A doctor’s personal battle with genetic disease CMT becomes a beacon of hope for many

Dr Priyanshu Agrawal did not know he was affected by Charcot-Marie-Tooth disease, a genetic disorder, primarily affecting the nervous system. Once diagnosed, he started his fight against the disease.

ByChetana Belagere

Published Apr 28, 2024 | 7:00 AMUpdatedApr 28, 2024 | 7:00 AM

Dr Priyanshu Agrawal first noticed the symptoms when he 16. He then didn't know that it was Charcot-Marie-Tooth disease. (Supplied)

When Dr Priyanshu Agrawal wrote about himself, it became the portrait of a doctor as a patient.

“I am a doctor and a patient,” Dr Agrawal began the guest article for PLOS Global Public Health, an international journal. 

Dr Agarwal, a young doctor based in Madhya Pradesh, lives with a chronic progressive illness called Charcot (Shahr-KOH)-Marie-Tooth disease. 

The disease, also known as CMT, is an inherited disorder, that causes severe peripheral nerve damage leading to the loss of sensation, muscle contractions, and even difficulty in walking. 

Dr Agarwal shared his experience, of having ‘no diagnosis’ to ‘wrong diagnosis’ of his condition. He is now creating awareness about the slow-progressing CMT that can be wrongly diagnosed.

Intrigued by his story, South First contacted him to learn about CMT. Dr Agarwal told an inspiring narrative that bridges the gap between being a physician and a patient.

“Unfortunately, not just the patients or general public, doctors, too, should be aware of this condition. Many doctors wrongly diagnosed my condition. I want everyone to know about CMT so that the quality of life does not deteriorate and help comes in much earlier,” he said. 

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Early symptoms ignored

Born and raised at Kalapipal, a small town in Madhya Pradesh, Dr Agrawal enjoyed an active childhood. 

It wasn’t until after his move to Indore for medical school preparation at the age of 16 that he began noticing symptoms like an imbalance while walking and difficulty running — signs that would herald the onset of a deeper health issue.

Little did Agarwal connect the symptoms to any major health issue. His focus was on preparing for the medical school entrance exam.

“Securing a seat in the medical school was all that I could think of. So the thought of a serious health issue seemed remote and unfathomable,” he explained.

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Facing the reality 

The first year at the medical school appeared normal for Agarwal. However, at the age of 22, he began experiencing more pronounced difficulties. 

“Riding a bicycle became challenging, and my imbalance worsened. I even noticed a slight decline in my hearing. Though I wasn’t thorough with medical terminologies, I knew this had something to do with nerves and decided to see a neurologist,” he said.

Doctors suspected some type of hereditary neuropathy. But medical terms made little sense to Agarwal. It led to a phase of ignorance and denial.

But the condition progressed, slowly and steadily. It became more evident during his internship years. His fine motor skills became impaired. 

“Even simple tasks like picking up small objects or buttoning up became arduous. I couldn’t tie my shoelace, my gait lost balance, and I could see my foot drop, which was like a paralysis of the muscles that lift the foot. I realised something is seriously wrong with me,” Dr Agarwal said.

The worsening symptoms aroused the curiosity of the medical student. He began exploring their biological basis. 

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Self-diagnosis as a medical student

Even as doctors failed to offer answers, he set out to find them for himself. He searched the internet and checked various mutations and permutations of diseases and symptoms. Soon, he came across a condition called Charcot-Marie-Tooth (CMT) disease.

Besides diagnosing his condition as a hereditary disease with various variants, he also concluded that he had the most severe form of the CMT variant, Type X.

“Type X of CMT is the most difficult variety to manage. I started searching for alternative therapies,” Dr Agarwal recalled.

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Tryst with alternatives 

Tibetan therapy was the first alternative he tried. It did not work. 

“I then tried homoeopathy, and ayurvedic therapies and nothing worked. The pain, the restlessness in the legs, the imbalance, foot drop, all continued and gradually increased as well,” he said.

The anxiety and desperation to look for treatments affected his academic performance. His postgraduate (residency training) entrance exams and clinical rounds as part of the course became too daunting.

It was during this period that he sought advice from his mentor, Dr Prabhudeva Hiremath, a neurologist from Bengaluru. He urged Agarwal to seek a formal medical diagnosis before trying any other remedies.

“Dr Prabhudeva came like a god in my life. The kind of support he has given me is immense. He not only boosted my morale but also showed me the right direction — first a formal diagnosis to know the genetic version of CMT I had,” Dr Agarwal explained.

Extensive investigations revealed that Agarwal had CMT type 4c. It is one of the least severe variants of CMT, unlike CMT-X. CMT has several variants including CMT 1, CMT 2, CMT 4, CMT X, and more, each with its subtypes.

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What is CMT?

CMT is a genetic disorder, primarily affecting the nervous system. While for many, the symptoms are seen in their childhood itself. However, the symptoms can go unnoticed for a few initial years.

Typical features across variants include muscle wasting, numbness, and peripheral neuropathy.

“The progression of this condition is extremely slow in some variants. Many will know only post-45 years of age when the symptoms will start becoming evident. Though this is a rare condition, it is one of the most common among genetic disorders,” Dr Agarwal said. 

While there is no cure available now, symptom management is possible through physiotherapy, pain medications, nutritional support, and surgical interventions for deformities, he added.

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A life to spread awareness

With CMT 4c confirmed and the moral support of Dr Prabhudeva, Agarwal was relieved to see there was much life to live. He became less worried and more motivated as the diagnosis gave him clarity and eliminated his fears.

“This gave me a purpose and direction. It is at this moment I decided to start a new life, a life to spread awareness about this condition. I decided to reach out to every state government and the central government to ensure this condition gets attention in medical colleges and of practicing doctors,” he explained.

Dr Agarwal said his experiences highlighted the significance of a patient-centered approach and the impact of effective communication in healthcare. 

He regretted that if his condition was diagnosed at the age of 21, or he was aware of it at the age of 16 when he was told it might be a hereditary condition, he could have delayed its progression.

He had ignored it earlier since none of his immediate family members suffered the same condition.

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Proper diagnosis 

Armed with a definitive diagnosis, Dr Agrawal focused more on managing his symptoms and continuing his medical training.

He emphasised the critical role of accurate diagnosis in medical treatment and patient well-being. It would serve as a roadmap for managing the disease and psychologically motivate the patient to adapt and plan for the future.

Dr Agrawal’s experience imbued in him a unique empathy and a profound understanding of the patient’s perspective, which he now brings to his practice. 

By sharing his story, he aims to inspire others dealing with chronic illnesses to seek accurate diagnoses and rely on professional medical advice rather than self-diagnosis.

He advocates more research and support for CMT, especially in India, where he hopes to establish more robust support networks.

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Resilience pays off

Today, Dr Agrawal continues to live with CMT, facing the challenges it brings with resilience and hope. His story is not just about the struggles of living with a chronic illness but also about the transformative potential of a correct diagnosis.

His journey underscores the essential truth in medicine: Understanding and confronting adversity is not just a path to personal resilience but also a cornerstone of effective healthcare.

“My only request to people who are facing CMT is to be mentally strong. There is medication coming your way. There is gene therapy which is showing progress on some of the variants of CMT. Also, a request to those who are around people with CMT: Give them the best possible physical and mental support,” he said.

He also advised CMT patients not to be alone to avoid mental disturbance that might lead to depression and falls since their legs would be weak. Also, quality of life could be improved with the support of friends and family.

“If I am managing even now with great determination then it is definitely because of the huge support from my friends. My fellow doctors have been giving me ideas to spread awareness about CMT and I am extremely thankful to all of them who have been supporting me and my cause. I urge the governments to look into this cause.” he requested.

(Edited by Majnu Babu).