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  • Writer's pictureStacey Smiler

What is a Genetic Disorder?

In celebration of Jeans for Genes Day (last Friday) which raises awareness about incurable genetic diseases, I thought I would write about what it means to have a genetic disorder...and having a child with a genetic disorder.

A genetic disorder is a health problem caused by abnormalities in the genome. But how? the gene has a single or several mutations depending on the genetic disorder. Why? there are multiple causes such as inherited genes from parents, environmental factors, damage to chromosomes or sometimes random mutations occur.

In Keanu's case his genetic mutation is random or 'de novo' meaning not inherited from Jordan or myself. There are so many genetic conditions, over 6,000!! but some of the ones you may have heard of include Cystic Fibrosis, Down Syndrome, Sickle Cell Anemia.

Credit: @rsp_photographystudio

Genetic Testing

In June 2017 I received an email informing us that Keanu's genetic test results were ready, we had taken part in a university research study with the University of Hong Kong (while living there). At that time we were living back in Australia but had been planing on spending time in Hong Kong for their summer so we flew back and met with the geneticist.

Keanu had taken part in the research in late 2015 due to his epilepsy, they wanted to find out why these seizures were happening. You can read more about that here.

The Genetic Test Results

Keanu's test results came back saying he has a CHD2 gene mutation. This gene is thought to be responsible for developing neurones in the brain. Diseases associated with this gene include early-onset (juvenile) epilepsy. The multiple different types of seizures associated with this epilepsy can be hard to treat and resistant to medication.

Luckily, we have found a combination of 3 medicines that Keanu takes twice a day and he has been seizure-free since November 2017. His diagnosis gave us answers and also a sense of relief...we now had more information to work with.

What are the effects?

The effects of Keanu's seizures have meant parts of his brain have been affected. Sadly a lot of the learning he acquired between the ages of 0-2 years was lost due to seizures and he showed a regression in childhood skills. For example, he was always slower to hit milestones, but he had around 5 words which all disappeared. His play and communication skills also declined as his behaviour turned very irritable and unsettled.

Some of these side-effects were also due to the medications, with epilepsy it is hard to find balance, medicines can make the child lethargic and fatigued easily while on the other hand they also keep the seizures under control.

Other effects of CHD2 are (relating to the above) developmental delay, autism and intellectual disability. Low muscle tone and smaller stature can also affect some people with a CHD2 diagnosis. Keanu is quite small for his age although he has certainly shot up over the last year!


The CHD2 gene was only discovered to be linked to epilepsy in 2013. As a result research is still in its infancy. It's fascinating that we are learning alongside the researchers and geneticists! As research is still developing we learn from other parents through a CHD2 Facebook support group.

As far as prognosis goes we are still not entirely sure how Keanu will develop, it is likely he will need support into adulthood...we are grateful to know that those closest to Keanu understand him really well and this definitely aids us all in making our day to day life easier.


If you know anyone with a rare genetic condition I suggest:

1. Learning as much as you can about the condition to assist them;

2. Reading social cues is important...they may be overwhelmed and want to take their mind off it

3. Find them individuals/groups they can connect, empathise and interact with (if they haven't already!).. E.g. Online support group, charities.

Please let us know if you, or someone you know, have a rare genetic condition and you would like to share your story. We would be so interested to hear from you and learn more!

Thanks for reading, pleaseeeee don't forget to subcribe!!

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