Raising awareness of tuberous sclerosis complex (TSC) and the importance of implementing TSC international recommendations can help those affected.

Tuberous sclerosis complex (TSC) is a lifelong disease causing non-cancerous tumours to grow in organs including the brain, kidneys, heart, lungs and skin. There is no cure, but treatments exist. TSC Ireland supports patients and families and promotes the implementation of international TSC consensus recommendations and coordinated care.

Understanding the impact of TSC

Approximately 1 in 6,000 are born with TSC globally, and around 700 people in Ireland are affected. Laura Enright, TSC Ireland Committee Member whose five-year-old daughter has the condition, says: “Some people may be mildly impacted while the burden of disease for others can be significant.” Around 80% of people can have epilepsy and other neurological problems including behavioural issues, intellectual disability and ADHD while 50% may have autism. Lung and kidney disease is also frequently found.

Approximately 1 in 6,000 are born with TSC globally,
and around 700 people in Ireland are affected.

Community for people affected by TSC

TSC Ireland, founded by parents in 2015, raises awareness of TSC and provides support and information to those affected. It is a vibrant community with family days, conferences, webinars, websites and social media platforms where people offer each other constant support and share experiences.

International TSC consensus recommendations

“We want to inform people about the international TSC consensus recommendations and the importance of surveillance and monitoring,” adds Enright. These were compiled by global TSC experts to optimise care for TSC patients universally. Coordinated care in a centre of excellence is recommended, however, patients in The Republic of Ireland have no such centre. “We are collaborating with clinicians to achieve this goal,” says Enright.

“TSC is a very unpredictable disease. However, with information and support, people can lead the best life they could with TSC rather than focus on it being an overwhelming disease, over which they have no control.” Within TSC Ireland, you will find a passionate, committed community empowering its members to live their best lives.

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Leanne Lennon, Home Support Worker at Central Remedial Clinic (CRC), discusses how she finds fulfilment in a rewarding career that offers a healthier worldview and growth.

How long have you worked on the Network team?

I have worked as a Home Support Worker for the Children’s Disability Network Team for 18 months. As part of a team, I am connected and supported within my role. We take the rough with the smooth; and when the going gets tough, one of my colleagues is always there with an openness that they extend to every one of our young persons with a complex disability or rare illness.

What is your average day like?

Every day is different at Central Remedial Clinic and within my role in particular. I go from one family in the morning to another family in the afternoon. I support those from 0 to 18 years old, with any complex disability, from any background and for short measures of time (up to 6 months). I am given the respect and opportunities to develop my own workshops. I run an Independent Skills Workshop with the support of peers.

Understanding your boundaries and
defining your expectations is labour-
intensive and takes constant reflection.

What do you enjoy most about your role?

It is very gratifying and humbling when a child with a complex disability takes their first steps or learns to say my name when they have difficulty speaking. These moments are very comforting and rewarding and are perhaps my favourite aspect of the role.

What are the challenges of your role?

When the real things that matter become abundantly clear, it’s knowing where the giving ends and the taking begins that is the challenge for some people in my role. Understanding your boundaries and defining your expectations is labour-intensive and takes constant reflection.

What would you share with people seeking a similar role?

Working with the CRC, I have access to many benefits, from public sector pay, pension and terms and conditions to personal and professional development opportunities. I’m a goal-oriented person, so building that place of security is just the beginning. The aspiration can be small, but the progress is everything to a parent and young person. Reaching that aspiration is the best part of the job.

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Join us on Rare Disease Day, February 29, the rarest date, to shine a light on the challenges faced by the rare disease community, and to look at solutions to address the health inequalities they experience.

Rare diseases affect up to 400 million people across the world,¹ and approximately 300,000 in Ireland.² These diseases are often devastating, progressive, life-limiting and incurable. The journey to diagnosis can be long and convoluted and even once diagnosed, there is a lack of scientific understanding about many conditions and no meaningful treatment options for 90% of the estimated 10,000 rare diseases.³

Innovation will accelerate progress

Advances in science have enabled new life-changing and potentially curative treatments for rare and ultra-rare diseases. Developing a deep understanding of rare diseases is essential to drive innovation forward. Around 80% of rare diseases are believed to have a genetic origin,⁴ and cell and gene therapies are emerging as a new route for delivering the future medicines that patients need.

However, bringing new medicines to patients can only be realised and accessed if we apply sustainable practices — paired with the right healthcare infrastructure — and enabling processes. The landmark National Strategy for Accelerating Genetic and Genomic Medicine sets out a clear roadmap for harnessing the power of genomics to offer predictive, preventive and personalised care for Irish patients. In rare diseases, this has the potential to mean a faster and more accurate diagnosis that can then inform decisions about treatment, care and support.

Around 80% of rare diseases are
believed to have a genetic origin.

Patients’ voices matter

In recognition of the complex challenges faced by people affected by rare conditions, the Irish Government is supporting the creation of a new Rare Disease Plan for Ireland in 2024. It is encouraging to see the strong commitment to getting input from patients and carers to the Plan through a dedicated Patient Forum and ensuring their views and experiences help to inform the content.⁵

This collaborative approach will need to extend from the development phase through to implementation. Patient input and engagement in all stages of the process will be critical if we are to achieve the step-change needed for the rare disease community.

[1] Nguengang Wakap S et al. Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database. Eur J Hum Genet. 2020;28:165–173.
[2] HSE.ie. NRDO Patients and families. What is a rare disease? Available at: https://www.hse.ie/eng/services/list/5/rarediseases/patientsfamilies.html#:~:text=There%20are%20more%20than%206000,disease%20can%20have%20many%20questions.
[3] Rare-X. (2022). The Power of Being Counted Report. Available at: https://rare-x.org/wp-content/uploads/2022/05/be-counted-052722-WEB.pdf
[4] Global Genes. Rare Disease Facts. Available at: https://globalgenes.org/rare-disease-facts/
[5] Gov.ie (2023). Minister for Health announces the establishment of the National Rare Disease Steering Group. Available at: https://www.gov.ie/en/press-release/eb30f-minister-for-health-announces-the-establishment-of-the-national-rare-disease-steering-group/#:~:text=The%20new%20Plan%20will%20seek,into%20the%20national%20health%20service

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A Cork-based research team is developing groundbreaking gene editing strategies that target multiple variants to tackle rare diseases.

At the genetic level, we each have many, small variants in our DNA that make each of us unique. Occasionally, one of these variants disrupts the instructions for making an essential protein in our body. This is the cause of many rare diseases such as cystic fibrosis (CF), which affects about 2,000 people in Ireland. So, if some of these variants cause a disease, can you target them directly to develop new treatments?

Gene editing for CF

In 2012, a technique known as gene editing was successfully used for the first time to target the most common DNA variant that causes CF. “By editing the DNA sequence of a disease-causing variant, you can restore the instructions to make a functional protein,” notes Patrick Harrison, Professor of Molecular Physiology at University College Cork, who led this breakthrough study.

However, as CF can be caused by any 1 of over 500 variants, the use of gene editing strategies that only target one variant at a time would mean developing potentially hundreds of approaches just for one disease.

By editing the DNA sequence of a disease-causing
variant, you can restore the instructions
to make a functional protein.

Gene editing for multiple variants

“The question is whether we can find strategies where you can edit small clusters of variants in the same region of DNA,” says Harrison. “We are developing techniques that could do this for three or four such clusters. If we could then translate this to the clinic, it could restore production of a functional protein for most people with CF.”

Harrison adds: “This is important, as many of the variants we are targeting do not respond to the recently approved CF ‘modulator’ drugs. In Ireland, that’s about 20% of people with CF; potentially 50% of people with CF globally.”

Expanding gene editing applications

CF advances may translate to other lung disorders or rare diseases affecting different organs. Harrison elaborates that the field is progressing swiftly. Merely three months ago, the first gene editing medicine gained approval for sickle cell disease, marking a remarkable breakthrough. However, further research is imperative to extend this technology’s reach to numerous other diseases — and enhancing accessibility must be prioritised.

Research in the Harrison Lab is supported by Science Foundation Ireland, CF Trust (UK) and CF Foundation (USA).

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hATTR amyloidosis is a rare, hereditary condition caused by amyloid deposits from abnormal versions of a blood protein called transthyretin (TTR).

Imagine a rare disease affecting approximately 50,000 people globally, with at least 130 mutations involving different presentations and prognoses, the third most common of which is linked to a 15-mile Irish coastline in northwest Donegal. No need to imagine — it’s real!

From that remote part of County Donegal, one mutation, T80A, has spread across the world — from Australia to the USA. What a unique connection Ireland has to this rare disease.

Benefits of early hATTR amyloidosis diagnosis 

In recent years, a number of therapeutic options have been developed for hATTR amyloidosis management and treatment. 

Early diagnosis has a significant effect on prognosis. Available treatments have been shown to slow down and, in some cases, halt disease progression. Recognising the ‘red flags’ for the disease in its early stage can play a major role in improving patient outcomes. 

Research into this rare
disease is ongoing.

How to encourage early diagnosis 

We must encourage those known to be carrying the mutation — or those with confirmed diagnosis — to be open with family members, share awareness of signs and symptoms and encourage them to seek medical advice at the first sign of any symptom. 

Family cascade screening widens the testing pool for T80A, facilitating earlier diagnosis of this potentially devastating disease. The availability of — and access to — genetic testing will help healthcare professionals diagnose the condition earlier. 

Genetic testing for hereditary ATTR amyloidosis can now be accessed through GP surgeries across Ireland. Irish specialists treating this disease have stipulated that the minimum age for testing of T80A is 45 years — or 10 years back from the age a relative with the disease was first diagnosed. 

Expanding treatment for hATTR amyloidosis 

Recent years have seen a significant improvement for patients. What was once a rapidly progressive, debilitating and life-threatening disease now has treatment options, which may slow down progression and improve the quality of life of those affected by hATTR. 

Research into this rare disease is ongoing. Ireland has a unique connection to hATTR amyloidosis. This highlights the importance of prioritising such diseases and, on Rare Disease Day 2024, we ask that Irish healthcare professionals remember to think rare and think genetic, as we strive to empower the public to recognise symptoms of this rare disease, particularly in counties with endemic populations. 

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About 300,000 people living with rare diseases in Ireland continue to have a high level of unmet needs and demand equity of access.

Today, the 29th of February and the last day of February, is Rare Disease Day — the international day that celebrates and raises awareness of the millions of people living with rare diseases around the world.

Rare disease challenges to address

It is estimated that 300,000 people are living with a rare disease in Ireland. That is 1 in 17 of the population — individually rare, collectively common.
The only National Rare Disease Plan for Ireland was published in 2014 — 10 years ago. While not perfect, this plan brought about changes within the health service, but much more needs to be done. More than anything, the 300,000 people living with rare diseases in Ireland continue to have a high level of unmet needs and demand equity of access to services.

For many, living with a rare disease is a lonely and isolating journey. Diagnosis takes years and, sometimes, even decades. Information and expertise are scarce. Care is disjointed. Treatments target only symptoms. Therapies to treat the underlying condition don’t exist. There is no one on the same journey who can relate to your experiences and guide you on what the future might hold.

For many, living with a rare disease is a
lonely and isolating journey. Diagnosis
takes years and, sometimes, even decades.

Rare disease strategy key objectives

The past year highlighted rare diseases as a key public health priority. Efforts are ongoing to create and execute a national strategy for rare diseases, centred around the voices and lived experiences of those affected as well as their caregivers, aiming for tangible impact.

This strategy will:

• Provide a comprehensive and cohesive plan to ensure integration and coordination of care across the healthcare system regionally, nationally and internationally.
• Create the systems required to address the unmet needs of people living with rare diseases in Ireland and eliminate persistent inequalities along the patient journey in accessing a diagnosis, treatment and care.
• Build the foundations of a health system that is future-proofed and will allow us to keep pace with new technologies and practices in the decades ahead.
• Tackle barriers that prevent people living with rare diseases from integrating into society and living their best lives.

Empowering the rare community

The rare community is a vulnerable population persistently challenged by high levels of morbidity and premature death, significant inequalities in health and wellbeing and a lack of integration into society. This new national rare disease strategy will be a crucial step in addressing these challenges.

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Elevate awareness of rare diseases in Ireland and across the globe. Learn how early diagnosis and lived experiences can make a difference, and join the movement.

Approximately 1 in 17 people are living with a rare disease in Ireland. Increasing awareness of rare diseases is necessary to reduce stigma and isolation, increase understanding and create a more inclusive community.

Why is rare disease awareness important?

There are up to 8,000 known rare diseases, affecting around 300,000 people in Ireland. These diseases are very often hidden disabilities, unknown to the general public. They affect our children’s teachers and classmates, our doctors and work colleagues. Rare diseases are all around us, but awareness is not.

Early diagnosis of rare diseases

Awareness of rare diseases is vital for a timely diagnosis. Better outcomes, in terms of improved care pathways, are more likely when patients receive an early diagnosis. These care pathways help those living with rare diseases reach their potential.

There are up to 8,000 known rare diseases,
affecting around 300,000 people in Ireland.

Lived experience informing care

Those who live with rare diseases often have the opportunity to link in with academics, medical professionals, industry and charitable organisations to create awareness based on personal experience. Shedding a light on rare diseases among medical professionals increases their awareness, allowing for more timely diagnosis and improved care.

How we raise awareness

As a rare disease charity, we are passionate about raising awareness. We advocate and incorporate rare voices in various projects we are involved in. Rare Ireland recently partnered with Rare Diseases Ireland in a public awareness campaign initiated and funded by Takeda.

The campaign is called ‘I Am Number 17’ and reflects the fact that 1 in 17 people in Ireland will, at some stage, be affected by a rare disease. The campaign, which launched on the 7th of February, features 17 changemakers, all living with rare diseases. Each changemaker has shared their story, putting recognisable and relatable faces to the statistic and putting the person in the spotlight, rather than their rare disease.

Rare is everywhere but, due to the lack of awareness and understanding, these conditions remain unknown to the general public. As a community, we advocate together, shedding light on the need for better awareness and understanding of rare diseases.

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Meeting rare disease challenges needs an EU-wide, collaborative healthcare approach, uniting expertise and resources for comprehensive patient care.

Healthcare services for the rare disease patient population require a level of specialisation and expertise that is often unavailable at a local level, demanding collective EU action and integrated approaches across national borders.

Connecting rare disease experts across Europe

The establishment of European Reference Networks (ERNs) was a significant step forward, connecting clinical specialists across borders and harnessing Europe’s collective expertise to diagnose and treat rare diseases. Although ERNs are clinical knowledge networks providing access to evidence-based information and professional education, they are not direct healthcare delivery networks. Thus, rare disease patients frequently need to cross borders for care.

A key concern is whether European health systems can sufficiently serve individuals with extremely rare diseases or requiring complex surgeries, with fewer than 500 cases annually across the EU or limited treatment centres. This prompts questions about enhancing EU efforts for equitable access to care and planning specialised healthcare services based on optimal population size.

Rare disease patients frequently
need to cross borders for care.

Access challenges addressed

A potential solution is EU cooperation to commission highly specialised services from ‘European Lighthouses’ — recognised Expert Centres connected to European, national and international networks. This would involve an EU healthcare benefit basket for a defined patient population. The success of this model requires EU countries to strengthen cooperation and manage specialised services more effectively, moving beyond bilateral agreements towards a structured approach.

Additionally, defining and standardising access pathways for each service, incorporating the role of ERNs, integrating workforce planning and ensuring training and shared agreements with local and national centres for efficient follow-up is crucial. This requires not only policy changes but also a cultural shift towards viewing the commissioning of certain highly specialised services as a collective responsibility.

The need for ambition

Our proposal is politically audacious. It poses challenging questions on funding, the centralisation of certain services at the EU level or adopting new referral mechanisms to speed up access to cross-border healthcare. Our proposed Lighthouses model for specialised services could spark debate on expanding the European Health Union beyond crisis preparedness to address other initiatives more efficiently through enhanced cooperation, less constrained by national health system limitations.

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Alexandra Heumber Perry

Chief Executive Officer, Rare Diseases International

Explore the global impact of rare diseases in an interactive initiative showcasing achievements and advocating for 300 million people with a rare disease.

Rare diseases, once seen as isolated conditions, now reflect common and complex challenges. Mobilisation of civil society has prompted scientific advancements and improved healthcare emerging policies across countries.

While promising for the 300 million Persons Living with a Rare Disease (PLWRD) worldwide, they still encounter persistent challenges globally, including diagnosis delays, treatment access issues, social stigma and financial burdens.

Rare disease awareness initiative

For Rare Disease Day 2024, Rare Diseases International (RDI), the global alliance for rare diseases, is seeking to bring awareness to the challenges faced by people with rare diseases and highlight the many achievements of its community members.

The alliance is launching ‘Mapping Rare’, an interactive map highlighting key accomplishments and initiatives created by and for the rare disease community. While the project will eventually document achievements across the world, the initial launch will focus on 12 countries.

Examples include the creation of a national rare disease network in Canada, a successful campaign to replace offensive technology used in the full name of Fragile X Syndrome, and a policy change to allow Tanzanian children with rare diseases to access suitable education options.

By actively advocating for the
rights of PLWRD, the rare disease
community can ensure that PLWRD are seen.

Advocating for rare disease rights

Mapping Rare aims to send the message that, by actively advocating for the rights of PLWRD, the rare disease community can ensure that PLWRD are seen, recognised and accounted for by policymakers and healthcare systems.

The project draws on years of advocacy by RDI and its members at the international and national levels and seeks to build on the political momentum that has been growing since the first-ever United Nations resolution on rare diseases in 2021. This recognition and the introduction of rare diseases in the scope of Universal Health Coverage provide a pivotal opportunity to address the challenges of PLWRD and their families.

Global action plan for rare disease

RDI is now calling on the World Health Assembly to adopt a Global Action Plan on rare diseases as the most effective way to ensure that PLWRD in all countries have access to the care and services they need.

As one of the building blocks of this project, Mapping Rare will serve as a tool that raises awareness, showcases achievements and demonstrates the strength of the rare disease community.

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