We are abseiling down St Thomas hospital in London on 11th September 2021 to raise money for the Evelina hospital who care for our son Leo. Please see his story below

During the first lockdown Leo became ill being lethargic and sick on and off for 3 months. During this time we spoke to many doctors at our local practice who originally believed he had reflux. After trying different medication and spending lots of time convincing them that we felt something wasn’t right they sent Leo to our local hospital for blood tests. After a scary phone call at 1am in July 2020 we were told to get him to A&E immediately as his liver levels were extremely high. At that point he was retested and as they had decreased slightly we were told it was probably an infection and he would be fine. With some vitamin k the levels returned to normal after 2 weeks.

Leo was fine until November when we noticed some of the same signs (lack of energy, irritability, tummy pain, unable to settle) we phoned 111 and were told to take him to A&E for blood tests. After arriving Leo had found his energy again and the doctors thought he was fine. They said it was unfair on him to do blood tests. We tried everything to convince them but was unable to. Within a few days he was really ill again and being constantly sick. We spoke to our gp who sent him straight to hospital with a letter demanding they do blood tests. The next day Leo was admitted with raised liver levels once more. They continued to rise so he was transferred to Kings in London that evening. They were great and told us he wouldn’t be going home without proper answers. He spent the week there having countless blood test and fluid drips. They informed us they were communicating with the Evelina children’s hospital incase it was a metabolic condition. At the end of the week he was transfer to the Evelina where they explained they thought he had OTC deficiency. From the moment we met the team there we knew we were in good hands. It was the scariest time, especially with covid restrictions meaning we couldn’t all be together. They were patient and explained everything every step of the way. Even taking the time to explain things over the phone so we both were included and informed together. We can’t thank the team enough. We now feel more in control of keeping Leo well and know that we have their support when we need help or advice. 

Leo has now had genetic tests which have confirmed he has OTC deficiency. This is a rare genetic disorder where his body lacks an enzyme that breaks down and removes nitrogen from the body which comes from proteins. He is on medication and a strict low protein diet. It has been a lot to take in and changed our lives for a while but the changes are becoming a normal part of everyday life. 

We want to raise as much money for the Evelina children’s hospital as we can to thank them for their ongoing support and care. We would also like to raise awareness of Leos condition as even lots of medical professional we have spoken to have not heard of it. If left untreated there can be serious complications

OTC is estimated to affect 1 in 50,000-80,000 people but some go undiagnosed. To read more about the condition see

https://rarediseases.org/rare-diseases/ornithine-transcarbamylase-deficiency/

Thank you for reading :) 

Gemma and Ben 

At Evelina London we help children and young people live their best lives today and tomorrow. Every pound you raise goes towards taking our care for sick children to the next level. We are part of the Guy’s and St Thomas’ NHS foundation trust.

Money to be donated to 'The Children's Metabolic Fund' (SPF 115)