Ahead of Rare Disease Day on the 28th February, we speak with nutritionist, author and lifestyle medicine professional Rohini Bajekal about a rarer form of diabetes, MODY, or maturity onset diabetes of the young. Rohini shared the challenges she had to overcome to finally reach her diagnosis of this rare genetic condition.

To connect with Rohini:www.rohinibajekal.comhttps://www.instagram.com/rohinibajekal Explanation of MODY: https://www.diabetesgenes.org/what-is-mody/

Guidelines for genetic testing in MODY: https://www.diabetesgenes.org/tests-for-diabetes-subtypes/guidelines-for-genetic-testing-in-mody/

MODY calculator tool: https://www.diabetesgenes.org/exeter-diabetes-app/

Genetic Test Referral Form: https://www.diabetesgenes.org/genetic-test-referral-forms/

Diabetes UK information: https://www.diabetes.org.uk/about-diabetes/other-types-of-diabetes/mody

Example case study: https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/presentation-patient-with-incidental-finding-of-raised-blood-glucose/

Plant-Based Health Professionals UK Type 2 diabetes factsheet: https://plantbasedhealthprofessionals.com/wp-content/uploads/2024/11/Diabetes-factsheet08.11.24.pdf

References Discussed:

Chakera, A. J., Steele, A. M., Gloyn, A. L., Shepherd, M. H., Shields, B., Ellard, S., & Hattersley, A. T. (2015). Recognition and Management of Individuals With Hyperglycemia Because of a Heterozygous Glucokinase Mutation. Diabetes care, 38(7), 1383–1392. https://doi.org/10.2337/dc14-2769 https://pubmed.ncbi.nlm.nih.gov/26106223/

Stride, A., Shields, B., Gill-Carey, O., Chakera, A. J., Colclough, K., Ellard, S., & Hattersley, A. T. (2014). Cross-sectional and longitudinal studies suggest pharmacological treatment used in patients with glucokinase mutations does not alter glycaemia. Diabetologia, 57(1), 54–56. https://doi.org/10.1007/s00125-013-3075-x https://pubmed.ncbi.nlm.nih.gov/24092492/

Steel AM, Shields BM, Wensley KJ and others. ‘Prevalence of vascular complications among patients with glucokinase mutations and prolonged, mild hyperglycemia’. Journal of the American Medical Association 2014: volume 311, issue 3, pages 279–286. DOI: 10.1001/jama.2013.283980 https://jamanetwork.com/journals/jama/fullarticle/1814212