Challenges to Early Diagnosis of Alpha-1 and How to Overcome Them

Published on December 6th, 2021

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Proper and timely diagnosis – the first stumbling block for patients suffering from rare diseases

The first step before treatment for any disease or illness is diagnosis – but we all know that this is sometimes the hardest part of the journey towards recovery. Getting a proper and timely diagnosis is crucial for anyone whose health might otherwise be threatened but is something especially difficult to find when one is not even aware that they are at risk.

Such is the case with Alpha-1 – many members of our community oftentimes find out they are sick years and decades into their lives and only after its consequences have already started to be felt. One of the main issues with getting an early Alpha-1 diagnosis is the fact that it is common for healthcare professionals to overlook it and instead point to other possible causes for lung and liver problems. What makes diagnosis even more complicated, however, is that it requires both an expert’s knowledge and understanding of the disease as well as special testing capabilities – and as many of us are painfully aware, both are often hard to find in some parts of Europe.

The role of patients and the importance of advocacy

What is not in short supply, however, are people who are eager to make a change and improve the lives of members of our Alpha-1 community. History has taught us the importance of input by groups of individuals when it comes to shaping policies and understanding and patients suffering from rare diseases are in no way different.

Over the last two years, advocacy has changed dramatically – the COVID-19 pandemic has forced an enormous change on ordinary citizens who are eager to make their voices heard with the Alpha-1 community being doubly impacted by this. Not only did COVID-19 change how awareness-raising and advocacy campaigns work, but it also exacerbated the already precarious conditions faced by Alphas. This exact experience should serve as a foundation for a renewed push to change policymakers’ perception of the community and make them understand the issues that it faces – like the challenges to early diagnosis, which is something that can most definitely be, at least partly, addressed on a legislative level.

The patient community and policymakers – a mutually beneficial partnership

European policymakers are always eager to make change happen. Unfortunately, they can’t do this on their own. More often than not, when it comes to healthcare, it is up to patients to make their case for why their issue needs to be resolved – especially on a national level.

Once a relationship has been established, however, policymakers can and will fight for change. Over the last few decades, the EU has made tremendous progress in establishing different frameworks meant to help patients get the care that they need. The further strengthening of this partnership can only lead to more benefits for the patient community – the more cooperation and awareness exists between political actors and their constituents, the easier it will be for them to ultimately succeed in fine-tuning policies that are crucial for thousands of people.

Fruits of decades-long work

We have already witnessed a substantial transformation in the way that the European Union approaches healthcare – and while these changes have been somewhat slow and gradual, they have nonetheless bore fruit. In terms of addressing one of the primary challenges that patients suffering from rare diseases, namely timely and accurate diagnoses, several frameworks and projects have been put forward or have already been established.

First off, the European Reference Networks, established through the Cross-border Healthcare Directive have become a massively important pillar of knowledge and information-sharing between healthcare professionals and researchers. This has made it easier for them to quickly determine a more accurate diagnosis and has more certainly saved the lives of thousands of patients.

Furthermore, currently in the EU’s legislative pipeline, one can find the European Health Data Space, which is meant to help out the digitalization of the EU’s healthcare services and, more importantly, allows the pooling of anonymous patient data into a single hub that can be accessed by healthcare workers and scientists. Through it, professionals will be able to not only gain knowledge on illnesses that they might have otherwise been unprepared to approach, but will also help them in finding and testing cures for different diseases.

These two examples are but a blueprint for what can be achieved by working together. Ultimately, making sure that both patients and policymakers are on the same page can mitigate many challenges faced by Alphas, including timely and proper diagnoses. But while EU policymakers aid in refocusing the attention of the bloc’s institutions and work towards establishing and bolstering already existing mechanisms of knowledge-sharing, it is also up to the members of the patient community to make their voices heard.

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