Monthly roundup: June edition!

by | Jul 1, 2022

Join us at the end of each month as we look back on major developments that have occurred within the rare disease space.

June didn’t disappoint, so read all the news that’s fit to print!

Carers Week 2022

This Carers Week the We Care Campaign shared a very moving short film, which revealed the daily reality of unpaid carers.

Watch their film #TheOnesWhoCare now.

Justin Bieber diagnosed with rare disease

We were thinking of Justin Bieber this month after he was diagnosed with the rare condition, Ramsay Hunt Syndrome.

Justin took to Instagram to raise awareness of this disease and shone a light on what it’s like to live with a rare condition.

If you’ve been diagnosed with Ramsay Hunt Syndrome, visit Facial Palsy UK for support.

Video credit – Justin Bieber’s Instagram:

Wales publishes Rare Disease Action Plan

The Wales Rare Diseases Action Plan is OUT NOW!

The plan aims to help patients get a final diagnosis faster and increase awareness of rare diseases among healthcare professionals to promote better care coordination and access to specialist care. Read now!

FOP Friends trustee receives a British Empire Medal in Queen’s Jubilee Honours List

FOP Friends trustee, Helen Bedford-Gay, was named to the Queen’s Jubilee Honours List!

Helen was one of 304 recipients of a British Empire Medal (BEM)

Learn more!

Photograph credit: FOP Friends trustee, Helen Bedford-Gay

Canada, New Zealand and Maryland take huge strides!

The Health Ministry announced its new rare diseases policy, which aims to expand diagnostic services and treatments across the province, especially in remote areas in Quebec, Canada! An action plan will be developed over the coming months. Learn more.

Rare Disorders NZ shared the wonderful news that the Government accepted the recommendation to develop a strategy for rare disorders in New Zealand! This was a huge moment for rare community in NZ.

Governor Larry Hogan of Maryland, USA signed a proclamation that officially recognises June 11, 2022 as KBG Syndrome Awareness Day! Learn more.


Developing a positive working culture: NICE guide

NICE has published a quick guide for social workers and social care practitioners!

Social care, education and health practitioners must work together to put the views, life goals, ambitions and preferences of disabled children and young people with severe, complex needs at the centre of planning and decision-making. Read the guide now.

Graphic credit: NICE

Join the European Patient Advocacy Groups (ePAGs)

Want to designate a patient rep to get involved in the European Reference Networks (ERNs) as an ePAG advocate?

Apply now to ensure that the patient voice is heard throughout the ERN development process!

Deadline = 31st July 2022

Learn more!

Healx Wikipedia rare disease editathon

Healx hosted the first-ever Wikipedia rare disease editathon!

Rare disease leaders gathered to add missing citations and create new articles to help the rare community access scientific research.

Thank you to all those involved!

Photograph credit: Dr Elizabeth Coker, Healx

New medical student rare disease society

After Zainab won The 2021 Student Voice Prize, she and fellow medical students at the University of Glasgow set up the new rare disease society, RAREAwareGlasgow!

The society will help to implement Priority 2 of the UK Rare Diseases Framework, and just had its first AGM with 2022/23 committee members. Learn more!

New patient registry for Timothy Syndrome

Timothy Syndrome Alliance and Pulse Infoframe are pleased to announce that the CACNA1C Community Registry is open for worldwide recruitment!

The registry will aid in research for Timothy Syndrome, non-syndromic Long QT Syndrome 8, and other CACNA1C-related disorders.

Learn more!

‘I am Number 15’ campaign

Takeda has partnered with Rare Diseases South Africa (RDSA) for the launch of the unique ‘I am Number 15’ campaign!

The campaign is aimed at driving and improving outcomes for patients specifically battling Hereditary Angioedema (HAE), Gaucher Disease, Fabry Disease and Primary Immunodeficiency (PID).

1 in 15 South Africans live with a rare disease, which is why the campaign will highlight 15 ‘Rare Disease Warriors’ who’ll have their portraits painted by an artist.

Learn more!

Global Genes Rare Champions of Hope Nominees

Global Genes received 190 exceptional nominees in 7 categories

View the list of nominees now and get ready to learn the winners in September!

Rare Revolution Magazine is nominated for the Founders Award!

Diagnosing Rare Diseases: from the Clinic to Research online course

Diagnosing Rare Diseases: from the Clinic to Research and back is now continuously open for enrollment!

Over 4,000 people have enrolled to date, so claim your FREE spot to learn the role research, clinical investigation and data sharing play in diagnosing rare conditions. Enroll now.

Saul and George’s rare disease story

Meet 12 year-old Saul and George from Northern Ireland! Saul lives with SED, a rare form of dwarfism, and George’s mum lives with multiple rare conditions.

Saul and George both filmed their personal lockdown experience of shielding to partake in Headliners UK’s project and had their short film funded by The National Lottery Community Fund.

Best part? They are now going to school together! Watch now.

Photograph and video credit: BBC News

“Cost of Living” is headed to Broadway

The Pulitzer Prize winning play, “Cost of Living,” is headed to Broadway this Autumn!

‘Cost of Living’ focuses on a graduate student with Cerebral Palsy and his paid caregiver, as well as a woman who is paralyzed and her estranged husband.

Learn more!

Photograph credit: Daniel Rader,