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 MayGenomics 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.
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.