Government and industry partnership is essential to deliver quicker diagnoses for rare disease patients and better access to innovative treatments.

Rare diseases collectively affect around 280,000 people in Ireland but the impact they have on patients, families and society is profound. Of the nearly 7,000 rare diseases, many are severe, chronic and progressive, with only 5% having an available treatment.

New national rare disease plan

Much has been achieved since Ireland’s ‘National Plan for Rare Diseases’ was published in 2014. The four-year government plan contained 44 recommendations focused on improving the diagnostic odyssey, identifying centres of excellence and establishing dedicated rare disease pathways.

Alexion, AstraZeneca Rare Disease recognises the progress made in establishing the National Office for Rare Diseases, publication of a Model of Care for Rare Diseases and several Irish hospitals joining the European Reference Network. Despite this, an enormous amount of work remains. Along with the wider Irish rare disease community, Alexion is calling for the publication of a new national rare disease plan to support quicker diagnoses and better access to the most innovative treatments available.

It is hard to imagine waiting years to be diagnosed, only to be told your condition has no treatment option or it is unavailable where you live. 

Receiving an accurate diagnosis

One of the most significant challenges facing the rare disease community in Ireland is the length of time it can take to receive an accurate diagnosis. A recent survey from Rare Diseases Ireland reported that 37% of people living with a rare condition are waiting over five years for a diagnosis, representing a lost opportunity to manage a disease as early as possible and achieve the best outcome for patients.¹ 

It is hard to imagine waiting years to be diagnosed, only to be told your condition has no treatment option or it is unavailable where you live.

Ireland’s growing footprint

For more than 30 years, patients and families affected by rare disease have inspired us to find answers to the most complex scientific challenges by pushing the boundaries of medicine.

Ireland is a country of growing significance for Alexion. In 2022, we announced further investment to increase our manufacturing capacity, thereby ensuring an uninterrupted supply of our drugs to an ever-increasing and diverse global patient population.

We are a committed partner to both the rare disease and pharmaceutical ecosystem in Ireland, with over 1,000 employees carrying out a range of different functions across two sites, aligned with our mission to make a difference for rare disease patients.

We are equally committed to driving innovation in the rare disease space in Ireland and to working in partnership with the Irish Government to reduce the length of time it can take for a rare disease patient to receive an accurate diagnosis and access treatment.

Date of preparation:
February 2023
M/IE/UNB-U/003

[1] Bowers, S. (2022) Many patients with rare diseases experience long waits for diagnoses, survey finds,
The Irish Times, 31 January. Available at: https://www.irishtimes.com/news/health/ many-patients-with-rarediseases- experiencelong-waits-for-diagnosessurvey-finds-1.4789212
(Last accessed: 24 February 2023)

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Rare diseases receive much less recognition and support than more common diseases, with patients and caregivers living with significant unmet health and social care needs.

Today, we are working towards better registration of rare diseases, using new genetic tests and artificial intelligence to improve diagnosis and care pathways, improving access to orphan drugs and developing new approaches to practically support patients and their families. 

Most of the rare disease research
conducted in Northern Ireland (NI)
is initiated and/or driven by families.

Supporting rare disease communities 

Most of the rare disease research conducted in Northern Ireland (NI) is initiated and/or driven by families. I’m delighted our Raising Awareness of Rare Diseases Throughout All Communities (RARDTAC) team have been able to support so many projects that bring direct positive impacts to patients and the healthcare teams who support them.

This RARDTAC team has won impressive awards for their endeavours, often going above and beyond to deliver improvements on a very limited budget. Examples include introducing new laboratory tests to accelerate rare disease diagnosis, developing clinical decision support tools and providing an evidence base to help change clinical care practices.  

However, there is still work to be done. Most actions in the NI rare disease plan 2022–23 were derived from our collaborative research, working in partnership with diverse stakeholders, including voices from people living with rare diseases at the forefront.  

Rare disease research network 

After many years in development, I am delighted to launch a funded cross-border research network with my colleague Dr Suja Somanadhan (University College Dublin), bringing hope to families living with rare disease(s) that collaborative efforts are raising awareness.  

This All-Ireland Rare Disease Interdisciplinary Research Network (RAiN) will strengthen effective links between researchers, industry, government, local authority, charity, patient and caregiver partners across Ireland.  

As Director of postgraduate research for the School of Medicine, Dentistry and Biomedical Sciences at QUB, I’m acutely aware we need to train the next generation of doctors, nurses, biomedical scientists and researchers to continue driving forward progress for people living and working with rare diseases across Ireland. 

Compelled by necessity, the rare disease community consists of pioneers developing creative and innovative health and social care transformations. 

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Have you ever heard of Aarskog Syndrome? How about Abetalipoproteinemia? Probably not. As with all rare diseases, they occur in less than 0.05% of the world population.

If we add up the total prevalence for all rare diseases, a very different picture emerges. Globally, an estimated 400-475 million people live with a rare disease, most of whom will never be diagnosed.

This lack of attention brings with it a range of unique challenges that deeply impact the lives of millions of patients across the world.

Unique challenges

For people living with rare diseases, the first hurdle is finding a proper diagnosis. There are over 7,000 rare diseases recognised, so the odds a doctor has seen a particular set of symptoms are slim.

Moreover, health data is often siloed, which can prevent medical professionals from accessing the information they need in time. Because of this, diagnoses take seven years on average in the United States and much longer in less developed nations.

Unfortunately, identifying the problem is only the start. Just as diagnosis is difficult, so is treatment, as there is little monetary incentive for developing drugs for such a small patient pool. As a result, more than 95% of rare diseases do not have an available treatment.

Since an estimated 50-75% of rare diseases begin in childhood, this lack of treatment options is a key driver of mortality among children. In fact, one-third of children with a rare disease die before their fifth birthday.

Rare diseases put a huge burden on health systems – according to one estimate, rare disease treatment made up 10% of the UK’s NHS total spending in 2016. In addition, individuals living with rare diseases often face stigmatisation due to the public’s lack of understanding, and this marginalisation is a key driver of growing health inequities globally.

More than 95% of rare diseases do not have an available treatment.

Positive advances

Collaborative research networks are improving data and resource sharing, and development of common standards and protocols is reducing the average time to a diagnosis. Advances in genomics and precision medicine are enabling researchers to better understand the underlying causes of many rare diseases and to develop targeted therapies.

Notable efforts are also being made when it comes to financing rare disease treatment. Research on ‘orphan drugs’ — which would not be profitable to produce without government assistance — are now subsidised in jurisdictions including the US, EU and Japan. Work is also ongoing to understand how novel gene therapies can be delivered to people everywhere at affordable prices.

Patient advocates are increasingly making their voices heard — both as participants in clinical trials and as partners in the research process — helping highlight and counter stigmatisation and other pressing challenges people living with rare diseases face.   While this progress is encouraging, much remains to be done. Improving our understanding and the way we support those living with rare diseases are crucial to countering health inequity and improving the lives of millions across the world.

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It’s important to educate people about ATTR amyloidosis because the symptoms are not always obvious.

I’d never heard of amyloidosis until 2020 — I became unwell at work. I initially thought I was having a heart attack.

In August 2020, I met with my consultant who informed me of the diagnosis. To determine what type I had, I went through several blood tests, and this included genetic testing. We waited up to nearly 10 weeks for the genetic blood results which confirmed I had the hereditary type.

Watch out for symptoms

In November 2020, I was referred to Dr Emer Joyce, a cardiologist with a special interest in amyloidosis. I met with Dr Joyce who confirmed I had amyloidosis which was affecting my heart, joints and nerves.

It was at this point we realised that I had symptoms for a lengthy period of time which included severe joint pain in hips, shoulder and feet, reduced feeling from the knees down, tiredness, weight loss and shortness of breath on occasion.

My blood work was improved immensely, and the treatment improved my quality of life.

Understanding the symptoms of this condition is important. People may look at me and say “he looks great” when they have no idea that it took me 20 minutes to put my socks on this morning or that I had to stop what I was doing to catch my breath.

Better life with treatment

After several months of information-gathering, doctors visits and cocktails of tablets later, in May 2021, I was told that The National Amyloidosis Centre had advised I may be suitable for a drug trial taking place mid 2021 that involved gene editing. I went over in June for assessments to see whether I was a suitable candidate, and to our disbelief, I was. I went in for review every month, then visits became more spread out.

My blood work was improved immensely, and the treatment improved my quality of life. I continue on medication for my heart and the neuropathy (pains). The symptoms vary at times and can be worse or better. I have improved feeling in my legs and feet now, too.

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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 seen in a total of approximately 50,000 people across the world, with at least 120 known mutations. Then, imagine that the third most common mutation of this rare disease is believed to have originated from a 15-mile stretch of coastline right here in Ireland, in the extreme northwest of Donegal. 

Mutation of the rare disease hATTR amyloidosis

From the tiny, remote area, this particular mutation, T80A, has spread across the world — as far as Australia in one direction and the USA in the other.

For those who are affected with the condition, the build-up of amyloid deposits in certain organs and systems, can lead to great difficulties in their function and, without treatment, can lead to organ failure and, often, death. The most common areas to be affected are the heart, the nervous system and the intestines. 

Benefits of early hATTR amyloidosis diagnosis

In the last three to four years, a number of therapeutic options have been developed for the management and treatment of hATTR amyloidosis.

It is widely believed that early diagnosis has a significant effect on prognosis. Available treatments have been shown to slow down and, in some cases, halt the progression of the disease. Recognising the ‘red flags’ for the disease in the early stage can improve outcomes for the patient. These early symptoms can be seen in the disease awareness website linked below. 

It is widely believed that early diagnosis has a significant effect on prognosis.

How to encourage early diagnosis

There is a great drive to encourage those known to be carrying the mutation — or those who have had the diagnosis confirmed — to talk to their family members openly, share the signs and symptoms to look out for and encourage them to reach out for medical advice at the first sign of any symptoms. Family cascade screening widens the pool of people being tested for the genetic mutation and can lead to the earlier diagnosis of this disease. 

Expanding treatments for hATTR amyloidosis

The last few years has seen a number of changes for patients with this disease and for their family members and carers. What was for many years described as a “rapidly progressive, debilitating, life-threatening, often fatal disease” now has treatment options which may slow down the progression and improve the patient’s quality of life. 

The profound link of hATTR to Ireland serves as an example on Rare Disease Day why local Health Care Professionals need to remember to think rare/think genetic and how members of the public can be empowered by knowing the symptoms of an endemic disease. 

DS- UK – 00003 , Feb 2023
Alnylam are the sole sponsors of this content only. They nominated the two interviewees and reviewed all content prior to publication.

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Genetic testing and screening are available for this serious, debilitating and sometimes fatal hereditary disease, hATTR amyloidosis.

Rosaline Callaghan, a retired Barrister living in Derry, learnt that she carried the gene mutation that causes  hereditary ATTR amyloidosis, in 2007. At that time, she was told that finding a treatment for this fatal disease was unlikely. 

“I saw my father die of this,” says Rosaline. “hATTR relentlessly affects your organs and nervous system.” Rosaline left work at 53 to travel, wanting to make the most of her time while she was in good health, having developed her own personal plan for the future, should the disease progress. 

hATTR relentlessly affects your
organs and nervous system.

Early signs

While travelling in Turkey in 2018, she developed arm and wrist pain overnight. “I knew it was a sign,” she says. Later, she developed pins and needles and reduced feeling in her feet. She returned home to Derry, and following investigation, it was confirmed that she had hATTR amyloidosis.

“My particular genetic mutation, T80A, originates from Northwest Donegal, so anyone genetically linked to that area should know about this — so should GPs and wrist surgeons, as Carpal Tunnel Syndrome can be an early sign,” she warns. 

Get tested for hATTR

Now, Rosaline raises awareness of hATTR amyloidosis, alongside Amyloidosis Ireland and Rare Diseases Ireland. She informs and urges people: “Today, treatment, genetic testing and family screening are available. If you suspect you may have hATTR amyloidosis, get tested now.” 

DS- UK – 00003 , Feb 2023
Alnylam are the sole sponsors of this content only. They nominated the two interviewees and reviewed all content prior to publication.

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Hereditary ATTR amyloidosis, characterised by the abnormal build-up of amyloid protein in the body’s organs, is caused by an inherited mutation in the transthyretin (TTR) gene.

Hereditary transthyretin mediated amyloidosis (or hATTR amyloidosis) affects the nerves and heart, as well as the gastrointestinal and autonomic nervous systems. Over time, patients can lose motor function, become prone to falls and eventually develop heart failure. 

Mutations of hATTR amyloidosis

 “It is a tough, unpleasant disease as it progresses,” says Professor Aisling Ryan, Consultant Neurologist at Cork University Hospital. “Until recently, we didn’t have a treatment for it.” 

There are over 120 different mutations in the TTR gene. In Ireland, the most common mutation is found in Donegal, while another recently-discovered mutation has been located in the Kerry and Cork area. Patients with this mutation often report carpal tunnel syndrome in both hands and may have a personal or family history of heart problems. 

In Ireland, the most common mutation is found in Donegal, while another recently-discovered mutation has been located in the Kerry and Cork area.

Managing the symptoms

Cork University Hospital has a specialist diagnostic and treatment centre which helps patients manage symptoms. “The availability of treatments has improved care in recent years” Professor Ryan adds. “There is solid evidence that these medicines have the potential to slow the progression or, for some patients, to improve lost function. If a health professional has even half a suspicion of amyloid, they should refer the patient to an expert. 

“It’s an evolving story — and it’s been a privilege to be part of that journey.” 

DS- UK – 00003 , Feb 2023
Alnylam are the sole sponsors of this content only. They nominated the two interviewees and reviewed all content prior to publication.

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There are over 6,000 recognised rare diseases in Ireland, with many more yet to be identified. 

Rare diseases in Ireland are not rare; collectively, over 300,000 of our citizens are affected. So, you would think that the health service of this country would be well-versed in how they scrutinise and evaluate orphan drugs relating to the treatment of these diseases.  

You might also think that a specific pathway for the assessment of these orphan drugs might already be in situ, given the significant pharmaceutical footprint we have in this country. However, this is not the case.  

Model comparison 

In Ireland, an assessment of an orphan drug or an application for reimbursement is undertaken through a rigid assessment process, where transparency is questionable — with little or no patient input.  

In other progressive EU states, models vary. Some of our Nordic counterparts operate a system where the patient is at the heart of the process; they, after all, have been diagnosed with — in many cases — a life-altering or life-limiting condition.  

Countries like Scotland, Sweden, Denmark and most recently the Czech Republic give relatively quick access to drugs for patients. Some operate a ‘risk-sharing’ partnership with the drug manufacturers where you operate on a pay-by-efficacy basis.  

Other countries make drugs available immediately, on a needs basis. All these models have the patients and their wellbeing at the centre.  

The reimbursement system is not responsive to patients’ needs.

System shortcomings 

In Ireland, we operate an archaic model with an inflexible QALY threshold of e45,000. In the case of orphan drugs and rare diseases, this threshold is rarely adhered to thus leading to an initial and inevitable refusal of the drug.  

The system does allow for subsequent assessment and further investigation, but the inevitable consequence of this bureaucracy is time — and time is crucial here. Ireland ranks among the laggards of Europe in terms of the assessment and reimbursement process with decision-waiting times ranging from 600–1,000 days, depending on the drug and circumstances.  

Reimbursement process 

Patients face an agonising wait, on what may be a whim and a prayer, often in pain, often in deteriorating health — sometimes death.  

The reimbursement system is not responsive to patients’ needs. The reimbursement process we have does nothing to encourage further research and clinical trials from the industry; and above all else, the reimbursement process here is primitive — particularly when so many of these highly sought-after drugs are manufactured here, shipped from our ports all over the globe, yet many remain unavailable to citizens who need them most.  

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Today, the last day of February, is Rare Disease Day; the day dedicated to raising awareness for the 300 million people around the world living with rare diseases.

Across the globe, the rare disease community is coming together to call for equitable access to social opportunity, treatment and care for people living with a rare disease and their families.  

People affected 

A rare disease is defined in Europe as a disease or disorder affecting less than 1 in 2,000 people. Although each condition is individually rare, collectively rare diseases affect a large number of people. One in 17 people live with a rare disease. Approximately 300,000 people are living with rare diseases in Ireland.  

Rare diseases that we often hear about include childhood cancers, cystic fibrosis, epilepsy, meningococcal meningitis, PKU (phenylketonuria), sickle cell anaemia and spina bifida.  

There are, however, more than 6,000 different rare diseases that we know of today, and 85% of these are considered ultra-rare, with each of the 5,100 ultra-rare conditions affecting less than 5 people in Ireland.  

Innovation is at the heart of achieving equity for people living with rare diseases.

Stronger together 

Rare Disease Day plays a critical part in building a rare disease community that is multi-disease, global and diverse — but united in its purpose. Since its launch in 2008, people living with rare diseases in Ireland have come together to mark Rare Disease Day.  

Our purpose is equity. Equity in practice means meeting people’s specific needs and eliminating barriers preventing their full participation in society.  

For people living with rare diseases, equity means social opportunity, non-discrimination in education and work — and equitable access to health, social care, diagnosis, treatment and research.  

Innovation is at the heart of achieving equity for people living with rare diseases. Innovation is delivering genetics and genomics. Innovation is delivering cell and gene therapies. Innovation is delivering cures. But we need innovation to extend into everything that we do to support people living with a rare disease — healthcare delivery, approaches to education and employment practices. 

Chain of lights 

Today, the rare disease community in Ireland will join the global chain of lights. It serves as a symbolic way to break the isolation of living with a rare disease in Ireland; it raises awareness of rare diseases; and shines a light on our families, neighbours and friends that are living with rare diseases.  

We invite everyone in Ireland to mark Rare Disease Day at 7 PM. Light up your home. Light up your business. Join us: show your colours, and celebrate rare. 

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Hlawulani Mkhabela

Strategic Engagement Manager, RDI

People living with a rare condition experience a kind of invisibility which exacerbates inequity, discrimination and injustice. Imagine a community of over 300 million people fighting to be seen.

On Rare Disease Day 2023, Rare Diseases International (RDI), a global network of rare disease organisations, has a simple call to action: that the world sees and recognises people living with a rare disease. With this goal in mind, on 28 February 2023, the network will host a virtual event organised in partnership with the Rare Disease Day campaign to spotlight rare disease groups around the world and help raise awareness among the public, policymakers and healthcare systems.

Recognition is a matter of life and death

In many countries, rare diseases are virtually invisible to healthcare systems and providers. Primary care clinicians are regularly unable to identify and effectively treat conditions to which they may have limited exposure. The result is a delayed diagnosis, misdiagnosis and inappropriate treatment or clinical management leading to disease progression with life-threatening consequences.

The majority of rare diseases do not have an effective treatment as research into conditions that affect fewer people is not prioritised, and companies find financial incentives insufficient to drive the development of therapies. Where treatments are available, high pricing and unequal access mean that people fail to receive potentially lifesaving therapies and care. This is especially true for communities in low and middle-income countries.

In many countries, rare diseases are virtually invisible to healthcare systems and providers.

Rare disease invisibility is social injustice

In the absence of disaggregated data, the social determinants of health — including work, gender, access to social services and education — are often left out of policies on rare diseases. For example, issues such as isolation and stigma, access to occupational opportunities and the heavy cost of rare diseases on families are often excluded from social support initiatives.

Policymakers wrongly conclude that other frameworks, such as broader health and disability policies, sufficiently cover people living with a rare disease. However, rare conditions require specific attention, which focuses on the complexities presented by rarity.

A global shift for rare disease communities

There are positive signs that this previously unseen community is gaining visibility. As many countries do not have a definition of what constitutes a rare disease, RDI, working with the World Health Organization (WHO), has developed an international description of rare diseases to help inform policymakers worldwide.

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