How to improve the treatment of patients suffering from rare diseases

In Spain alone, around 3 million people are affected by rare diseases—the majority of them children.

In many cases, patients suffer some degree of disability, and 50% face a high risk to their health for life.

We must be aware of the enormous challenges these individuals face every day.

What if we helped amplify their voices?

One of the biggest challenges rare disease patients face is the lack of specialists. This makes getting an accurate diagnosis even more difficult.

Not knowing what’s happening, combined with feelings of helplessness, adds to a long journey of consultations with different specialists, tests, and appointments—yet still, no clear answers.

But diagnosis is just one part of the challenge. The lack of access to accurate treatments leads to health inequalities and barriers to social inclusion. Patients also face a significant economic and emotional impact. These diseases can change their lives entirely, and they must learn how to adapt.

That’s why one of the main goals of specialists and organizations such as FEDER (Spanish Federation for Rare Diseases) is to improve research, treatment, and quality of life.

They support new projects, promote knowledge, and encourage both medical and social research.

Let’s talk more about how we can help!

In many cases, patients come together to create associations that support not only themselves but also their families. These groups often work to raise funds for ongoing research.

They offer essential social and administrative support, which is vital since many patients tend to isolate themselves due to a lack of understanding about how to speak about their condition.

That’s why collaborating with these associations is so important. Patients realize they are not alone, and they find a safe space where they can share their concerns without fear of being judged. These groups help create a support network that makes living with a rare disease more manageable.

For example, FEDER (Spanish Federation for Rare Diseases) offers an Information and Guidance Service to help affected individuals:

• Identify whether their condition is considered a rare disease
• Connect with others in similar situations
• Access accurate diagnosis
• Obtain recognition for levels of dependency or disability
• Adapt their workplace to meet their needs
• Gain access to educational and social healthcare resources

As mentioned before, living with a rare disease goes far beyond the symptoms or medical treatment.

Emotional well-being—for both patients and their families—is one of the most important areas to address. It’s about being there for them at every stage of the journey: from diagnosis to treatment, and through every professional or personal challenge they may face.

FEDER recommends seeking psychological help especially in situations such as:

• During the diagnosis process
• After receiving a diagnosis
• When experiencing loneliness, fear, or a sense of being misunderstood
• If caregivers feel overwhelmed by their responsibilities

Some of the most effective strategies include psychological support workshops and peer support groups. These help identify each patient’s needs and provide timely social and emotional support.

We know that rare diseases deeply affect patients’ lives—and they also represent a significant knowledge gap in modern medicine.

More and more healthcare professionals are now choosing to specialize in rare disease research to improve patient outcomes and quality of life.

At CMC, we recognize this growing need. That’s why we develop medical education programs designed to keep professionals up to date on the latest advances in rare disease research.

Some of the areas we’ve focused on include:

• Glioblastoma
• Paroxysmal nocturnal hemoglobinuria
• Glomerulonephritis
• Generalized pustular psoriasis

And more to come!

We’re committed to expanding our catalog.

Interested in joining us? Let’s talk.

Let’s keep working together to support physicians and healthcare professionals in the research, diagnosis, and treatment of rare diseases.