World Diabetes Day: A Global Nursing Award Winner Brings Free Genetic Testing for Neonatal Diabetes to Families in Need

• Winner of Aster Guardians Global Nursing Awards 2023 – Nurse Margaret Shepherd from UK donates to fund for free genetic testing for neonatal diabetes from 2 CR INR prize
• Nearly 100 children from 26 countries received free genetic testing in the past year, wherein genetic mutations were identified in 63% of cases.
• 9 referrals were received from India alone, highlighting the need for genetic testing for neonatal diabetes in the region.
• 18 children were able to switch from insulin injections to tablets, improving their quality of life significantly.
  Chennai, 06 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.”
  In addition to funding neonatal diabetes tests, she has expanded awareness through a podcast series on genetic diabetes, with co-host Professor Andrew Hattersley. The podcast, available at www.1in6b.com, has garnered over 7360 downloads from 32 countries, increasing awareness and making critical research in Monogenic diabetes easily accessible to a global audience in an engaging format.

Inspired by the Aster Guardians award, Maggie expanded her reach internationally, collaborating with colleagues on an NIHR global Health grant. This collaboration has seen the appointment of three PhD students in Africa and upcoming qualitative research in Uganda, furthering the understanding and treatment of diabetes in diverse global communities.
For families needing free neonatal diabetes testing, the team at Exeter continues to accept referrals, which can be accessed through DiabetesGenes.org. Indian families, among others globally, can apply for this testing through a simple process that involves submitting a completed request form and emailing Dr. Elisa De Franco directly at [email protected] to confirm eligibility. For those who qualify, Exeter provides testing through crowdfunding resources to cover costs typically charged at £1250 GBP for patients who can afford the service independently.
This World Diabetes Day, Margaret Shepherd’s initiative shines a light on the importance of accessible genetic testing, helping to bridge the gap for families who face financial barriers in healthcare. The project emphasizes the broader need to support healthcare equity on a global scale, ensuring early and accurate diagnoses for children who may otherwise go untreated.

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