Milly-Rose was born in 2016, a gorgeous 8lb 6oz bundle of joy, and the centre of mine and my husband’s universe from the second we met her. Milly-Rose had always been a very happy, active, and full of life little girl. She certainly kept us on our toes, running between horse riding, swimming, MMA, football and all the bits in-between. She was so kind and loving, clever beyond her years, and brought us so much joy.  

In February 2023, on the evening of Valentine’s day, Milly woke up feeling unwell, we knew that there was a sickness bug doing the rounds at school and had almost expected this to land at our door at some point. She was sick once and we settled her down and tucked her back in to bed for the night. The following day, we kept her off school, she was sick a further 4 or 5 times during the day, but I was managing to keep her hydrated between, and she would play with her dolls, did some colouring in her magazine, we watched some TV together and she played on her computer game. So whilst she was unwell, no alarms bells were ringing at this point.  

Milly went to bed, for the most part, like any other night. She woke up in the very early hours, we had a brief trip to A&E but were soon back at home tucked up, eating and keeping down some plain crisps and hoping we’d seen the worst of it.  

Only a few hours later, we had to rush Milly into the hospital, she was very clearly not well at all, but we didn’t expect what was to follow. Milly was cold, had no strength not even to hold her own head up, complained of pain all over and looked very poorly. She was treated for Sepsis/Meningitis and given antibiotics.  

Only 4 hours after, Milly passed away unexpectedly, and very suddenly in front of us, still in a bed in A&E.  

Admission blood samples showed no Sepsis/Meningitis, and her reports came back later as Norovirus and a cold. We just knew there had to be something more. Our 6 year old little girl was fitter than most adults, and certainly lead a very healthy lifestyle, we really did our best to ensure this.  

Wet met with the Genetics team at Manchester Royal Children’s Hospital, who advised us, that due to some of the blood results, (CK) being the highest seen in their careers, they highly suspected 1 of 4 inherited metabolic conditions. After reading into them all, I knew it was going to be LPIN1 before the results even came back.  

Retrospectively, Milly had suffered slightly with leg aches, after very long days or being on a trampoline. We had had these looked in to at the time, and they were deemed to be a combination of her being hypermobile, and growing pains as she was very tall for her age. Which when I had looked into the story of, the only other person I could find who had this condition, matched up with their passing being almost identically quick and sudden, around the same age.  

Another symptom is blood in the urine, and whilst this was never visible, we had thought we were treating 3 UTI’s the year before Milly passed away, and even took her to see a consultant urologist. No UTI’s were ever identified, traces of blood was found and was treated with antibiotics as a suspected UTI.  

She also had intolerances to dairy (from birth) and gluten (identified under general anaesthetic, which did result in us taking her back in when she was saying she couldn’t walk – again ruled as the GA wearing off and she did bounce back after some GF toast) and these were ruled out of her diet, and any tummy aches she suffered before stopped. We now know that the ‘fasting effect’ caused by being sick, general anaesthetic, or metabolic stress such as extreme exercise, would send someone with LPIN1’s body in to panic mode. Our understanding is that the cells break down, causing the contents to spill out into the blood stream, causing Rhabdomyolysis, leading to cardiac arrest.  

The sheer rareness of LPIN1 deficiency is what has made us feel that sharing Milly’s story is the right thing to do. The symptoms are very easily mistaken for common and treatable issues.  

The mortality rate for this condition is 1 in 3, and we hope that by sharing Milly’s story we can raise awareness, to those outside of the Inherited Metabolic community, of how although a condition is extremely rare, it doesn’t make it impossible and much more research in to spotting these conditions early and prevent more young people from losing their lives, is needed.