Stephen Hawking’s Defiance of Predictions: A Hope Lesson Mexico Shouldn’t Ignore

Introduction

“A Lesson of Hope That Mexico Shouldn’t Ignore”

The headline of this column, dear readers, directly evokes the exceptional longevity of Stephen Hawking, who lived 55 years more than predicted by a rare disease known as ELA (Lateral Sclerosis Amiotrófica), a degenerative condition that destroys motor neurons. This parallels the Mexican government’s neglect, acknowledging the National Day of Rare Diseases on February 28th without effectively upholding patients’ rights to healthcare, medications, devices, and assistance. Hawking’s story contrasts sharply with the reality faced by those suffering from rare diseases in Mexico.

Understanding Rare Diseases

Rare diseases affect fewer than 5 in every 10,000 people. Despite their name, they are not insignificant; instead, each affects a small number of patients. However, collectively, there are over 7,000 conditions affecting more than 300 million people worldwide (8 million in Mexico), impacting 1 in 15 individuals on the planet.

Medications designed to address these conditions are called orphan drugs. Due to their low market profitability, they require public incentives for research, approval, and patient access. The U.S. introduced the Orphan Drug Act in 1983, followed by Japan, Europe, and other countries.

In Mexico, it wasn’t until 2012 that the General Health Law was reformed to recognize this category, and in 2023, an agreement was published that finally included all rare diseases in the WHO’s International Classification. This is a significant step forward, though still insufficient, as only about two dozen diseases have effective support.

Humanizing the “Rare” – Examples of Mexican Conditions

1. Cystic Fibrosis – a genetic disease damaging the lungs and digestive system. Medication: ivacaftor.
2. Hemophilia – a coagulation disorder causing severe bleeding. Medications: recombinant factors VIII and IX.
3. Enzyme Replacement Therapy for Pompe Disease – a progressive muscle-weakening condition. Therapy: alglucosidase alfa.
4. Enzyme Replacement Therapy for Gaucher Disease – a condition causing lipid accumulation in the liver, spleen, and bones. Therapy: imiglucerase.
5. Turner Syndrome – a genetic alteration affecting female development. Treatment: growth hormone and estrogens.
6. Phenylketonuria – an inability to metabolize phenylalanine. Treatment: special diet and sapropterin.
7. Fabry Disease – a condition causing fat accumulation in blood vessels and organs. Therapy: agalsidase beta.
8. Spina Bifida – a congenital spinal cord defect requiring surgeries and multidisciplinary therapies.
9. Histiocytosis – abnormal immune cell proliferation. Treatments: targeted chemotherapy.
10. Congenital Hypothyroidism – absence of thyroid hormone at birth. Treatment: levothyroxine.

Each diagnosis represents a story of struggle: parents searching for answers in hospitals, children hoping for opportunities to grow with dignity, and adults facing limited job and social opportunities.

Mexico’s Standing Against the World

While the international community advances with the resolution WHA78.11 approved by the 78th World Health Assembly on May 27, 2025, titled “Rare Diseases: A Global Health Priority for Equity and Inclusion,” Mexico lags behind. Diagnosis in Mexico can take up to a decade, with no updated national records or sufficient specialty centers. Patients must resort to expensive imported treatments, inaccessible for most.

The current federal administration denies this reality, betting on centralized purchasing without addressing shortages and abandoning those who need it most. Health should not be measured in votes but in lives.

The Future: Science and Innovation for Humanity

Despite these challenges, scientific advancements offer promising solutions:

1. Advanced genome sequencing: whole-genome and exome techniques can identify previously invisible mutations. Models like RENEW at Mayo Clinic periodically reanalyze data and achieve new diagnoses as global knowledge advances.
2. Artificial Intelligence (AI): algorithms like the Rare Phenotype Prediction Transformer analyze clinical histories and detect subtle patterns, accelerating diagnosis even in ultra-rare cases.
3. 3D Facial Imaging: scanners recognizing facial features linked to genetic syndromes, facilitating early diagnoses.
4. Multi-omics Biomarkers: integrating genomic, proteomic, and metabolomic data to create “biological fingerprints” distinguishing complex diseases.
5. Digitalization and Remote Access: global electronic records and mobile apps for real-time symptom tracking, connecting patients, doctors, and researchers.

These innovations, supported by international cooperation and WHO leadership, can shorten the diagnostic journey and bring hope to millions.

Towards a Mexican Commitment

In Congress, we have proposed a reform to the General Health Law and the creation of a robust legal framework: expand newborn screening, establish a national registry, ensure access to orphan drugs, and promote national research.

Mexico cannot remain on the sidelines of this global commitment. Understanding that a rare disease is not rare to those who suffer but their entire lives, the challenge lies in placing empathy at the heart of policies, walking in the shoes of those who suffer, and transforming invisibility into action.

Key Questions and Answers

• What are rare diseases? Rare diseases affect fewer than 5 in every 10,000 people. Despite their name, they are not insignificant; each affects a small number of patients. However, collectively, there are over 7,000 conditions affecting more than 300 million people worldwide.
• What are orphan drugs? Orphan drugs are medications designed to address rare diseases. Due to their low market profitability, they require public incentives for research, approval, and patient access.
• What challenges does Mexico face regarding rare diseases? Mexico faces significant delays in diagnosis, with no updated national records or sufficient specialty centers. Patients must resort to expensive imported treatments, inaccessible for most.
• What scientific advancements offer hope? Advanced genome sequencing, artificial intelligence, 3D facial imaging, multi-omics biomarkers, and digitalization & remote access are promising solutions that can shorten the diagnostic journey and bring hope to millions.
• What is Mexico’s role in addressing rare diseases? Mexico must not remain on the sidelines of global commitments. By placing empathy at the heart of policies, walking in the shoes of those who suffer, and transforming invisibility into action, Mexico can make a significant difference.