Dr Mattias Larsson. Photo courtesy of Family Medical Practice

Dr Mattias Larsson* (in collaboration with AI)

In the last few months, the rapid advancement of Artificial Intelligence (AI) has been acknowledged through Chatbots such as GPT4 and Bing. AI has emerged as a powerful tool with the potential to transform the diagnosis and treatment of diseases, particularly in low and middle-income countries. The integration of AI into healthcare systems can bridge the gaps in access to specialised medical expertise and provide valuable support to healthcare providers. This article explores the remarkable impact of AI in unravelling rare diseases by recounting the compelling story of Minh, a young child from Việt Nam. This story is written in collaboration with AI which is, to be honest, quite laborious work to make the chatbot understand what you want to tell.

The story

In a small village nestled amidst the lush landscapes of Việt Nam, lived a vibrant young child named Minh. He was an active child, excelling in school, playing with friends, and liked to play football. However, when Minh turned eight, he gradually developed symptoms including fatigue, tremors, and unexplained jaundice that slowly drained the vibrancy from his life, leaving his parents desperate for answers. Minh's parents tirelessly sought medical counsel from various experts, hoping to unravel the mysteries behind their child's declining health. Unfortunately, misdiagnoses led to a series of unnecessary treatments, including multiple rounds of antibiotics. These misguided interventions not only failed to address Minh's underlying condition but also disrupted his gut microbiome, resulting in recurrent bouts of diarrhea and further deteriorating his well-being.

Being from a rural part of a low middle income country advanced healthcare was not widely available. However, Minh's parents learned about the remarkable integration of Artificial Intelligence (AI) and biotechnology. They turned to an international clinic in the city that had adapted the most updated state-of-the-art AI-powered diagnostic tools. Based on examinations and tests the doctor used a combination of medical experience and the new AI system. Drawing upon vast medical knowledge and powerful algorithms, they jointly analyzed Minh's data with unparalleled precision, recognizing patterns and connections, and could suggest a rare diagnosis – Wilson's disease.

AI may contribute significantly to the unravelling of rare diseases. Photo shutterstock.com

Wilson's disease is a rare genetic disorder that disrupts copper metabolism in the body. It leads to copper accumulation in various organs. The initial symptoms of Wilson's disease can be vague and nonspecific, making the diagnosis challenging. Common early signs may include fatigue, abdominal pain, jaundice, and neurological symptoms. Due to the gradual progression of symptoms, Wilson's disease is often misdiagnosed or overlooked, leading to delayed treatment. In Minh's case, the AI algorithms identified specific indicators in his medical data that pointed towards this elusive diagnosis.

A comprehensive treatment plan was devised, tailored to Minh's specific needs. Medications designed to chelate and remove excess copper from his body were prescribed, while closely monitored dietary adjustments were implemented to support liver function. Over time, Minh's health began to stabilise, and the adverse effects of the unnecessary antibiotic treatments gradually subsided.

The fusion of AI and biotechnology developed new treatment options for Wilson's disease with innovative gene therapies that target the underlying genetic defect responsible for the condition. AI-guided genetic databases allowed scientists to develop more targeted and effective treatments.

Minh's story illustrates the remarkable potential of AI and biotechnology to transform healthcare in low and middle-income settings. By harnessing the power of AI for accurate diagnoses and integrating biotechnological advancements, even the most elusive and complex diseases can be diagnosed and treated.

As AI continues to advance, it has the potential to inform healthcare providers with updated diagnostic advice and treatment guidelines. Combined with the progress in biotechnology, gene therapies may emerge as curative options for genetic disorders like Wilson's disease, offering hope for long-term remission and improved quality of life.

While AI offers tremendous potential in advancing healthcare, it is essential to recognise the importance of the human touch. We are conscious and emotional beings, not merely bits and bytes or atoms and molecules. The doctor-patient relationship, characterised by empathy, understanding, and trust, remains at the heart of healthcare. AI can enhance efficiency, accuracy, and access to specialised knowledge, but it cannot replace the empathetic connection between a doctor and their patient.

Minh's story illustrates the transformative power of AI and biotechnology in the field of healthcare. Through their integration, diagnosis becomes more accurate, treatments become more tailored for the individual patients, and the possibility of curative treatment more accessible. By striking the right balance between technological advancements and compassionate care, we can harness the full potential of AI to improve patient outcomes and enhance the healthcare system. Family Medical Practice

*Dr Mattias Larsson is a pediatric doctor at Family Medical Practice and associate professor at Karolinska Institutte and has a long experience in research on infectious diseases. He has worked with the Oxford University Clinical Research Unit and the Ministry of Health of Việt Nam. He is fluent in English, Swedish, Vietnamese, German and some Spanish.  

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