Health and Me

Dr Aparna Ganapathy

When Symptoms Don’t Add Up: How Hidden Genetic Conditions Go Undetected for Years

In India, it is not uncommon for families to travel across cities, sometimes across states, seeking answers for symptoms that simply don’t make sense. A child who is not meeting developmental milestones. A young adult with unexplained muscle weakness. Recurrent hospital visits with no clear diagnosis.

For many, this long and frustrating search for clarity is what medicine calls the <span>diagnostic odyssey</span>.

Rare diseases are individually uncommon, but collectively they affect millions of people worldwide. Rare diseases affect an estimated 263–446 million people worldwide, spanning every geography, healthcare system, and socioeconomic context. India alone is estimated to have 70 million people living with rare diseases.

Importantly, although 70%–80% of rare diseases are genetic in origin, routine medical practices often consider genetic testing only after years of inconclusive evaluations.

In India, this challenge is amplified by several factors, including limited awareness of rare conditions, uneven access to specialized testing across regions, and a tendency to treat symptoms individually rather than look for a unifying cause. 

A child may see a neurologist for seizures, a gastroenterologist for feeding issues, and a developmental pediatrician for delays, without anyone connecting the dots.

Studies have shown that patients and their families frequently wait years before receiving a confirmed diagnosis. Globally, <span>rare disease diagnosis</span> can take anywhere between 5–30 years.

In a country like India, where healthcare expenses are often paid out-of-pocket, this prolonged uncertainty can be devastating. Beyond cost, there is the psychological toll; parents wondering if they missed something and adult patients often questioning whether their symptoms are “all in their head”. During this period, families undergo repeated tests, face conflicting opinions, and bear significant emotional and financial strains. 

Research shows that families experience profound emotional burden during the diagnostic odyssey, including stress, anxiety, and feelings of isolation.

<h2>Why Do These Conditions Stay Undetected For Years?</h2>

In many cases, the explanation is written into a person’s DNA. Genetic disorders rarely announce themselves clearly; instead, they often mimic common illnesses. Fatigue may look like anemia, developmental delay may resemble a learning difficulty, and repeated infections might be treated as isolated events rather than part of a larger pattern. Because the symptoms overlap with more familiar conditions, doctors naturally begin by treating what appears most likely.

Most healthcare systems also follow a step-by-step diagnostic approach; rule out the common causes first, then move to less common ones if symptoms persist. While this method works well for typical illnesses, it can significantly delay answers for rare genetic conditions. Without looking directly at the genetic blueprint, the underlying cause may remain hidden, even as the visible symptoms are managed one at a time.

Today, advances in genomic technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS) allow us to examine thousands of genes simultaneously. Rather than guessing which gene might be responsible, we can comprehensively analyze a patient’s DNA to search for answers.

Evidence increasingly supports the use of <span>genomic sequencing</span> earlier in the diagnosis and care of rare diseases. Similarly, studies highlight how genomic testing not only provides diagnoses but also directly influences treatment decisions and long-term care planning.

In the Indian context, integrating genetic testing earlier could transform care. Instead of years of fragmented consultations, patients could receive a precise diagnosis sooner. This clarity can:

<ul><li>Prevent unnecessary or repeated investigations</li><li>Guide appropriate treatment strategies</li><li>Inform family members about potential risks</li><li>Enable informed decisions about future pregnancies</li><li>Equally important, it replaces uncertainty with understanding.</li></ul>Of course, challenges remain. Access to testing must become more equitable. Genetic counselling must accompany testing so families can interpret results meaningfully. And clinicians need greater awareness of when to consider a genetic cause.

Encouragingly, awareness around rare diseases is growing in India, and conversations around early genomic testing are becoming more mainstream. As technology becomes more affordable and accessible, we have an opportunity to fundamentally change the patient journey.

No family should spend years searching for answers when science has the tools to help. By embracing <span>genomic medicine</span> earlier in the diagnostic pathway, we can shorten the odyssey, reduce suffering, and empower families with clarity.

Because when symptoms don’t add up, sometimes the answer lies written in our genes.

Health Conditions A-Z

health

rare disease diagnosis

diagnostic odyssey

genomic sequencing

whole exome sequencing

genetic testing india

undiagnosed diseases

genomic medicine

hereditary disorders

Bill Clinton’s Trembling Hand Sparks Parkinson’s Disease Health Concern

500 Girls In Rajasthan Receive HPV Vaccine In First Five Days Of Prevention Drive

Health & Wellness

8 Sit-Up Variations to Strengthen Your Core and Build Stability

Benefits Of Ayurvedic Health Supplement Ashwagandha

9 Anti-Inflammatory Breakfast Options You Should Try

5 Foods You Should Avoid For PCOS, Says Gynecologist

Love Sitting With Your Legs Crossed? Here’s You Should Avoid It

6 Daily Foods That Are Secretly Increasing Your Calories

9 Brain Boosters You Should Do Everyday

Hip Exercises That Will Keep You Flexible As You Age

9 Leg Exercises Office Workers’ Should Do At Home

Benefits of Having Herbal Tea Every Morning

9 Daily Habits That Boost Your Brain Power

Lower-Body Exercises That Are Game-Changers

How Drinking Apple Cider Vinegar Helps You

Aging Myths You Should Never Believe

Superfoods That Support Your Gut Health

What Happens To Your Body When You Eat Instant Noodles Every Day?

Health Issues Premature Babies Often Face

Exercises Office Workers Should Do For Their Heart Health

Reasons Why You Should Add Raw Turmeric To Your Diet

Benefits Of Drinking Milk At Night: Why You Should Do It

Food That Provides Vitamin B12 Naturally In Your Diet

Surprising Health Benefits Of Fenugreek Seeds

9 Superfoods You Should Eat For Your Brain Health

What Does Mental Health Support Look Like At Work?

Long Stretches You Should Do To Unwind From Your Day

Colon Cancer In Young Adults: Early Symptoms You Should Know

Health Benefits Of Eating Dry Fruits Everyday

Are You At Risk For Fried Rice Syndrome?

These Tests Reveal How Well You Are Aging

Lower-Back Exercises You Should Do After A Long-Day's Work

Children’s Diet – What Kids Need To Eat For Immunity Building

Common Diabetes Myths That Could Hurt Your Health

Love Spicy Food? Here’s How It Affects Your Health

Superfood List: Veggies And Fruits You Must Have For Immunity

Foods People With IBS Should Avoid

Exercises To Improve Digestion

Easy Work Lunches You Can Make In The Morning

Hunger Vs Craving: Difference Explained In 60 seconds

These Things Can Cause Your Heart To Age Faster

High Carb Foods That Are Actually Healthy

In India, it is not uncommon for families to travel across cities, sometimes across states, seeking answers for symptoms that simply don’t make sense. A child who is not meeting developmental milestones. A young adult with unexplained muscle weakness. Recurrent hospital visits with no clear diagnosis.For many, this long and frustrating search for clarity is what medicine calls the diagnostic odyssey.Rare diseases are individually uncommon, but collectively they affect millions of people worldwide. Rare diseases affect an estimated 263–446 million people worldwide, spanning every geography, healthcare system, and socioeconomic context. India alone is estimated to have 70 million people living with rare diseases. Importantly, although 70%–80% of rare diseases are genetic in origin, routine medical practices often consider genetic testing only after years of inconclusive evaluations.In India, this challenge is amplified by several factors, including limited awareness of rare conditions, uneven access to specialized testing across regions, and a tendency to treat symptoms individually rather than look for a unifying cause. A child may see a neurologist for seizures, a gastroenterologist for feeding issues, and a developmental pediatrician for delays, without anyone connecting the dots.Studies have shown that patients and their families frequently wait years before receiving a confirmed diagnosis. Globally, rare disease diagnosis can take anywhere between 5–30 years. In a country like India, where healthcare expenses are often paid out-of-pocket, this prolonged uncertainty can be devastating. Beyond cost, there is the psychological toll; parents wondering if they missed something and adult patients often questioning whether their symptoms are “all in their head”. During this period, families undergo repeated tests, face conflicting opinions, and bear significant emotional and financial strains. Research shows that families experience profound emotional burden during the diagnostic odyssey, including stress, anxiety, and feelings of isolation. Why Do These Conditions Stay Undetected For Years?In many cases, the explanation is written into a person’s DNA. Genetic disorders rarely announce themselves clearly; instead, they often mimic common illnesses. Fatigue may look like anemia, developmental delay may resemble a learning difficulty, and repeated infections might be treated as isolated events rather than part of a larger pattern. Because the symptoms overlap with more familiar conditions, doctors naturally begin by treating what appears most likely.Most healthcare systems also follow a step-by-step diagnostic approach; rule out the common causes first, then move to less common ones if symptoms persist. While this method works well for typical illnesses, it can significantly delay answers for rare genetic conditions. Without looking directly at the genetic blueprint, the underlying cause may remain hidden, even as the visible symptoms are managed one at a time.Today, advances in genomic technologies such as whole-exome sequencing (WES) and whole-genome sequencing (WGS) allow us to examine thousands of genes simultaneously. Rather than guessing which gene might be responsible, we can comprehensively analyze a patient’s DNA to search for answers.Evidence increasingly supports the use of genomic sequencing earlier in the diagnosis and care of rare diseases. Similarly, studies highlight how genomic testing not only provides diagnoses but also directly influences treatment decisions and long-term care planning.In the Indian context, integrating genetic testing earlier could transform care. Instead of years of fragmented consultations, patients could receive a precise diagnosis sooner. This clarity can:Prevent unnecessary or repeated investigationsGuide appropriate treatment strategiesInform family members about potential risksEnable informed decisions about future pregnanciesEqually important, it replaces uncertainty with understanding.Of course, challenges remain. Access to testing must become more equitable. Genetic counselling must accompany testing so families can interpret results meaningfully. And clinicians need greater awareness of when to consider a genetic cause.Encouragingly, awareness around rare diseases is growing in India, and conversations around early genomic testing are becoming more mainstream. As technology becomes more affordable and accessible, we have an opportunity to fundamentally change the patient journey.No family should spend years searching for answers when science has the tools to help. By embracing genomic medicine earlier in the diagnostic pathway, we can shorten the odyssey, reduce suffering, and empower families with clarity.Because when symptoms don’t add up, sometimes the answer lies written in our genes.