Evie’s story

The story of Evie

Evie was diagnosed with a very rare life threatening genetic condition called LPIN1 in April 2023 age 4 years old. Caused by both parents having the same gene. As its genetic Evie’s little sister Esmie also carries this gene but luckily she is just a carrier and won’t show any signs like Evie. LPIN1 can cause severe muscle breakdown and kidney injury. When Evie has muscle breakdown bad toxins are released into her bloodstream. Despite this, Evie is such a happy cheerful little girl, who enjoys being outside, school and doing ballet on the weekends. Back in march Evie had an episode which resulted in her being put on dialysis. Normal Ck levels (creatine kinase) in Evie’s age should be around 200. Evie’s levels were so high they wouldn’t read on the machine. It took Evie 2 weeks to be able to fully walk again without help due to muscle breakdown. LPIN1 is a very scary condition and can go from bad to worse very rapidly, which is why we need to be on ball on getting her to hospital as soon as we notice any signs. We still have many obstacles to overcome but we will and we will do it together as a family. We hope that one day there’s a cure or something out there to make this condition easier for the very few family’s living with LPIN1. “A disease may be rare, but hope should not be.”