AI Tool Helps Doctors Transform Rare Disease Diagnosis

Healthcare providers in India are discovering new ways to boost diagnostic accuracy using artificial intelligence tools. A recent case from Gurugram demonstrates how AI can transform complex medical diagnoses that challenge traditional methods.

A nine-year-old boy named Manoj experienced daily fainting spells for five months, according to Indian Express reports. His father, a carpenter, frequently missed work to monitor his son’s sudden attacks. Multiple specialists attempted various diagnoses but failed to identify the root cause.

“Every time he touched his ears, my heart would stop. I knew what was coming next,” his father told reporters. The family consulted neurologists who performed extensive tests for epilepsy and psychological conditions. None of the treatments worked.

Dr. Shashidhar TB from Artemis Hospital, Gurugram, explained the challenge. “When he came to us, everything had already been tried. Anti-epileptic medications, psychological counseling, multiple specialist consultations β€” nothing worked,” he said.

The medical team observed diverse symptoms beyond fainting episodes. Manoj complained of headaches, speech difficulties, and severe ear pain. Video recordings captured each episode to understand the sequence. Traditional diagnostic methods reached their limits.

Dr. Shashidhar returned to detailed history-taking and discovered crucial information. Four months before the fainting began, the child had a viral fever and severe cold. An MRI revealed an inner ear infection affecting balance and spatial awareness.

The boy’s unusual symptom provided another clue to the diagnosis. He repeatedly told doctors he saw a dog’s face instead of theirs. “Migraines affecting the brainstem can cause visual hallucinations,” Dr. Shashidhar explained to Indian Express.

Faced with a rare condition, the medical team turned to AI diagnostic platforms. “That’s when we decided to speed things up by using AI tools like Glass Health and Perplexity AI,” Dr. Shashidhar said.

Dr. Trisha Srivastava fed Manoj’s complete medical history into specialized AI systems. “Within minutes, these systems analyzed patterns that human doctors might miss, comparing the case against millions of medical records worldwide,” she reported.

The AI calculated high probability for basilar artery migraine, a rare condition. “Basilar migraine is so rare that many doctors go their entire careers without seeing a case,” according to Dr. Shashidhar.

The team immediately implemented targeted migraine therapy for the child. Results appeared quickly across the following week of treatment. The daily episodes that tormented Manoj for months completely stopped.

Today, the child continues symptom-free and has returned to normal activities. He attends school regularly and participates in sports like his peers.

Strategic Advantage

This case demonstrates AI’s competitive edge in complex medical scenarios. Traditional trial-and-error approaches often consume months of resources and patient suffering. AI systems can rapidly narrow diagnoses by analyzing vast medical databases.

For Indian healthcare providers, AI diagnostic tools offer scalable solutions. The country faces a shortage of specialized medical professionals, particularly radiologists and pathologists. According to TechSci Research, India has one doctor for every 1,511 people, falling short of WHO recommendations.

AI platforms help bridge this gap by automating routine diagnostic tasks. Healthcare startups like Niramai, SigTuple, and Qure.ai are already developing AI-driven solutions for Indian markets.

Market Impact in India

India’s AI medical diagnostics market was valued at USD 12.87 million in 2024, according to TechSci Research. The market expects to reach USD 44.87 million by 2030 with 23.10% annual growth.

Government initiatives support this expansion through the National Digital Health Mission and Ayushman Bharat programs. These frameworks provide digital infrastructure necessary for AI integration across healthcare systems.

The rising prevalence of chronic diseases creates additional demand for efficient diagnostic solutions. India reports over one million new cancer diagnoses annually but has limited specialized pathologists available.

What Business Leaders Should Know

Healthcare organizations should consider integrating AI diagnostic tools into existing workflows. Early adoption can provide competitive advantages in accuracy, speed, and resource efficiency.

Implementation requires addressing data privacy concerns and regulatory compliance issues. India continues developing clear regulations for AI healthcare applications, which may affect deployment timelines.

Startup founders in health-tech sectors can explore partnerships with established healthcare providers. Collaboration opportunities exist in medical imaging, pathology analysis, and predictive diagnostics.

For Manoj’s family, AI technology restored normalcy to their lives. His father can return to work without constant anxiety about his son’s condition. “My son is playing, studying, and being a normal child again. We have got our life back,” he said.

The case highlights AI’s potential in treating rare diseases more effectively. As medical AI continues evolving, it offers solutions where human pattern recognition reaches its limits.

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