Lachie was born on April 3rd 2022 and appeared healthy and developing well in his first few months of life.

In January 2023 at just over 9 months old Lachie had his first seizure. After an ED visit and no obvious cause we were referred back to our GP and then onto a paediatrician to check everything over.

A few weeks later, while awaiting our paediatrician appointment Lachie had another seizure and was taken to ED via ambulance where he then went on to have 2 further seizures and be admitted for investigations. It was noted that he had microcephaly as well as global developmental delay.

This began our journey to diagnosis. MRI and initial genetic testing came back normal and it wasn't until his neurologist completed a specific genetic test for epilepsy related genes that we received his diagnosis of Christianson Syndrome in January 2024, a year on from his first seizure.

Since diagnosis we have done our best to try find out as much as possible about this rare condition with no known cure and treatment options. Today at 4.5 years old seizures continue to be the biggest concern with multiple medications required to try keep them under control.

Despite this he is a happy and active boy who is determined to get the most out of life and develop as many skills as he can.

 What is 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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