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About Christianson Syndrome
Christianson syndrome is a rare neurogenetic disorder that affects development from infancy. Christianson syndrome causes neurological dysfunction from very early in life, as well as the loss of brain cells starting early in childhood, particularly in a brain region called the cerebellum. This leads to epileptic seizures, intellectual disability, and progressive loss of coordination. Christianson syndrome was first described in 1999, and the genetic cause was only discovered in 2008. Because the cause of Christianson syndrome is still a pretty recent discovery, effective treatments have yet to make it to the clinic. However, because Christianson syndrome is caused by mutations in a single gene, it may be possible to improve quality of life with a "gene replacement" therapy. Lachie's Wish 4 CS aims to drive research into gene replacement and other therapies, improve our understanding of Christianson syndrome, and develop biomarkers that can be used in eventual clinical trials. We look forward to making that happen with your help!
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Lachie's Story
On April 3rd 2022 we welcomed our beautiful boy Lachie, joining his older sister Olivia to complete our family. Despite a smaller then normal head circumference and slow weight gain detected during an 8 week check up, Lachie was otherwise healthy and developing so no concerns were raised by ourselves or our GP. Over the next few months Lachie continued to develop and grow at his own pace.
In January 2023 while we were visiting family, Lachie had his first seizure in the middle of the night. We attended the local hospital for observation and with no identified cause and no further seizures were discharged to follow-up with our GP. With still no cause, we were referred to a paediatrician for assessment. One week prior to our appointment in February Lachie had his second seizure. We called an ambulance and were taken to our local ED, Fiona Stanley Hospital. Here Lachie went on to have a further 2 seizures and we were admitted for more thorough testing. It was noted that he also had microcephaly and global developmental delay.
This began our long journey to a diagnosis. MRI brain and initial genetic testing were normal despite EEG showing abnormalities. Later in the year Lachie’s neurologist ordered more specific genetic screening of epilepsy related genes. It was a few months later in January 2024 we received the results that Lachie had a mutation in the SLC9A6 gene, leading to the diagnosis of Christianson Syndrome. After almost a year there was finally an answer to Lachie’s medical and development concerns. However, as we were informed by the paediatrician and then found ourselves, CS is rare and there is limited information and research available.
Working Towards Treatment Options
There is currently no cure or treatment options available just supportive therapy and symptom control. This was quite upsetting to hear and despite having a diagnosis it was still difficult with all the unknowns. After the initial shock, I continued to search to try seek out more information about CS in order to understand as much as I could to help Lachie.