GOSH patients Lottie 14, and her younger brother Ashley aged 12 who have a rare form of rickets called X-linked hypophosphatemia (XLH). They feature in one of the films in the Future of Children’s Research series.
Lottie and Ashley started coming to GOSH in 2014 to see Dr William Van’t Hoff and were keen to hear about a new clinical trial for children with XLH. XLH is a genetic condition in which the kidneys lose to much phosphate, which would otherwise help to strengthen bones. Children suffer bone pain, weakness and bending of the legs (rickets) and have poor growth.
Here Lottie, Ashley and their mum Gemma tell us about taking part in the clinical trial.
Starting the trial
Gemma says: “We found out Lottie and Ashley had the condition when they were 6 months old. I knew about the condition because my grandmother, mother, brother and I have it too”.
Lottie and Ashley are the first ones in the family enter a clinical trial and everyone was excited about it, particularly my grandmother. As soon as they heard about the opportunity, they said go for it and offered lots of support. There’s a lot of interest and our family are always asking about how the trial is going”
Coming to GOSH
While they were on the trial Lottie and Ashley came to the NIHR GOSH Clinical Research Facility (CRF) . They are looked after by research nurses Terri, Tendai and Corinne who give them an injection of the new drug which aims to maintain the levels of phosphate in their blood and improve their rickets.
“To start with the injections were quite hard - but eventually I got used to them and then it was fine.” said Ashley.
Every few months Lottie and Ashley also had assessments with physiotherapist Maria as part of the trial. “We had to have lots of measurements like height and leg length and then do a walking test to see how far we could walk around the track in six minutes’.
Lottie says "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 and they are all kind!
Gemma explains, “Ashley is very energetic and Lottie can walk further since being on the trial so we have definitely seen a difference. Ashley adds “It’s much better really. I don’t get aches and pains anymore.”
Advice for others
Both Lottie and Ashley are keen to help others with their condition,
Lottie says, “I joined the trial to help me and my family with my genetic condition.”
Ashley says “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 adds, “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 here and go home and tell their friends about it.”