A young child wearing a purple paper crown and glasses is cuddling a blue toy and smiling for the camera.

Ruby’s Story

When Ruby was 9 months old I noticed one of her eyes shaking, which prompted me to visit our local optician. They informed me that they didn’t treat children that young and we were advised to go to our local eye infirmary. From our visit to the eye infirmary everything is a blur, as we were taken from the eye infirmary to our local hospital and then to another hospital where we spent a few days. Words like cancer and tumours were thrown around as I think consultants and doctors were very worried that there could be something in her brain causing the eye wobble- which at this point had started in her other eye too. Luckily for us all of Ruby’s tests and mri scan came back clear and she was eventually diagnosed with spasmus nutans. Appointments were arranged for Ruby to be seen by ophthalmologists at our local eye infirmary and we were relieved that the ordeal was over. Fast forward to the ophthalmologist appointment and we were informed that Ruby’s eye wobble was called nystagmus and she needed glasses to correct her vision. We didn’t question anything, as a glasses wearer myself I thought that her vision was probably like mine and that the glasses would correct her vision and she could see fine. Turns out that was not the case, as at Ruby’s next ophthalmologist appointment we were asked if we’d like to register her as visually impaired. I think this came as a shock to me and her dad as up until this point we hadn’t questioned what nystagmus was or her ability to see. From that appointment came a lot of other appointments with geneticists and pediatricians. The genetic testing came back with only one fault in a gene, but luckily our geneticist got us on a pilot RNA testing scheme which eventually came back and confirmed that there are actually 2 faults in the CEP290 gene and that Ruby has Leber Congenital Amaurosis (LCA). Ruby’s peripheral vision and colour vision is affected by LCA, she has nystagmus and photophobia. The diagnosis and journey so far has been really tough, but being able to turn to charities like nystagmus network and guide dogs has been amazing for us. Looking through your website and social media has enabled us (Ruby’s parents) to see that a diagnosis of vision loss isn’t the end of the world and that Ruby will be able to live a fulfilling and happy life, just as anyone would want for their child.

Ruby has just turned 5 and started Reception in September 2023- which she is loving! Her favourite colour is purple. She loves the BBC tv show dog squad and can’t wait till she can get a guide dog as she thinks that they are amazing. She has a cane called “Poppy the Flower” which she often takes to school (although all of her friends always want a try so she doesn’t do it often). And even though she has many trips and bumps (nearly every day) she is determined to keep up with all of her friends and doesn’t let anything get in her way.

 

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