The critical importance of diagnosis in empowering patients and doctors
By guest contributor Priyanshu Agrawal
I am a doctor and a patient. Through my personal journey, a profound exploration of self-awareness, and medical understanding, I have come to appreciate the critical importance of accurate diagnosis. By sharing this personal account, I hope to not only shed light on my experiences but also underscore the transformative impact of proper diagnosis in managing any illness.
I grew up in small town, namely Kalapipal in state of Madhya Pradesh in India. Until the age of 16, I had a normal childhood. Reflecting on my earlier years, I recall a time filled with sports and vitality during my school days. I played hockey, volleyball, and various other sports. However, this changed after high school when I relocated from my hometown to Indore, a city in Madhya Pradesh, to pursue my dream of entering medical school. My focus shifted to preparing for the rigorous medical school entrance exam. During this time, I noticed a subtle imbalance while walking, and running became difficult. Despite these emerging symptoms, I brushed them aside, driven by my determination to secure a spot in medical school. The thought of a serious health issue seemed remote and unfathomable.
Upon successfully passing the entrance exam and entering medical school, everything appeared normal during the first year. However, it was during my second year, around the age of 22, that I began experiencing more pronounced difficulties. Riding a bicycle became challenging, and my imbalance worsened. I even noticed a slight decline in my hearing. It was at this juncture that I decided to seek guidance from a neurologist.
Doctors suspected some type of hereditary neuropathy. However, the complexity of medical terms clouded my understanding and led to a phase of ignorance and denial, typical of someone still grappling with the implications of a potentially life-altering diagnosis.
During my internship year, the symptoms became undeniable. My fine motor skills were impaired. Even simple tasks like picking up small objects or buttoning shirts became arduous. Even while dealing with the worsening symptoms, the medical student in me became curious. I began exploring the biological basis of my symptoms. By searching the internet, I self-diagnosed myself to have a condition called Charcot-Marie-Tooth (CMT) disease, a condition that causes damage to peripheral nerves. Not only did I diagnose myself to have CMT, I decided that I had the most severe form of CMT, type X.
This self-made diagnosis fueled my growing anxiety and motivated me to try alternative therapies in a hope to halt disease progression. I tried ayurvedic, homeopathic and Tibetan therapies, but symptoms persisted.
My anxiety and desperate search for treatments lead to a decline in my academic performance in medical school. The demands of preparing for postgraduate (residency training) entrance exams and clinical rotations became overshadowed by my relentless quest for solutions.
It was during this anxious period that I sought advice from a mentor, Dr Prabhudeva Hiremath, who urged me to seek a formal, medical diagnosis before trying any other remedies.
After extensive investigations, the turning point in my journey came with the final diagnosis of CMT type 4c. It is one of the least severe variants of CMT unlike CMT-X. Charcot-Marie-Tooth disease, encompasses several variants including CMT 1, CMT 2, CMT 4, CMT X, and more, each with its own subtypes. This genetic disorder primarily affects the nervous system. Typical features across variants include muscle wasting, numbness, and peripheral neuropathy. While there’s no cure currently, symptom management is possible through physiotherapy, pain medications, nutritional support, and surgical interventions for deformities.
The confirmed diagnosis of CMT 4c, while still anxiety-provoking, greatly reduced the burden of imagined worst-case scenarios. I became less worried and more motivated. The diagnosis brought clarity, tempering my fears, and gave me a renewed sense of purpose and direction. I realized that understanding the specifics of my condition empowered me to confront its challenges with greater resilience.
Being both a doctor and a patient bestowed a unique perspective, one defined by empathy and professional insight. My experiences highlighted the significance of a patient-centered approach and the profound impact of effective communication in healthcare. If I had had an accurate diagnosis earlier, it would have helped me save my time and energy in chasing ineffective therapies. In addition, I would have focused more on my education.
Reflecting on my journey, I now recognize the pivotal role of diagnosis in managing any illness. It matters both for physical and mental health. A diagnosis isn’t merely a label; it is a roadmap guiding treatment decisions, offering psychological motivation, and allowing us a chance to plan, and deal whatever may come. Knowing the diagnosis allowed me to see support from others. I found solace in the unwavering support of my family and friends. I remain grateful to them. A clear diagnosis would have also helped my doctors in offering the best care they possibly can.
In sharing my narrative, I aspire to inspire others facing similar challenges. Let my journey serve as a reminder of the resilience that emerges from understanding and confronting adversity. To those navigating the complexities of chronic illness, embrace the pursuit of knowledge, lean on support networks, and trust in the transformative potential of accurate diagnosis. Please do not let stigma or anxiety prevent you from seeking an accurate medical diagnosis. And please do not self-diagnose yourself!
Today, my symptoms are still progressing, but the pace has slowed down. I hope for a day when we might have a cure for CMT. I sincerely wish for more research in this area, especially in India, as well as support groups for people dealing with this illness. As I continue to navigate life with CMT, I am reminded of the words that have guided me: the battle may be long and arduous, but I am resilient. May my story resonate with those in search of hope and reaffirm the profound significance of diagnosis in the face of uncertainty.
About the author:
Dr. Priyanshu Agrawal is a doctor based in Madhya Pradesh, India. He lives with a chronic progressive illness called Charcot-Marie-Tooth disease. With a positive outlook on life and a commitment to health and well-being, he hopes to make a meaningful impact and contribute positively to the lives of those he serves. His Twitter/X handle is @oshu96
Disclaimer: Views expressed by contributors are solely those of individual contributors, and not necessarily those of PLOS.
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