'Some are alarmed my 12yo is in a medical cannabis trial. But life is difficult enough.'

We celebrate when my 12-year-old daughter Rebecca puts her school uniform on without refusing, when she doesn’t swear at her teachers or peers, and doesn’t lift up her dress to seek attention.

A good day is when Rebecca doesn’t throw herself on the ground in a tantrum or say she won’t go to her weekly after school therapy sessions. Most mornings, I feel like I have run a marathon before we get out the door.

Rebecca is more than a handful and that is okay, I love my daughter, she is my shining light. I’ve learnt to adjust my barometer of what’s ‘normal’. Rebecca has a rare genetic condition called FOXP1 Syndrome which is neurodevelopmental and behavioural in nature.

It took us nine years before doctors confirmed Rebecca’s diagnosis. No parent should have to wait that long or longer, when we have genome sequencing testing which yields a 30-50 per cent diagnosis rate. The trouble is, the test is not funded by Medicare.

Rare conditions are difficult to diagnose because for that exact reason, they are rare. Rebecca was the 13th person diagnosed worldwide with FOXP1 Syndrome. Now we estimate there are 100 because genomic sequencing testing makes it easier for a geneticist to pinpoint the disease-causing gene variant.

Symptoms include: dysmorphic features, global development delay, intellectual disability, issues with speech, poor fine and gross motor skills, impulsiveness, low muscle tone, autistic like features, anxiety, ADHD, obsessive compulsive traits, sensory reactivity symptoms and other significant behavioural problems.

Rebecca takes longer to learn things because of her cognitive ability and she has difficulty controlling her emotions which can lead to some pretty extreme behavioural issues and safety concerns.

I can cope with the intellectual disability and the language issues, but the behaviour is the hardest thing to deal with. This is why we are taking part in a pilot trial to determine if medical cannabis can help curb her extreme behaviour.

The Murdoch Children’s Research Institute (MCRI) trial uses medical cannabis produced by Tilray, a global leader in the field. It is a pilot study to see if it is possible to run a large scale in the future.

The 2012 ABS data shows that four percent of children aged 0-14 have an intellectual disability. It is unknown exactly how many of these children have behavioural issues as well, but I imagine it would be quite a few.

There is very little research into suitable treatment plans and medication to help our children and support the families to cope with what can sometimes be extreme behavioural concerns.

I’m hopeful medical cannabis will prove to be an effective therapeutic treatment, where other medication has failed. As Rebecca’s behaviour escalates, we continue to increase the quantity of Fluoxetine which is a Prozac and is used to treat depression and OCD. Like most commercial anti-depressants it comes with unwanted side effects such as sleep difficulties and anxiety.

Some people may be supportive of medical cannabis while others may be concerned and alarmed that I would allow my daughter to participate in this trial. I believe in supporting research that has the capacity to lead to better treatment plans for people like my Rebecca.

Life is difficult enough when you have a child with a rare disease so why wouldn’t I support a clinical research trial that could help her. I think there is just so much misinformation and lack of can close some people’s minds to this treatment.

A cannabis plant produces between 80 and 100 cannabinoid chemicals. The two main cannabinoids with therapeutic benefits are tetrahydrocannabinol (THC) and cannabidiol (CBD).

THC has strong psychoactive effects, meaning it makes a person ‘high’, whereas CBD has no psychoactive effects. Only CBD which has the therapeutic benefit is being given to children taking part in this trial.

MCRI’s study has seen ten children undergo a 74-day course of CBD in the form of oral peppermint-flavoured liquid. Half of the trial participants received CBD, the other the placebo. We hope that the results from this trial pave the way for a larger research study.

Rebecca's diagnosis inspired her mum Heather to set up Syndromes Without A Name (SWAN) Australia, a not for profit charity which provides information and support to families who care for a child with an undiagnosed or rare genetic condition.