A routine school eye test marked the beginning of a life changing journey for Eva and her daughter, eventually leading to a diagnosis of an ultra rare condition AARS2.
Eva first discovered something was wrong when her daughter had a routine eye test at primary school in Southwark, South East London. They were invited for a follow up appointment.
“Naturally, I just assumed she needed glasses but the ophthalmologist said ‘Can’t you see your daughter has nystagmus?’ I had never heard of nystagmus before – it even took me a while to learn how to say the word! I soon learned that it means rhythmic, repetitive, and involuntary movements of the eyes.”
Things moved quickly after that. The next day they were sent to A&E for further assessments. She underwent several tests, including an MRI and a lumbar puncture and doctors picked up a slight tremor.
“It all felt very sudden and daunting. Only 24 hours before she had been at school and we were blissfully unaware. Once we were home, I began looking back through old videos and realised that her nystagmus had actually been there for quite some time. It was subtle and it almost looked like she was fluttering her eyelashes, but I could now see a small vertical eye movement.”
As the appointments continued, doctors explained that there had to be an underlying cause. She underwent several different genetic tests looking at specific gene panels, but none of them gave any answers. Their neurologist suggested Whole Genome Sequencing which would allow scientists to examine her entire genetic code. This test confirmed a rare condition called AARS2.
“AARS2 is very rare. There are only around 50 cases known worldwide and my daughter is the only child known to have her exact gene combination, making her case truly ultra rare.”
AARS2 is the name of a gene that provides instructions for making a mitochondrial enzyme called alanyl-tRNA synthetase 2. The condition means that the enzyme doesn’t perform correctly so some cell processes don’t function as they should. Whilst each case is very unique, it’s a neurodegenerative condition that can affect many parts of the body, particularly the brain.
“With rare and ultra-rare genetic conditions, there isn’t a lot of information available to people and their families. Luckily, I found a charity called CureARS which became my main source of information. I’m now passionate about helping other UK families to discover them too.”
Eva’s experience of learning about genetics and her daughter’s condition has led her to get involved with Genomics England as a patient advocate.
“Patient advocacy has been a transformative change for me. Although I had not worked with advocacy groups before, I felt able to contribute and share my experience navigating the diagnostic journey.”
Eva works alongside other people with lived experiences of genetic conditions. Together their experiences create an invaluable source of information and a driver for improvement.
“Realising that I am part of this bigger community has been incredibly useful and meaningful. One of the most important takeaways I have found is the need for diversity in genomic datasets. Both my parents are Greek which is why I feel my daughter’s variant wasn’t represented in existing databases. This lack of representation highlights why broader participation is key, and it is an area where I feel I can make a difference.”
At home, Eva’s focus is on spending quality time with her children and being attuned to her daughter’s needs.
“While her condition is very rare and awareness is limited, there is so much in the world of genomics that gives me hope. Things are moving rapidly and more people are getting diagnoses than ever before. Scientists across the globe are collaborating and I am particularly excited about how AI is uncovering patterns in the data that could make a real difference for patients and families.”
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