Dr Helen Malherbe, rare diamond in Advocacy.UKZN Postdoctoral Fellow Wins Rare Diamond Advocacy Award
A Postdoctoral Fellow in UKZN’s School of Clinical Medicine, Dr Helen Malherbe, is the first ever winner of the Rare Diamond Award for Advocacy of rare diseases in South Africa.
Malherbe was presented with her award by the founder and CEO of Rare Diseases South Africa, Mrs Kelly du Plessis.
The Rare Diamond Awards were created to recognise excellence in advancement of overall healthcare, treatment and support offered by all those working and positively impacting the Rare Diseases community in South Africa. To date, no such national awards exist within the healthcare sector, and nominations were welcomed from a wide range of patients, caregivers, industry partners and fellow healthcare professionals across six different categories.
The Rare Diamond in Advocacy category honours individuals who exemplify commitment to ensure rare disease patients’ needs remain top priority and advocate for policies that expand healthcare to benefit patients, ultimately representing the patient’s voice.
Malherbe received the award in recognition of her ongoing voluntary work with the NPO Genetic Alliance South Africa which is underpinned by her post-doc research at UKZN. Her UKZN doctoral study focused on an investigation into the need for services for the care and prevention of congenital disorders (CDs) in South Africa. Key topics of her PhD thesis by publication, which was accepted unanimously by examiners without any corrections, included epidemiological transition, existing legal and regulatory framework for genetic services, the contribution of CDs to child mortality and the role of the genetic nurse.
Modelled data was generated for South Africa using the Modell Global Database of Birth Defects to estimate and geographically map the country’s disease burden of CDs – and this work is continuing as a part of her post-doctoral research in collaboration with University College in London.
Her supervisor, Professor Colleen Aldous, commented: ‘Helen led the relaunch of the Genetic Alliance South Africa (GA-SA) in August 2015 with the aim of uniting the rare disease and congenital disorders sector – which despite the diversity of conditions - faces many common challenges in accessing relevant services and trying to achieve the same broad goals for their members.’
‘Sharing this vision, underpinned by a robust, evidence-based approach, is enabling this marginalised NPO community to work together as a collective and leverage greater support. Helen’s interest in congenital disorders began after her first child, Madeleine, died from Trisomy 18 (Edward’s syndrome),’ said Aldous.
Malherbe was ecstatic to receive the award, ‘Working in the rare disease community has impacted my life immensely. By integrating my academic and GA-SA roles more closely going forward, I am hoping this will take our advocacy work to the next level. So the future holds a lot more, hard work!’
Words: MaryAnn Francis