Ralph & Claire Casson met and had their beautiful daughter Phoebe later in life. Parenthood was a revelation to them and transformed their lives for the better. She was the absolute centre of their world and grew into a confident, always happy, always had a question or an answer, full of life little girl.

Sadly their happiness was broken by periods of time in hospital, the first when Phoebe was 17 months old. The doctors spent days throwing everything at her and trying to identify what was wrong and eventually discovered that her ck (creatine kinase) enzyme count was incredibly high at 250000 rather than the norm of around 100. Tests followed her discharge and months later they received a diagnosis, Phoebe had a genetic mutation called LPIN1.

LPIN1 is a very rare condition and relatively recently discovered (2008) so at that point they didn’t really understand the implications, these only became clearer with further episodes of what actually turned out to be Rhabdomyolysis, melting of the skeletal muscle. Phoebe’s genetic mutation meant she was more vulnerable to simple fevers or fasting. They took extra care but wanted her to have a full, normal life. However her 4th episode of Rhabdomyolysis took a swift and more horrific turn, her potassium levels began to rise uncontrollably and they tragically lost their shining star, their gorgeous girl late in the evening of 17th September 2016. Their world was shattered into 1000 pieces.

In the days that followed her death, Claire & Ralph’s minds turned to fundraising, bouquet after bouquet of flowers arrived and they thought there had to be a better and more permanent use of the money people were spending. In the first instance they raised money for a roundabout in Phoebe’s memory in her favourite park, which was in place for and opened on what would have been Phoebe’s 5th birthday on 17th December 2016. Phoebe loved this park, she constantly asked her mummy when would there be a new roundabout to replace the old wonky one which had been removed and to see her friends and the children of the local area now enjoying Phoebe’s roundabout but they would like to do more and are in the process of setting up” Phoebe’s Roundabout” as a registered charity.

A key objective of “Phoebe’s Roundabout” will be to support research into LPIN1 deficiency, the rare condition which took Phoebe’s life so suddenly aged just 4. There is a small team in Paris at the Institut Necker who are researching the condition and hopefully working towards drug trials in the near future but their team is small and stretched. In raising additional funds they could help them further their objectives as well explore other research opportunities and provide support for families of other sufferers in the UK and beyond.

Please help with helping Claire & Ralph with their efforts to first cover the legal fees they’ve incurred to manage their submission to the Charities Commission and then get “Phoebe’s Roundabout” off to a flying start. They want to be able to do everything they can to prevent any other family losing their precious child to LPIN1.