Here Lottie, Ashley and their mum Gemma tell their story of coming to GOSH and taking part in a clinical trial.
Starting the trial
“I found out Lottie and Ashley had the condition when they were six months old", Gemma says. "I knew about the condition because my grandmother, mother, brother and I have it, so it’s quite dominant in our family. It meant I knew who to get in touch with to help.
"Lottie and Ashley are the first ones in the family enter a clinical trial and everyone is excited about it, particularly my grandmother who is 81. As soon as they heard about the opportunity, they said 'go for it' and offered lots of support, such as helping out at home and with my other son, who does not have the condition. There’s a lot of interest and our family are always asking about how the trial is going”
Lottie and Ashley come to the Somers Clinical Research Facility (CRF) and are looked after by Terri and Tendai, Research Nurses on the CRF. Terri and Tendai give them an injection every two weeks which aims to maintain the levels of phosphate in their blood, thereby improving their rickets.
Lottie describes coming to the CRF: "I didn't expect the nurses and doctors to be so nice. I thought they would just do the medicines and go. They all spend lots of time with my brother and I – chatting, playing and giving me fun things to play with. They are all kind! I joined the trial to help me and my family with my genetic condition. Being in the trial is fun, the injection and blood tests only take a few minutes and then the rest of the time you get to do fun things."
Lottie and Ashley's visits to the CRF are now every four weeks. A home care package has been set up as part of the trial so a research nurse visits the family at home. Lottie and Ashley can receive the drug and have any tests carried out there, even on a weekend. Their home care is co-ordinated by the research nursing team at GOSH, reducing the need to travel to GOSH and miss any school.
The trial is planned to run for more than a year and, every few months, Lottie and Ashley have physiotherapy assessments as part of it. Gemma explains: “Ashley is very energetic and Lottie can walk further since being on the trial so we have definitely seen a difference. They both used to complain of leg ache a lot and, like me, they both used to stop frequently and take time to get going.” “Mummy would like to have the medicine!” Lottie adds.
Gemma continues: “I don’t know if the children can definitely continue the treatment after the trial has finished but I really hope it gets licensed and they can.”
Advice for others
Both Lottie and Ashley are keen to help others with their condition. Ashley says: “I joined the trial because my parents told me it could help other people with our condition and it would help my family too – lots of us have XLH.”
Gemma says: “I would say if you are offered to the opportunity to take part in research and your child wants to then encourage it. Everyone here is really friendly and it’s not like going to hospital normally. The children love it and go home and tell their friends about it.”