There are over 7,000 identified rare diseases, some so rare they only affect a small number of people in the world. But collectively, they are common, affecting 3.5 million people in the UK at some point in their lives — 1 in 17 people. 

But beyond these statistics are real lives; the people living with these rare diseases daily – and the families and carers who support them.

To shine a light on the people living with their rare conditions, ITN Business will be launching a news-style programme for Rare Disease Day on the 28th February, 2024, titled ‘Rare Conditions: The Stories Behind the Stats’, and anchored by award-winning journalist Warren Nettleford.  

In the lead-up, we’ll be raising awareness of different rare diseases and the realities for those families affected by them.

Rare Disease Spotlight: Spinal Muscular Atrophy 

Spinal Muscular Atrophy (SMA) is one of the lesser-known rare genetic disorders, affecting roughly 1 in 10,000 newborns.  This degenerative disease — which affects motor neurons in the spinal cord — leads to progressive muscle weakness and atrophy, and has a profound impact on the lives of those diagnosed.  

Five-year-old Ezra has Type 1 Spinal Muscular Atrophy — the severest form — which makes general movement, and normal functions like breathing and swallowing, a daily challenge. Machines have become a vital part of his support. 

Ezra’s mother Portia shared their moving story as part of an award-winning, news-style programme from ITN Business and Genetic Alliance UK, titled ‘Shining a Light on Rare Diseases’, anchored by presenter Sangeeta Kandola and launched in 2022

 

Approved by Genetic Alliance UK

Ezra’s story is unique, as he’s one of the first children diagnosed with SMA to survive infancy, having got access to a new medication from the US early in his diagnosis.   

For most babies born with Type 1 SMA, life is short; usually these infants will die before their second birthday. 

But the heartbreak for parents of SMA children, and the impacted quality of life for those affected by it, could be prevented with a newborn screening test not currently carried out in the UK. 

The simple heel-prick test identifies the genetic disorder within the first few days of life, allowing newborns to receive vital medication before motor neurons develop. 

Many countries in Europe have adopted a national screening programme, including Austria, Sweden, and Italy — but the UK has yet to join the list.

Why hasn’t the UK Adopted Newborn Screening? 

The reasons are varied but linked to insufficient evidence on the screening’s effectiveness. This ultimately led to the NHS rejecting the screening in 2018. 

Patient groups and organisations like the Spinal Muscular Atrophy UK continue to campaign for its implementation. It’s a test that could transform the lives of children and their families — and would have led to a very different outcome for Ezra.

About the Genetic Alliance UK

The Genetic Alliance is a national charity working to improve the lives of patients and families affected by genetic, rare and undiagnosed conditions. With more than 200 members, it’s the largest alliance of organisations supporting families and advocating for fast and accurate diagnosis, quality care and access to the best treatments.

About SWAN

SWAN stands for A Syndrome Without Name. Learn more about Periventricular Leukomalacia (PVL) and SWAN UK, set up by Genetic Alliance to represent the 6,000 children in the UK born with a genetic condition that hasn’t been diagnosed.    

What are some other rare diseases in the UK?  

  • Ehlers-Danlos Syndrome
    A group of connective tissue disorders that can lead to joint hypermobility, skin fragility, and other symptoms
  • Niemann-Pick Disease
    This is a rare metabolic disorder that can lead to problems with the body’s ability to break down fats within cells.
  • Alkaptonuria
    Alkaptonuria is a rare genetic disorder that affects the metabolism of a specific amino acid, leading to the accumulation of a substance called homogentisic acid in the body.
  • Mucopolysaccharidoses
    A group of rare genetic disorders that affect the body’s ability to break down certain complex carbohydrates. 
  • Phenylketonuria (PKU)
    PKU is a rare inherited disorder that affects the body’s ability to process an amino acid called phenylalanine. It can lead to intellectual disabilities if not managed through diet restrictions.     

Learn more about our upcoming programme, ‘Rare Conditions: The Stories Behind the Stats’, anchored by award-winning journalist Warren Nettleford.