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Working with patients

RDD (2024) LR 065 (1)

Rare Disease Day 2024

Mereo marks international Rare Disease Day by welcoming experts in Alpha-1

Rare diseases often present unique challenges for the people who have them, for their families and for the healthcare professionals striving to provide accurate diagnoses and effective care. To recognise Rare Disease Day 2024, we hosted an event on 22 February for our entire team at Mereo to spend time with key leaders in the Alpha-1 community and to learn about the respiratory aspects of the condition.

We were pleased to welcome Karen O’Hara, Chair of the
Alpha-1 UK Support Group and Board Member of the recently formed Alpha-1 Europe Alliance; Professor David Parr, Consultant at the University Hospital in Coventry and Honorary Professor of Respiratory Medicine at the University of Warwick, and Dr. Marc Miravitlles, Senior Researcher and Consultant at Vall d’Hebron Hospital in Barcelona. Our expert panel shared experiences of the Alpha-1 community, helped us understand the barriers that people face in accessing an accurate diagnosis, and gave their hopes for the future for best outcomes for people with this rare condition.

Read more about the highlights of the event below.

Alpha-1 and the importance of equitable access to diagnosis, treatment and care

What is Alpha-1

Alpha-1 Antitrypsin Deficiency (AATD or Alpha-1) is a rare, genetic condition that results in reduced levels in the circulation of a protein called alpha-1 antitrypsin. Over time, it can lead to lung damage due to the irreversible destruction of the lungs’ supportive elastic tissues. Current treatment management approaches include the avoidance of pollutants, especially cigarette smoke, prompt treatment of chest infections, use of inhalers to help control symptoms and, where reimbursed, intravenous infusion of alpha-1 antitrypsin protein. However, these do not reverse or halt the progression of the disease; and Alpha-1 can be seriously debilitating and life-threatening.  Some people with AATD progress to respiratory failure and may receive lung transplants.

Understanding the lived experience of Alpha-1

Living with Alpha-1 poses a myriad of challenges for the individuals affected by this rare genetic disorder. The daily effects of AATD can have a significant impact on quality of life; and encompass not only physical limitations, such as shortness of breath, inability to carry out day-to-day tasks without significant limitations and fatigue, but also emotional burdens including changes to the ability to work and engage in social life as well as anxiety and uncertainty about the future. During the event, Karen shared personal experiences, providing a window into the profound impact of Alpha-1 from a day-to-day perspective: 
“When I was diagnosed at 40, they said my lungs were that of a 100-year-old.  And then they said I would not be around a few years from now.   But I am.  That said, even walking up a small incline that might look flat to others – that’s difficult.  They will say “that’s flat”; and I can tell you that it is not – water will run down it; and I feel that even imperceptible incline. Even just showering, bathing, getting dressed, putting your socks on, putting your shoes on. You don’t want to buy lace up shoes because that’s just a nightmare.  I had a great job teaching but walking around and standing up all day – I could not do it anymore.”
Alpha-1 is a progressive disease, meaning that these challenges worsen over time, having a more significant impact on daily life. “Now it’s even harder, I have to use oxygen. If I’m going to climb the stairs to go to bed at night, to get up in the morning, get dressed, do anything where I’m physically exerting myself - even walking 20 metres - I need to rest and get my breath back.  And I carry my oxygen with me.”
Karen’s story highlighted the resilience and strength of individuals navigating the complexities of Alpha-1, underscoring the importance of support networks and access to specialised care.

Improving diagnosis and equity

Like many rare diseases, one of the significant hurdles in managing Alpha-1 lies in diagnosis. The rarity of this condition often results in limited awareness among primary care physicians and general physicians, often leading to delays in identifying Alpha-1. Symptoms of breathlessness, wheeze and cough are frequently mistakenly diagnosed as asthma or COPD. 
Dr. Miravitlles described rarely receiving referrals of patients with a diagnosis of Alpha-1 from primary care in his practice in Spain, despite the majority of patients with COPD in the country attending primary care. “Primary care physicians are not really aware of Alpha-1. They have to deal with a lot of prevalent diseases, and rare diseases in general are not in their priorities. There is still a lack of knowledge about some rare diseases in adults.”
Underdiagnosis and late diagnosis may also be down to a lack of awareness around the GOLD Guidelines, that recommend COPD patients be tested for Alpha-1. “Unfortunately not all community hospitals follow the guidelines and do not test their patients for Alpha-1,” noted Dr. Miravitlles. “Everyone with COPD should be tested once in their lives. As Alpha-1 is genetic, it only takes one test, and it is relatively cheap and easy to do.”
Beyond a lack of awareness about Alpha-1, Professor Parr described hesitancy among healthcare professionals to conduct testing due to assumptions around the condition. “In the absence of a disease-specific treatment, there tends to be a nihilistic attitude towards testing for Alpha-1 and to referral of Alpha-1 patients to expert centres. A common misconception is that Alpha-1 is managed in the same way as COPD” said Professor Parr, “In-depth understanding of the condition is essential to management; the ability to provide accurate and reliable information to patients and to knowing when a patient’s disease progression is not characteristic of alpha-1 but is being altered by complicating co-morbidities. This kind of care can only be provided by expert centres.” 
Early and accurate diagnosis is crucial in improving patient outcomes, yet achieving this remains a formidable task. Increased education and training for healthcare providers on recognizing and testing for Alpha-1 is essential to bridge this gap but Alpha-1 is just one of several thousand rare conditions. Professor Parr predicted that the use of AI might facilitate the incorporation of appropriate diagnostic pathways in the future and improve the detection of rare diseases.

Hopes for future treatment for Alpha-1

With limited management options currently available for people with Alpha-1, each of the panellists’ wishes for the future focused on the development and provision of disease-modifying treatments.
“Obviously what we want is a treatment that cures Alpha-1, but we are far from that right now,” said Dr Miravitlles. “Patients need effective therapies that protect the lungs from disease progression.”
Professor Parr agreed, emphasizing the importance of drug development pathways that collect data to support both licensing and reimbursement: “Obtaining a treatment licence is of no use to patients in the absence of reimbursement.” 
Karen shared the same sentiment of accessible treatments: “There’s no point if it isn’t accessible, because patients aren’t going to be able to benefit from the therapy if it is not accessible.”
Continued collaboration between researchers, clinicians and people living with Alpha-1 is paramount in driving forward advancements and bringing about tangible improvements in treatment options for Alpha-1 that people living with the condition are able to access.


Spending time understanding experiences of people living with Alpha-1 and the physicians responsible for their diagnosis and day-to-day care; addressing issues related to access to effective diagnosis, and exploring hopes for future treatments, allowed us to understand the different aspects of managing Alpha-1 as a rare disease impacting people across Europe and around the world; and served as a platform to amplify voices of the Alpha-1 community. As we reflect on the insights shared during this event, it becomes evident that understanding people’s experiences, raising awareness, improving diagnostic pathways and advancing treatment options are crucial steps towards enhancing outcomes for individuals affected by rare conditions like Alpha-1 and, indeed, for all rare conditions.

Hear more from Karen O’Hara about the reality of living with Alpha-1: