--- title: Genomics in South Africa description: A personal view of Genomics in South Africa by Diane May, mother to Matthew who has been diagnosed with Morquio syndrome. image: https://blog.congenica.com/hubfs/Patient%20stories%20(2).png --- - [Our Customers and Partners](http://www.congenica.com/our-customers) - [Our Product Portfolio](http://www.congenica.com/congenica-products) - **Inherited Diseases** - [Rare Disease](http://www.congenica.com/congenica-rare-disease) - [Inherited Cancer](http://www.congenica.com/congenica-inherited-cancer) - [Prenatal Health](http://www.congenica.com/congenica-prenatal) - [Carrier Screening](http://www.congenica.com/congenica-carrier-screening) - [Neurodevelopmental Disorders](http://www.congenica.com/congenica-neuro) - **Somatic Oncology** - [Solid Tumours](http://www.congenica.com/congenica-oncology) - **Pathogen** - [Pathogen Surveillance](http://www.congenica.com/congenica-pathogen-surveillance) - [Our Services](http://www.congenica.com/congenica-services) - [Clinical Interpretation Services](http://www.congenica.com/congenica-clinical-interpretation-services) - [Professional Services](http://www.congenica.com/professional-services) - [Customer Support](http://www.congenica.com/customer-support) - [Pharma Services](http://www.congenica.com/pharma-services) - Resources - [Publications](http://www.congenica.com/publications) - [Supporting materials](http://www.congenica.com/resources) - [News](https://blog.congenica.com/) - [Events and webinars](http://www.congenica.com/events-webinars) - [About us](http://www.congenica.com) - [Leadership Team](http://www.congenica.com/leadership) - [Quality](http://www.congenica.com/quality) - [Investors](http://www.congenica.com/investors) - [People and Vacancies](http://www.congenica.com/people) - [Contact us](http://www.congenica.com/contact) Login ##### Please select your location and reference genome: [America - GRCh37](https://us-37.congenica.com/) [America - GRCh38](https://us-38.congenica.com/) [Europe, Middle East, Africa - GRCh37](https://eu-37.congenica.com/) [Europe, Middle East, Africa - GRCh38](https://eu-38.congenica.com/) [Overview](https://blog.congenica.com) [Genomics in South Africa](https://blog.congenica.com/genomics-in-south-africa) ![Genomics in South Africa](https://blog.congenica.com/hubfs/Patient%20stories%20(2).png) Blog Patient Advocacy RareDiseases # Genomics in South Africa 9/1/2022    |    0 min read ## Diane May is interested in genomics, not least because her son Matthew was diagnosed with Morquio syndrome (Mucopolysaccharidosis Type IVA) following genetic testing. Here she shares her story and personal view of genomics in South Africa.    ## My view of Genomics in South Africa - Diane May Genomics has become so very advanced over the last few decades. As a complete layman I follow as many of the scientific papers, publications and forums as I can. There is a lot that I don’t understand, but I do believe that genomics holds the answer to the prayers of many affected by genetic disease.   ### The situation in South Africa  Sadly, many South Africans will never have access to screening and testing and any resulting treatments will remain just pipedreams due to the current healthcare system. Less than 20% of the population have access to private healthcare, and even for this group there is little access to genetic testing. For most individuals in the public healthcare system, there is even less opportunity to benefit from these resources. South Africa has an emerging National Health System with the intention of providing healthcare for all, and all resources are being directed at this. More advanced medicine has been put aside and I don’t believe that we will see this changing in my lifetime.   ## ![Matthew - MPS (2)](https://blog.congenica.com/hs-fs/hubfs/Matthew%20-%20MPS%20(2).jpg?width=687&name=Matthew%20-%20MPS%20(2).jpg)The journey to diagnosis I never thought I would say this, but I count myself amongst the lucky ones. My youngest child, Matthew, was diagnosed with Morquio syndrome (Mucopolysaccharidosis Type IVA) five years ago. We have no previous family history on either my or my husband’s side. What we did have was private medical insurance, a steady income with some savings, and a solid education that enabled us to understand what was going on. We had good doctors who recognised that Matthew appeared to have a genetic condition. He was meeting the development milestones for his age (Morquio does not affect intellect), but his bones were not growing in the same way as other children his age.   Arrangements were made to get genetic testing overseas as local laboratories did not have the means to do so. It took several attempts before we finally received a positive diagnosis. This was no small achievement; permits had to be arranged, blood drawn and shipped to the receiving lab - and all before the samples degraded. Our medical insurance does not cover this testing, we spent our entire savings on getting the answers we needed to move ahead with the correct treatment for Matthew. This is an option that is not available to the vast majority of South Africans either on public or private healthcare.   ### The promise of genomics  In addition to the testing that we have received for Matthew, the part about genomics that I find most exciting is that we are living in a world where prenatal testing can and is being done. Babies are starting treatment in utero and having a vastly improved quality of life because of it. I hold fast to the hope that one day children like Matthew will be diagnosed early and we can find a cure, or at least they can benefit from the appropriate treatment at an early age.    ## Patient Advocacy and Engagement at Congenica A desire to improve the lives of people living with rare and inherited diseases is central to everything we do at Congenica, and our patient advocacy and engagement initiative aims to ensure the patient voice is heard loud and clear inside the company. To find out about more about our work, please [visit our dedicated web pages.](https://www.congenica.com/patients/)    [![Find out about our Patient Advocacy and Engagement work](https://no-cache.hubspot.com/cta/default/6863388/367e82c6-c42d-47b4-9d4a-4e389bc1db2d.png)](https://cta-redirect.hubspot.com/cta/redirect/6863388/367e82c6-c42d-47b4-9d4a-4e389bc1db2d)     --- ### Related articles ![The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/hs-fs/hubfs/Untitled%20design%20(8).png?width=320&height=192&name=Untitled%20design%20(8).png) 2/24/2023 #### [The Road to Diagnosis: How Genetics Transforms the Lives of Rare Disease Patients](https://blog.congenica.com/the-road-to-diagnosis-how-genetics-transforms-the-lives-of-rare-disease-patients) In recognition of Rare Disease Day, Congenica looks at the importance of a genetic diagnosis for patients and asks, what's next for rare disease? ![What’s it like to be a woman working in science?](https://blog.congenica.com/hs-fs/hubfs/Since%202016%2c%20the%20number%20of%20women%20working%20in%20STEM%20fields%20in%20the%20UK%20has%20increased%20by%20216%2c552%2c%20taking%20the%20total%20number%20over%20the%201%20million%20mark%20for%20the%20first%20time.%20Women%20now%20make%20up%2024%25%20of%20the%20STEM%20workforce%20i%20(2).png?width=320&height=192&name=Since%202016%2c%20the%20number%20of%20women%20working%20in%20STEM%20fields%20in%20the%20UK%20has%20increased%20by%20216%2c552%2c%20taking%20the%20total%20number%20over%20the%201%20million%20mark%20for%20the%20first%20time.%20Women%20now%20make%20up%2024%25%20of%20the%20STEM%20workforce%20i%20(2).png) 2/10/2023 #### [What’s it like to be a woman working in science?](https://blog.congenica.com/whats-it-like-to-be-a-woman-working-in-science) For International Day of Women and Girls in Science, we talk to three women at Congenica about their experiences of working in STEM. ![Professor Matthew Hurles discusses the Deciphering Developmental Disorders study](https://blog.congenica.com/hs-fs/hubfs/Deciphering%20Developmental%20Disorders%20(1)-1.png?width=320&height=192&name=Deciphering%20Developmental%20Disorders%20(1)-1.png) 2/8/2023 #### [Professor Matthew Hurles discusses the Deciphering Developmental Disorders study](https://blog.congenica.com/professor-matthew-hurles-discusses-the-deciphering-developmental-disorders-study) Professor Matthew Hurles, project lead for DDD study and Congenica founder, discsuses his projects, advancements in data analysis and interpretation ##### Congenica is available as a CE Marked IVD clinical decision support platform for clinical diagnostic use for inherited genetic disorders in the UK and EU, Iceland, Lichtenstein, Norway, Switzerland and Turkey. 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