The Critical Role of Multidisciplinary Care in Rare Diseases

Over the past several years, significant progress has been made in raising awareness about rare diseases. Healthcare systems, patient organizations, researchers, policymakers, and the pharmaceutical industry have increasingly recognized the challenges faced by patients living with these conditions. Yet, despite advances in diagnosis and treatment, one critical reality remains: obtaining a diagnosis is not the end of the journey. In many ways, it is only the beginning.

Previous articles in this series explored the diagnostic odyssey experienced by patients with rare diseases and the consequences of delayed diagnosis. However, once a diagnosis has finally been established — often after years of consultations, uncertainty, and misdiagnoses — a new challenge emerges: how to provide comprehensive, coordinated, and effective care for conditions that frequently affect multiple organs and systems simultaneously.

This is where multidisciplinary care becomes essential.

Today, the scientific community widely recognizes that the best outcomes in rare diseases are achieved not through isolated interventions, but through coordinated teams of specialists working together around a shared goal: preserving function, improving quality of life, preventing complications, and maximizing long-term outcomes.

Complex Conditions Requiring Complex Solutions

More than 7,000 rare diseases have been described worldwide. Collectively, they affect an estimated 300 million people globally, representing approximately 6% to 8% of the world's population (1,2).

Approximately 70% to 80% of rare diseases have a genetic origin, and nearly 70% present during childhood, although many remain undiagnosed until adolescence or adulthood (3).

What makes rare diseases particularly challenging is not simply their low prevalence but their biological complexity. A single genetic mutation can trigger a cascade of effects across multiple organs and systems.

A patient may initially present with kidney dysfunction, but later develop cardiomyopathy, hearing loss, bone disease, neurological complications, visual impairment, pulmonary involvement, or endocrine abnormalities.

Unlike many common diseases that can be managed primarily by one specialty, rare diseases frequently require simultaneous involvement from numerous healthcare professionals throughout the patient's lifetime.

This complexity has transformed the concept of care delivery. The traditional model centered around a single treating physician has gradually evolved into a team-based model in which specialists collaborate continuously to address the multiple dimensions of the disease.

The Geneticist: The Conductor of the Orchestra

In most inherited rare diseases, the clinical geneticist is the professional responsible for establishing the definitive diagnosis. However, the role of the geneticist extends far beyond interpreting laboratory results.

Today, geneticists are increasingly viewed as coordinators of the patient's clinical ecosystem.

Their responsibilities include:

• Confirming molecular diagnoses.
• Interpreting genetic variants.
• Providing genetic counseling.
• Assessing familial risk.
• Explaining inheritance patterns.
• Coordinating referrals.
• Monitoring disease progression.

Several rare disease centers in Europe and North America describe the geneticist as the "conductor of the orchestra."

The analogy is particularly appropriate. Just as no single musician can perform an entire symphony alone, no individual specialist can adequately manage all manifestations of a multisystem rare disease.

The geneticist provides the overarching vision that allows each specialist to contribute their expertise within a coordinated care strategy.

Following are some examples of the dimension of this.

Mucopolysaccharidoses: A Model of Multidisciplinary Care

The mucopolysaccharidoses (MPS) represent one of the clearest examples of why multidisciplinary care is indispensable.

These lysosomal storage disorders result from enzyme deficiencies leading to progressive accumulation of glycosaminoglycans throughout the body.

As a consequence, patients may develop:

• Skeletal abnormalities.
• Cardiac disease.
• Respiratory complications.
• Hearing loss.
• Vision impairment.
• Neurological manifestations.
• Joint stiffness.
• Growth abnormalities.

Managing these patients often requires a coordinated team that includes:

• Clinical genetics.
• Cardiology.
• Pulmonology.
• Orthopedics.
• Otolaryngology.
• Ophthalmology.
• Neurology.
• Physical medicine and rehabilitation.
• Nutrition.
• Psychology.

International guidelines consistently emphasize that successful MPS management depends on structured multidisciplinary programs capable of monitoring each affected organ system over time (4).

Gaucher Disease: Beyond Hematology

Historically, Gaucher disease was viewed primarily as a hematological disorder because of its association with anemia, thrombocytopenia, and splenomegaly.

Today, however, it is recognized as a complex systemic disease affecting multiple organs and tissues (5).

Patients frequently require evaluation by:

• Hematologists.
• Geneticists.
• Hepatologists.
• Orthopedic specialists.
• Radiologists.
• Internal medicine physicians.
• Specialized nurses.

Bone disease represents one of the most disabling manifestations of Gaucher disease and requires close collaboration between multiple specialties to prevent fractures, chronic pain, and long-term disability.

This example illustrates an important principle: successful rare disease management is rarely limited to controlling laboratory values. Preserving functionality and quality of life is equally important.

Fabry Disease: Where Cardiology, Nephrology, and Neurology Meet

Fabry disease is another example of a condition whose complexity extends across several specialties.

The disease results from deficient alpha-galactosidase A activity, leading to progressive accumulation of globotriaosylceramide in multiple tissues.

Patients may develop:

• Chronic kidney disease.
• Cardiac hypertrophy.
• Stroke.
• Neuropathic pain.
• Gastrointestinal symptoms.
• Ophthalmologic abnormalities.
• Dermatologic manifestations.

Consequently, comprehensive care frequently involves:

• Nephrologists.
• Cardiologists.
• Neurologists.
• Geneticists.
• Ophthalmologists.
• Dermatologists.
• Gastroenterologists.

Importantly, many Fabry patients ultimately experience severe renal or cardiovascular complications. Early coordination among specialties can significantly influence long-term outcomes and survival (6).

Cystinosis: A Lifelong Multisystem Disease

Cystinosis provides another compelling example of multidisciplinary medicine in action.

Although many patients initially present with renal manifestations, the disease progressively affects numerous systems, including:

• Kidneys.
• Eyes.
• Endocrine organs.
• Muscles.
• Central nervous system.
• Growth and development.

Long-term management commonly requires collaboration among:

• Nephrology.
• Endocrinology.
• Ophthalmology.
• Neurology.
• Nutrition specialists.
• Clinical genetics.

As patients live longer due to improved therapies, coordination among specialists becomes increasingly important to address complications emerging during adolescence and adulthood (7).

Organic Acidemias: The Importance of Teamwork During Medical Emergencies

Among inherited metabolic disorders, organic acidemias illustrate how multidisciplinary care can become a life-saving necessity.

These conditions can trigger acute metabolic crises capable of causing severe neurological injury or death within hours.

Management often involves:

• Metabolic geneticists.
• Pediatricians.
• Intensive care physicians.
• Gastroenterologists
• Neurologists.
• Clinical biochemists.
• Specialized dietitians.

In these disorders, multidisciplinary coordination is not merely beneficial—it is essential for survival (8).

The Often Forgotten Professionals

When discussing multidisciplinary care, attention tends to focus on physicians. Yet some of the most critical contributors to patient outcomes are frequently overlooked.

Specialized Nursing

Nurses play an essential role in:

• Treatment adherence.
• Patient education.
• Monitoring adverse events.
• Coordinating appointments.
• Supporting families.

Nutrition Specialists

Nutritional interventions are fundamental in many metabolic disorders and can directly influence disease progression and quality of life.

Physical and Occupational Therapists

These professionals help preserve mobility, independence, and functional capacity.

Psychologists

Living with a rare disease can impose enormous emotional burdens on patients and families. Psychological support improves coping mechanisms, resilience, and treatment adherence.

Social Workers

Social workers often facilitate access to healthcare services, financial assistance programs, transportation resources, and community support networks.

Studies consistently demonstrate that patients treated in specialized multidisciplinary centers experience better clinical outcomes, fewer emergency hospitalizations, and higher quality of life scores than those receiving fragmented care (9).

The Mexican Challenge

While multidisciplinary care is broadly accepted as the gold standard internationally, implementation remains uneven across many countries, including Mexico.

Several structural challenges persist:

Limited Specialist Availability

Mexico continues to have one of the lowest ratios of clinical geneticists per capita among upper-middle-income countries (10).

Geographic Concentration

Most rare disease expertise remains concentrated in major urban centers such as Mexico City, Guadalajara, and Monterrey.

As a result, many families travel hundreds of kilometers to access specialized care.

Institutional Fragmentation

Patients often navigate multiple healthcare systems, including:

• IMSS.
• ISSSTE.
• PEMEX.
• SEDENA.
• SEMAR.
• State healthcare systems.

This fragmentation frequently complicates communication among specialists and creates barriers to coordinated care.

Limited Rare Disease Centers

Although several centers of excellence exist, Mexico still lacks a sufficient network of integrated multidisciplinary clinics dedicated specifically to rare diseases.

Expanding these programs could substantially improve outcomes while reducing healthcare inefficiencies.

The Economic Value of Multidisciplinary Medicine

Beyond clinical benefits, multidisciplinary care also makes economic sense.

Rare disease patients frequently undergo:

• Multiple consultations.
• Repeated diagnostic testing.
• Hospital admissions.
• Emergency room visits.
• Surgical procedures.

When care is fragmented, duplication of services becomes common.

Studies from Europe and North America have shown that coordinated multidisciplinary programs reduce unnecessary utilization, prevent avoidable complications, and improve resource allocation (11,12).

For policymakers and healthcare administrators, multidisciplinary medicine should not be viewed as an additional expense but rather as a long-term investment that improves both outcomes and efficiency.

Conclusion

For decades, the greatest challenge in rare diseases was obtaining a diagnosis. Significant progress has been made in that area, but diagnosis alone is not enough.

Once a patient receives a diagnosis, a second journey begins—one that may last a lifetime.

Scientific evidence increasingly demonstrates that the best outcomes are achieved when geneticists, medical specialists, nurses, rehabilitation professionals, nutritionists, psychologists, and social workers work together within a coordinated framework.

Rare diseases are too complex for isolated medicine.

The future belongs to integrated care models capable of addressing the biological, functional, psychological, and social dimensions of these conditions.

Ultimately, success in rare diseases is not determined solely by the availability of innovative therapies. It is determined by our ability to build multidisciplinary systems that accompany patients throughout their lives.

In rare diseases, teamwork is not an option.

It is a necessity.

References

1. World Health Organization (WHO). Rare Diseases Framework.
2. Orphanet Report Series: Prevalence and Incidence of Rare Diseases.
3. EURORDIS. Rare Diseases in Numbers.
4. Muenzer J. et al. Management Guidelines for Mucopolysaccharidoses.
5. Pastores GM et al. Gaucher Disease Management Recommendations.
6. Germain DP. Fabry Disease: Clinical Management and Multidisciplinary Care.
7. Gahl WA et al. Cystinosis: Clinical Manifestations and Treatment.
8. Journal of Inherited Metabolic Disease. Organic Acidemias Guidelines.
9. Orphanet Journal of Rare Diseases. Multidisciplinary Care Models.
10. Sociedad Mexicana de Genética Humana. Workforce and Genetic Services in Mexico.
11. OECD. Health System Efficiency and Rare Diseases.
12. EURORDIS. Economic Burden and Coordinated Care in Rare Diseases.