Rare Disease Day 2022: advice for families as England launches first action plan

2 mins read

Monday 28 February 2022

Tags: rare conditon

Today is Rare Disease Day 2022 – an opportunity to raise awareness and generate change for the 300 million people living with a rare condition worldwide.

To mark the occasion, today also sees the publication of England’s first Rare Diseases Action Plan setting out specific and measurable targets for the coming year based on the national priorities identified in 2021’s UK Rare Diseases Framework. 

The strategy, which was developed by NHS delivery partners in consultation with the rare conditions community, promises faster diagnosis and new treatments as part of 16 commitments to improve care for the 3.5 million people living with a rare condition in England.

For families, for example, the Department of Health and Social Care has pledged improvements to newborn screening so that diagnoses can be made earlier. This includes a new research pilot using whole genome sequencing to screen for rare genetic conditions in healthy babies.

You can read the Rare Diseases Action Plan in full here. Wales, Scotland and Northern Ireland will publish their own action plans by the end of the year.

How Contact helps families of children with rare conditions

It can sometimes be harder to get the information you need if your child has a rare condition. That’s where Contact comes in.

You will find plenty of information by exploring our A-Z directory of medical conditions, reading our free online parent guide on the support available for families living with a rare condition, speaking to other parent carers in our Facebook community, and following our advice on how to find trustworthy medical information online.

You can also learn more about rare conditions on our website.

Still trying to get a diagnosis for your child?

Visit our webpages all about diagnosis to find out about the process of getting a diagnosis and how to get support if your child doesn’t have a diagnosis.

You can also download our free parent guides about living without a diagnosis and about developmental delay.