To celebrate Rare Disease Day 2021 (February 28), Takeda is highlighting stories of “Rare Star Resilience” and honoring inspirational members of the rare disease community. Through this campaign, we share the unwavering commitment of five patients, families, caregivers, healthcare professionals and patient advocates who continue to inspire us in a particularly turbulent time.
Rare is strong. Rare is proud. Rare is many. Rare is resilient.
We sat down with Johan Prevot, the Executive Director of the International Patient Organisation for Primary Immunodeficiencies (IPOPI), to talk about his role supporting primary immunodeficiency (PID) patients.
2020 has shown us that each challenge presents an opportunity to drive change. Change so that the importance of prevention, of equitable access to diagnosis and care, of patient centeredness and of international collaborations is better recognized and integrated in health policies. This gives me great hope for the future and a renewed confidence in our community’s ability to come together in the most testing of times.
Tell us about your relationship to rare diseases.
I have been working in the field of rare diseases for the last two decades, specifically in the primary immunodeficiency field since 2010. Great strides have been made in terms of access to treatments, early diagnosis and newborn screening in the pursuit of one common goal: shaping a future where no one is left behind.
How would you describe the impact of rare diseases on the patient community?
Today there are over 430 different types of primary immunodeficiencies (PIDs), a significant sub-group of rare diseases which occur when a person’s immune system is absent or does not function properly.1
PIDs are life-impairing and life-threatening conditions. Fortunately, treatments exist. Early diagnosis and appropriate management help prevent complications and can have a life-changing impact for people living with primary immunodeficiencies and their families in reducing their diagnosis odyssey.1,2 However, underdiagnosis remains a huge challenge with many patients still having to go through years of recurring infections and many experience hospitalizations, because they are treated for their symptoms rather than the underlying cause.2 For severe forms of PIDs, newborn screening is a life saving intervention.2 It is estimated that, worldwide, around 80% of people living with a PID are still undiagnosed and do not have access to appropriate treatment and care.2
I feel proud to work at IPOPI, an organisation that plays a vital role in ensuring patients with PIDs worldwide are represented and have a voice in any decision-making relating to their access to diagnosis and care. IPOPI’s work highlights the need for patient centred decision making and the importance of involving patients in policy, regulatory matters, and research. It’s a great case study in the field of rare diseases.
Being able to support and provide the patient’s viewpoint in clinical care discussions and research projects is very gratifying. PID research is a telling example of how rare diseases research can significantly contribute to scientific progress at large. It offers a new understanding of gene mutations and unique insights in molecular pathways. This can in turn help us better understand the mechanisms that underlie other diseases and may help in the management of more common disorders. Investing in rare diseases has an added value for healthcare, full stop.
How was your patient community able to persevere and show resilience during such an arduous year amid the COVID-19 pandemic?
COVID-19 erupted in our world unexpectedly, taking us by surprise, bringing about fear, casting doubts and uncertainty about the future. However from the start of the pandemic, we have been in very close contact with our national member organisations and our experts. IPOPI reacted early on with the release of a first statement in February 2020, followed by a joint statement with nine other groups from around the world providing more guidance and best practices for our patient community. Several updates have been published since then, and we have also organised consultations, webchats, webinars and a policy forum. The pandemic has also had an impact on plasma donations and has further highlighted the need for global sufficiency in plasma derived medicinal products (PDMPs) based on regionally balanced plasma collection. We have been actively advocating about this and supported awareness campaigns about the need for plasma and the important role of blood and plasma donors. All in all, the PID community has come together to face these challenges in a remarkable way. It has reaffirmed and demonstrated our belief that we are stronger when we work together!
To me, resilience means believing that any step back you may take in life is an opportunity for a leap forward. It also means believing you can achieve more if you work with others. If we didn’t believe this, immunoglobulin therapies would not be on the WHO List of Essential Medicines, there would be no SCID newborn screening today and an organisation like IPOPI would simply not be what it is today.
What have you seen the rare disease community do in 2020 that inspired you?
Seeing how the entire PID community has been able to mobilize despite the circumstances: so many people, patients, their family members and friends, doctors, nurses coming together to raise awareness on social media and beyond about the priorities facing the most vulnerable populations during the pandemic. It has been amazing to see what a great community we really have!
IPOPI has been committed to supporting the implementation of national newborn screening programmes for Severe Combined Immunodeficiencies (SCID) for several years. Most recently IPOPI (in collaboration with ESID and ISNS) has launched Screen4Rare, a multi-stakeholder initiative aimed at launching an EU-wide action on newborn screening for rare diseases, using SCID newborn screening as a case study example. This campaign is a good example of an IPOPI activity that has ramifications well beyond our field and could lead to significant benefits for the rare diseases community at large.
Tell us about the significance of Rare Disease Day for you.
It is a day of opportunities to bring all the different perspectives of our respective communities under one slogan, one call for action. The World Primary Immunodeficiencies Week which is held a bit later in the year (from 22-29 April) has traditionally been supporting rare disease day as well, as its themes are inherent to those who live with a PID.
What makes you hopeful for the year ahead?
That the lessons learnt from the COVID-19 pandemic will lead to a better realization that health is truly wealth. It’s true, investing in health ultimately leads to societal well-being and economic growth.
I am also hopeful that no one will take for granted anymore what it means to lead a healthy life and to realize the freedoms it gives you. This also means being more aware of the impact our individual decisions may have on others. COVID-19 is making us understand this concept which is so true for PID patients who may not be able to get vaccinated because of their condition. I am hopeful that society will come out of this global public health crisis with a better general understanding of the value of prevention and solidarity. Just before the start of the pandemic, the UN Member States adopted a Political Declaration on Universal Healthcare Coverage that included for the first time a commitment to strengthen efforts to address rare diseases. The lessons from the COVID-19 pandemic will hopefully lead to health being more appropriately addressed and supported in national healthcare budgets to ensure everyone receives the health services they need without suffering financial hardship.
To learn more about Johan’s work, visit the IPOPI website: https://ipopi.org/