A mother’s guilt, a doc’s instinct, and a life-saving discovery – The Times of India

Byline: Dr Rajiv Kovil
At the tender age of eight, a young boy in Ahmedabad called Rishabh Modi (name changed) faced a health challenge that would alter his life forever. His parents noticed alarming symptoms — rapid weight loss, insatiable thirst and frequent urination. A visit to the doctor revealed the truth: his blood sugar levels were over 500 mg/dl and his HbA1c, a marker of long-term sugar control, was at a dangerous 10%. The normal levels for anyone under the age of 18 are under 117 mg/dl and below 5.7% respectively.
Rishabh was slipping into a state of DKA or diabetes-related ketoacidosis, a potentially life-threatening condition. This happens when your blood turns acidic because it has too many ketones due to a lack of insulin. The doctors diagnosed him with Type 1 Diabetes Mellitus (T1DM), a chronic autoimmune disease requiring lifelong insulin therapy. The family’s world turned upside down. Watching the boy endure the discomfort of injections four times a week was, quite understandably, tough for them.
However, despite their efforts, his blood sugar remained uncontrolled. In fact, over three years, his HbA1c steadily worsened, leaving his parents in a desperate whirl. Determined to seek answers, the Modis travelled from Ahmedabad to Mumbai to consult me. I carefully combed Rishabh’s reports and asked them a question they hadn’t been asked: “Does anyone else in your family have diabetes?”
Turns out Rishabh’s mother and grandmother were both diagnosed with diabetes in their early 30s. This caught my attention. I ordered additional tests. A C-peptide test showed that Rishabh’s pancreas was producing adequate insulin, not consistent with Type 1 diabetes. Something didn’t add up. This isn’t typical Type 1 diabetes. Could it be something else entirely?
Acting on my instincts, I recommended genetic testing, a move that would unravel the true mystery. The test results revealed a mutation in the HNF1A gene — evidence of a rare condition called Maturity-Onset Diabetes of the Young (MODY). Unlike Type 1 diabetes, MODY is caused by a genetic mutation that affects insulin production and is passed down through generations. It often masquerades as Type 2 diabetes but appears in younger individuals and isn’t linked to lifestyle factors.
Insulin therapy wasn’t the answer for MODY. So, I prescribed oral medications, including sulfonylureas, which help the body produce more insulin naturally. The results were almost immediate. Within weeks, Rishabh’s blood sugar levels stabilised. His HbA1c dropped from 10% to a much healthier 7.2%. For the first time in years, the Modi family felt hope. A poignant moment followed. “Did I pass this condition to my son,” Rishabh’s mother asked me through tears that conveyed a mix of relief and guilt. “This isn’t anyone’s fault,” I reassured her. “What matters is that we now know what we’re dealing with and how to manage it.”
Though MODY is more common in India than among Caucasians, the whopping cost of genetic testing — Rs 12,000 — means that many patients remain undiagnosed. For the Modi family, the journey from Ahmedabad to Mumbai wasn’t just a trip. It was a turning point. With proper diagnosis and treatment, Rishabh no longer lives in the shadow of uncontrolled diabetes.
Beyond a mere medical triumph, his story is a testament to the power of persistence, the importance of family history and the potential of advanced diagnostics like genetic testing.
Diabetes is not a one-size-fits-all condition. Each type — be it Type 1, Type 2, MODY, or even rarer forms like LADA (mix of Type 1 and Type 2) — requires a unique approach. Often mistaken for other types of diabetes, MODY requires tailored treatment, and understanding this can transform lives. The key is to dig deeper, to ask the right questions and to never give up.
Dr Kovil is a veteran diabetologist based in Mumbai. He spoke to Sharmila Ganesan Ram
QUOTE: The child’s mother and grandmother were both diagnosed with diabetes in their early 30s. A C-peptide test showed that his pancreas was producing adequate insulin. Something didn’t add up. Then, genetic testing revealed a mutation in the HNF1A gene — a rare condition called Maturity-Onset Diabetes of the Young (MODY) — that affects insulin production and is passed down through generations