As we continue our exploration of rare diseases, Dr. Sam Patel examines their global impact, diagnostic challenges, and treatment gaps, offering insights for researchers, policymakers, and patient advocates working toward better solutions.
Rare diseases may be individually uncommon, but together, they affect an estimated 300 million people worldwide (AllHealthPolicy.org, 2023). In the United States, approximately 25 to 30 million individuals—nearly 1 in 10 Americans—live with a rare disease (AllHealthPolicy.org, 2023). Despite this vast impact, awareness, research, and treatment options remain severely limited.
Of the 7,000+ known rare diseases, only 5% have an FDA-approved treatment (NCATS.NIH.gov, 2023). This significant treatment gap leaves millions without effective medical options, underscoring the urgent need for increased research and development. Rare Disease Month, culminating in Rare Disease Day on February 28, is a global initiative designed to raise awareness, support affected individuals, and advocate for policy changes that drive progress in diagnosis, treatment, and care.
This post explores what rare diseases are, the barriers patients face, and why public awareness is a critical step in improving outcomes.
What is a Rare Disease?
A rare disease is defined differently across regions:
- United States: Fewer than 200,000 affected individuals (National Institutes of Health, 2023).
- European Union: Fewer than 1 in 2,000 people (European Medicines Agency, 2023).
- Japan: Fewer than 50,000 people (Shafiee et al., 2021).
Most rare diseases have a genetic cause, and around 70% begin in childhood (NORD, 2023). The conditions vary widely—some are degenerative and life-threatening, while others cause chronic but manageable symptoms.
Why Diagnosis is So Difficult
For most diseases, a diagnosis is relatively straightforward. For rare diseases, the process is often long and frustrating. Patients experience what’s called a “diagnostic odyssey” —years of searching for answers, undergoing incorrect treatments, and visiting multiple specialists who may not recognize the condition.
On average, it takes 5 to 7 years for a rare disease to be accurately diagnosed (NORD, 2023). Some reasons include:
- Many doctors have never seen the disease before.
- Symptoms resemble other conditions, leading to misdiagnosis.
- There are few specialized tests available to confirm a diagnosis.
This long road to diagnosis means that by the time patients receive the correct identification, they may have already lost valuable time for early treatment or management.
The Treatment Gap: Why So Few Rare Diseases Have Therapies
The lack of treatment options is one of the biggest challenges in rare disease care. Although there are thousands of rare diseases, only 5% have an FDA-approved treatment (NCATS.NIH.gov, 2023).
The reasons behind this include:
- High research and development costs – Drug development can cost over $1 billion per therapy (Haffner, 2016).
- Limited market size – With small patient populations, pharmaceutical companies see lower financial returns.
- Regulatory challenges – The complexity of clinical trials and approval processes for small groups slows down drug approval.
The Orphan Drug Act (1983) was created to help solve this problem by offering financial incentives for companies to develop drugs for rare diseases. While it has led to progress, many conditions still lack treatments.
Why Awareness Matters
Raising awareness is about more than just recognition. It leads to:
- Faster Diagnoses – Educating healthcare providers reduces misdiagnoses and delays.
- More Research Funding – Greater public interest attracts more investment into research.
- Policy Improvements – Stronger advocacy results in better laws that support patients and families.
Patient organizations, such as NORD, EURORDIS, and disease-specific advocacy groups, work tirelessly to fund research, build patient registries, and push for better treatments. Public support plays a key role in their success.
Conclusion
Rare diseases may be individually uncommon, but they affect millions of people worldwide. The more we understand, the better we can support patients and drive change. This Rare Disease Month, take a moment to learn, share, and advocate. Every story shared, every dollar raised, and every conversation started brings us one step closer to better treatments, faster diagnoses, and a more hopeful future for those living with rare diseases.
Q&A
How many people are affected by rare diseases?
Over 300 million people worldwide and approximately 25–30 million in the U.S. live with a rare disease (AllHealthPolicy.org, 2023).
Why is it so difficult to diagnose a rare disease?
Patients often go through a “diagnostic odyssey” lasting 5–7 years, involving multiple misdiagnoses and delayed treatments due to low awareness, limited diagnostic tools, and symptom overlap with other conditions (NORD, 2023).
What percentage of rare diseases have an FDA-approved treatment?
Only 5% of the 7,000+ rare diseases have an FDA-approved therapy, leaving the majority of patients without effective treatments (NCATS.NIH.gov, 2023).
Why does Rare Disease Month matter?
It raises awareness, funds research, and pushes for policy changes that improve patient access to diagnosis and treatments. Advocacy efforts drive momentum for new therapies and greater public recognition.
How can I get involved?
Visit RareDiseaseDay.org, share patient stories, support rare disease research, and engage with advocacy groups to help push for better treatments.Rare but Real: 30 million Americans—1 in 10—live with a rare disease. Despite progress, the need for treatments remains urgent.
Adapted from:
- Idea Committee – February is Rare Disease Month
- Tambuyzer, E., Vandendriessche, B., Austin, C.P. et al. Therapies for rare diseases: therapeutic modalities, progress and challenges ahead.
- Nat Rev Drug Discov 19, 93–111 (2020)
- Medical Dialogues – World Rare Disease Day