Dear Decision Maker,
Imagine having a condition no doctor or hospital can treat. Imagine being judged on your appearance and told you’re not sick when you are suffering.
At a time of exceptional innovation and groundbreaking research, the RCPCH Engagement Committee and RCPCH &Us want to see greater support to those living with rare diseases.
A disease is rare when it affects fewer than one in 2,000 people, with 70% of rare diseases starting in childhood. There are around 3.5 million children, young people and adults living with a rare disease in the UK. Think of a tube carriage or a class at school: statistically one in 17 of the population will be affected by a rare disease at some point in their lives.
We were really surprised to find out that, on average, it takes over four years to receive an accurate diagnosis of a rare disease. This means managing symptoms while you wait to find out and being powerless to stop it.
In 2021, RCPCH &Us and the British Paediatric Surveillance Unit (BPSU) asked children and young people with rare diseases and conditions about their pandemic experiences and what mattered to them. Eighty nine percent got most of their support during the pandemic from friends and family, and 51% said they wanted more public awareness on rare diseases and conditions for children and young people.
Providing information about rare conditions [is important as] most hospitals don't know how to treat my condition and as a result judge me on my appearance and think I am not sick when I am really suffering. This is something that really affects my health outcomes because if they acted sooner, I wouldn't develop other complications.
When asked ‘what do you think would make a difference to children and young people in the future?’, 29% indicated that thinking about the future is important, with good transition planning and help for younger people to know there are still options and that they can have aspirations about their life with a rare disease.
As a friend or family member, you can empower those with rare diseases.
As a healthcare professional, you can make a difference to how patients are heard and supported, particularly through collaborating with charities and other services while waiting for diagnosis.
As a decision maker, you have the power to bring in equity for those with rare diseases, to learn from others internationally and to support innovation in the UK, so that children and young people with rare diseases can thrive at school, in their aspirations and in their life.
We are looking forward to seeing what we can do together.
RCPCH Engagement Committee
Thank you to the 76 young people who took part in the RCPCH &Us/BPSU survey in 2021 and to the stats and facts from www.rarediseaseday.org that supported the RCPCH Engagement Committee with their letter. The RCPCH Engagement Committee includes young people, parents/carers and paediatricians and is chaired the RCPCH Assistant Registrar, Dr Omowunmi Akindolie.