Bengaluru, 6 November 2024: India faces a mounting diabetes crisis, with over 95,600 children under 14 affected by Type 1 diabetes and an estimated 16,000 new cases annually1, underscoring an urgent need for accurate diagnoses to improve treatment options. Marking World Diabetes Day, Margaret Shepherd, the 2023 Aster Guardians Global Nursing Award winner, is driving efforts to provide early genetic testing for monogenic diabetes. With her INR 2 crore prize, Margaret has donated to a fund to offer free testing for neonatal diabetes, making life-changing diagnosis and treatment accessible globally to families in need, including in India.
Unlike Type 1 and Type 2 diabetes, which result from multiple genes or lifestyle factors, monogenic diabetes stems from mutations in a single gene. Among types of monogenic diabetes, MODY is a term used to describe the most common forms, which are often misdiagnosed as Type 1 diabetes as they occur before 25 years of age. Neonatal diabetes is a rare condition diagnosed within the first six months of life. It occurs in approximately 1 in 90,000 to 160,000 live births.1 However, around 50% of children2 with neonatal diabetes can be treated with oral medication rather than insulin injections, provided they receive an accurate genetic diagnosis. Unfortunately, genetic testing, which can cost families up to INR 125,000, remains out of reach for many.
Since winning the Aster Guardians Global Nursing Award in 2023, the team at Royal Devon University Healthcare Foundation Trust has enabled nearly 100 children from 26 countries to receive free genetic tests, identifying genetic mutations in 63% of cases. This has led to transformative changes, with 18 children shifting from insulin injections to tablets, significantly improving their quality of life. In the past year, the team have already received 9 referrals from India alone, highlighting the demand for genetic testing for neonatal diabetes in the region.
Reflecting on the Aster Guardians award, Margaret Shepherd shared how it inspired her to donate to ensure those with neonatal diabetes across the globe can continue to access genetic testing whatever their circumstances “Winning the Aster Guardians award has truly amplified the impact I can have on a global scale. It’s been a busy and fulfilling year, and I’m grateful for the opportunities it has presented to make a meaningful difference in the field of monogenic diabetes.”