Rare disease symptoms can be difficult to identify, as these conditions affect fewer than 5 in 10,000 people and often have genetic origins. While individually uncommon, over 7,000 rare diseases exist, impacting 6-8% of the population. Many of these diseases present severe and chronic symptoms, with around 50% of cases emerging in childhood. Diagnosing rare disease symptoms is challenging because many healthcare professionals have never encountered these conditions in clinical practice. As a result, patients often face years of uncertainty before receiving a confirmed diagnosis. This delay means that rare disease signals may only be recognized at an advanced stage, limiting treatment options.
7 000
rare diseases are known
Only 10%
have treatment
7 years
on average to diagnose them
6-8%
world population affected
50%
are children
Only 1 in 8
patients receive proper care
Medications for rare diseases are commonly known as orphan drugs, though definitions and regulations vary across regions. Their chronic and severe nature often leads to long-term disabilities or life-threatening complications, making diagnosis and treatment complex. Additionally, the high cost of diagnostics and therapies limits access, especially in underserved areas.
Many rare diseases affect children, making early detection crucial. While some countries offer government incentives and regulatory support, financial barriers remain a major challenge. As a result, many patients and families still struggle to obtain life-saving treatments.
Complete the online questionnaire and we will try to help you
If you suspect you have a rare disease and need help diagnosing it, we’re here to help. Learn how to access our support and start your journey to answers.
Have you been experiencing disturbing, and still unexplained, symptoms for over half a year?
Do you or your doctor suspect a rare disease?
Are you looking for the right specialist or center?
The Foundation does not charge any fees!
Since 2019, Saventic Care has been helping patients find early and accurate diagnoses for rare diseases. Using AI-driven technology, we analyze symptoms and medical data to connect patients with the right specialists and medical centers, streamlining the path to proper care.
© 2025 Saventic Care. All rights reserved.
Your form has been sent. We will contact you at the phone number or email address to provide you with further information.