, which explores the impact of autism diagnosis on individuals, families and the system.