PlayGreen For Environment (PFE) supports research into Sanfilippo disease, one of the 7000 rare diseases know today (other sources put the figure at 8000). Of genetic origin, Sanfillipo seriously affects the development of children.
Through its fundraising campaign, the organization aims to draw attention to all rare diseases. They affect several million people in France but remain largely unknown to the general public.
WHAT IS A RARE DISEASE?
According to sante.gouv.fr, “Diseases are considered rare when they affect 1 in 2000 people. In France, more than 3 million people are affected by one of the 7000 diseases known to date.” These conditions are often genetic, serious, progressive, and debilitating. Their rarity makes them difficult to diagnose, sometimes taking several years. This lack of guidance contributes to the isolation of affected families, who are often left to fend for themselves.
By being classified as “rare,” these diseases paradoxically become invisible. Behind each pathology lies a handful of sufferers. Under these conditions, it is difficult to create mass mobilization or influence public policy.
A LACK OF EARNINGS FOR LABORATORIES
Research funding is largely based on profitability. For pharmaceutical companies, investing millions in a condition that affects few patients is not “profitable.” This is what is known as the “orphan drug” desert. These are drugs for which few treatments are developed because there are few possible economic opportunities.
Although there are measures in place to encourage this research (orphan drug status, government funding, etc.), they remain insufficient to meet the scale of the need. As a result, only 5% of rare diseases currently benefit from specific treatment.
FRAGMENTED AND INSUFFICIENT MEDIA COVERAGE
Despite the 3 million people affected in France, rare diseases remain largely absent from mainstream media. The diversity and complexity of these pathologies make their media representation difficult. Unlike more widespread diseases, rare diseases often lack prominent figures to champion their cause, which limits their visibility.
This lack of media coverage has direct consequences for resource mobilization and public awareness. Without adequate media coverage, it is difficult to generate interest among donors, policymakers, and the general public, thus perpetuating the lack of funding and support for research and patient support.
A MOBILIZATION SUPPORTED BY FAMILIES AND ASSOCIATIONS
Faced with the lack of treatments for 95% of rare diseases, patient families play a crucial role in mobilizing resources. In France, more than 240 patient associations work to advance research and improve patient care. Organizations such as the Rare Disease Alliance bring these associations together to strengthen their collective impact.
These initiatives are not enough to fill the gap in institutional support. Associations and families need the support of public authorities, businesses, and citizens to expand their efforts and ensure significant progress in the fight against rare diseases.
A MEDICAL AND SOCIAL EMERGENCY
Rare diseases, although uncommon individually, represent a major public health issue. They often affect children, with 70% of cases beginning before the age of five. The average time to obtain a diagnosis is five years, during which time patients and their families live in uncertainty and without appropriate care.
The lack of treatments for the majority of these diseases exacerbates the situation, leaving patients without a therapeutic solution. Moreover, advances in rare disease research can benefit other medical fields, particularly genetics and gene therapy, highlighting the importance of investing in this sector for the entire healthcare system.
RECENT PROGRESS AGAINST THESE DISEASES
Despite challenges, research into rare diseases is progressing. In recent years, major advances have been made thanks to gene therapies and targeted biotherapies, particularly for conditions such as spinal muscular atrophy and certain leukodystrophies. In 2023, more than 220 orphan drugs were approved in Europe, compared to only 8 in 2000. These treatments remain rare, but their development shows that research efforts can lead to concrete results, bringing hope to families.
THE ESSENTIAL ROLE OF ENDOWMENT FUNDS
Endowment funds, such as PlayGreen For Environment (PFE), play a key role in supporting research and supporting patients with rare diseases. In France, there are more than 5600 foundations and endowment funds. Their commitment has helped raise €16 billion for causes of public interest in 2022.
These organizations help channel donations and fund innovative projects that are often overlooked by traditional channels. They also provide a platform to raise public awareness and encourage civic engagement. By supporting initiatives like PFE’s, everyone can contribute to advancing research and improving the lives of people affected by rare diseases.
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