Key Points
- Simra Khan was diagnosed with Joubert syndrome, a rare brain disorder that affects balance and coordination.
- Her mother, Fatima Mirza, says they didn't know where to turn for support.
- A researcher highlights that there has been significant advancements in diagnosing such conditions over the past decade.
Simra Khan is an active teenager who enjoys singing, playing the drums, swimming and riding horses.
"I love making friends and socialising," she told SBS Urdu.
However, Simra's parents weren't sure she would survive as a baby, let alone be able to walk or talk.
When she was not yet three months old, Simra was diagnosed with Leber's congenital amaurosis, a genetic eye condition that results in severe vision loss.
Around 12 months later, doctors diagnosed her with Joubert syndrome, after an MRI revealed a distinctive 'molar tooth' sign in her brain.
Despite facing hardships, the teenager has thrived within a supportive environment.
Simra enjoys singing, playing the drums, swimming and horse riding. Credit: Supplied
What is Joubert syndrome?
Occurring in about one in 100,000 births, Joubert syndrome is a genetic condition in which the area of the brain that controls balance and coordination is absent or underdeveloped.
People with the syndrome may also encounter developmental delay and complications affecting the eyes, liver and kidneys.
In 2015, Simra faced renal failure starting in February, necessitating dialysis, which led to her father Mohammad Iqbal Khan donating his kidney to her.
Simra's mother and primary carer, Fatima Mirza, said the family wasn't sure where to turn for support initially.
"When we got the diagnosis, I was determined to figure out what steps to take with limited knowledge and support options at that time," she said.
Simra discovered the importance of concentrating on tasks within her ability. We're thankful for the early intervention she received from the age of three months for enabling her to surpass expectations.Fatima Mirza
With her mother's assistance, Simra uses the latest technology to read and listen, but her core assistant is still Braille.
These days, she attends a mainstream school, but previously she went to a specialised school for visually impaired children from kindergarten to Year 7.
"Biology is my favourite subject," she said.
According to Ms Mirza, Simra is willing to share her experiences with others and will be a motivational speaker at an event in Sydney on the occasion of the (3 December).
For individuals like Simra, a precise genetic diagnosis marks the crucial starting point to comprehending the condition's biology, says a researcher. Credit: Supplied
Precise diagnoses needed
Professor David Amor leads the Neurodisability and Rehabilitation Research group at Murdoch Children's Research Institute and is affiliated with the Department of Paediatrics at the University of Melbourne.
He said that the power of genomic testing had made it possible to test all of the genes in the body in a single test.
This means doctors are now able to give specific diagnoses earlier in life, thereby opening the door to earlier treatment, as well as avoiding the “diagnostic odyssey” that so many families previously went through.
Congenital amaurosis and Joubert syndrome are ultra-rare genetic conditions and the last decade has seen a quantum leap in our ability to diagnose these conditions.Professor David Amor
"For affected individuals and their families, precise genetic diagnosis is the first step towards understanding the condition's biology and the hope of personalised and precision therapies in the future," he said.
"This is particularly relevant for inherited diseases of the retina, including Leber’s congenital amaurosis, where genetic therapy trials are already underway."
Tackling stigma
Princess R. Lakshman is a mental health counsellor and clinical nutritionist who runs Mind Body Healing Hub.
She said children with developmental disabilities and their parents could face widespread stigma.
Within migrant communities, she said it could be a major challenge overcoming the "culturally confined mindset", which tends to discriminate against those displaying even slight variations in their intellectual or mental responses to life.
Ms Mirza said that today her daughter was a talkative and humorous teenager "proudly embracing the typical challenges of adolescence".
But, looking back, she said only very limited support had been available 15 years ago.
There was no NDIS when my child was diagnosed with a rare genetic disease and the research-based knowledge and support were also very limited at that time.Fatima Mirza
Introduced in 2013, the NDIS () offers financial support to qualified individuals with disabilities, enabling them to spend more time with loved ones, enhance their independence, acquire new skills, pursue employment or volunteer opportunities within their community, and ultimately improve their overall qualities of life.
During her leisure time, Simra Khan finds enjoyment in listening to music and has forged several friendships at school. Credit: Supplied
"Entities like , , , and are among the resources families can turn to for assistance," she added.
It is crucial to actively promote and normalise these services because cultural and social stigma often leads to negative perceptions of individuals with mental and intellectual disabilities.Princess R. Lakshman
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Note: The National Disability Insurance Agency (NDIA) is an autonomous statutory body responsible for executing the NDIS.
