The annual Rare Disease UK meeting on 13 June was worth attending. This is a campaign led by Genetic Alliance UK, working with the rare disease community and UK’s government to ensure that UK’s Strategy for Rare Diseases gets implemented.

There were 2 things that really stood out to me: 1.  Project to understand the experiences of children and young people of what it’s like to live with a rare disease, and 2. Research into living with a rare condition and the effects on mental health. Both tackle key issues. 

There are over 6,000 known rare disease, of which 75% affect children.

Here, at the AAT we are passionate about making a real difference to every child, young person and their families affected by aplastic anaemia, an extremely rare condition, and are currently looking for funding for a key project, MarrowKidz. This will help us to ensure that excellent support and information is provided to every child, young person, sibling and carer affected by aplastic anaemia and allied rare bone marrow failures. We recognise that the needs of children, young people and their families across different age groups differ and that they need to be at the centre of high quality, co-ordinated care, treatment and support throughout their journey. 

Living with a rare disease has a profound impact on mental health

Mental ill-health will affect every 1 in 4 of us during our lives. It’s even tougher when you’re living with a rare condition. The experience is frequently isolating, physically, emotionally and mentally draining, with the availability of co-ordinated mental health support - piecemeal. The AAT welcomes commitment from Genetic Alliance UK to seek funding for a pilot programme of training and resources for rare disease patient support groups. 

Because of their rare disease, 95% of responders to the survey felt worried or anxious, 93% have felt stressed and 70% have felt at breaking point

Grazina Berry, CEO of the AAT