ELLIE and REBECCA’s STORY
I am the mother of four beautiful children, our first two of whom died as a result of Lpin1.
Rebecca, my first-born, passed away in 1990 aged 2 and a half. Then 4 years later we lost our second daughter Ellie age 4.
As far as the symptons went for my girls, it was all so sudden. Rebecca died without having any previous symptoms. She went to bed feeling a little off colour, hadn't eaten tea, and must have had a fever in the night. She woke in the morning and was woozy, couldn't walk straight and couldn't speak properly. I went straight to the doctors and they rushed us to hospital in an ambulance. She went straight into the Emergency Room, and there they worked on her for around an hour. We waited, and they finally came in to say she had passed away due to Rhabdomyolisis and Hyperkaelemia . They never really gave an answer to our question of why.
Then 4 years later, our 4 year old daughter did almost the same thing. Went to bed not eating tea....woke up woozy, I again rushed to the doctors. Straight into the ambulance and off to Emergency. Once we were there, i told them about Rebecca and to keep an eye on the levels of her potassium etc. They WERE able to stabilise her for about two hours, shifted her to the ICU unit, but things didn't stabilise for long. She started excreting red urine and blood levels went off the chart.... they were monitoring all the levels but all of a sudden she went into cardiac arrest . She died after they had tried valiantly to restart her heart.
All through the following years, we panicked if our two other children got sick, spending many nights in the childrens hospital, and ALWAYS making sure they ate before they went to bed. As they both got older, we were able to relax a bit, thinking that their bodies would be stronger if they had whatever Rebecca and Ellie had.
Three weeks ago, we found out what that was.
We have had them both tested.
Our 14 year old boy is clear of both parts of the gene.
Our 19 year old daughter is a carrier.