24th February 2025
To mark Rare Disease Day 2025 on 28 February, we are pleased to share this iHV Voices blog by Philippa Bishop – iHV Director of Learning & Development.
Philippa Bishop – iHV Director of Learning & Development
The year is now peppered with ‘Awareness Days’ all designed to generate interest and highlight fantastic causes. Rare Disease Day on 28 February is one I had not previously encountered. Promoted by an international movement (with Genetic Alliance UK spearheading the UK third sector contribution, supported by Genomics England), the global network hopes to improve awareness to reduce inequalities faced by people living with rare diseases, including barriers to healthcare and issues with access to diagnosis, therapies and outcomes.
A rare disease is one that affects fewer than 1 in 2,000 people. Almost 300 million people globally are living with one of a broad range of such conditions, including 1.3 million people in the UK. A lack of scientific knowledge and research relating to rare diseases is often cited as resulting in a delay in diagnosis, and the impact of this can be significant for patients and families. Up to 80% of rare conditions are thought to have a genetic origin. The NHS is a world leader in genomic medicine research and healthcare, and advances in genomics offer the potential for quicker diagnosis for people with a rare disease and, subsequently, the possibility of early intervention. Genomics is no longer part of “tomorrow’s world” and is fast becoming part of mainstream healthcare in the UK.
What is the significance for health visitors?
- The majority (70%) of rare diseases are thought to start in childhood – identifying a key role for health visitors remaining alert to not only the emergence of symptoms but also supporting babies, children and their families on any diagnosis odyssey, and providing ongoing support following any diagnosis.
- The risk of inequalities faced by people living with rare conditions is something which health visitors can be vigilant in recognising and addressing in their assessments.
- Health visitors will encounter families taking part in the NHS Generation Study which is currently underway in key sites across England – aiming to sequence the genome of 100,000 newborn babies to better understand the ability to diagnose and treat genetic conditions.
- The Nursing and Midwifery Council (NMC) has set out expectations for Specialist Community Public Health Nurses (SCPHNs) to apply knowledge and understanding of genomics in the 2022 SCPHN Standards of Proficiency.
How is iHV supporting Rare Disease Day?
We are delighted to be supported by NHS England Genomics Education Programme funding to grow health visiting knowledge of genomics through the roll out of our iHV Genomics Ambassador training programme, with the aim of improving support available to families. Our next training event on 27 February 2025 – for the Central & South Genomic Medicine Service Alliance (GMSA) region – is the day before this year’s Rare Disease Day. We are looking forward to being joined by health visitors from many services in the Midlands and South of England.
Joining a Rare Disease Day learning event:
We are pleased to share that our colleagues from the Central & South GMSA are hosting a free webinar – More Than You Can Imagine – Genomics & Rare Disease – 28 February 2025, 12:00-14:30 via MS Teams. For more information and to request a place go to: https://www.tickettailor.com/events/nhscentralandsouthgenomics/1582521
For further information:
- Organisations supporting families:
- Genetic Alliance – https://geneticalliance.org.uk/
- SWAN-UK – Syndromes Without A Name: https://geneticalliance.org.uk/support-and-information/swan-uk-syndromes-without-a-name/
- Unique – Understanding Unique & Rare Chromosome Disorders: https://rarechromo.org/
- iHV Genomics Ambassador Programme
- NMC Standards of Proficiency for SCPHNs
