Julie Malan laid the foundation for the support structure offered by Gknowmix through private practicing genetic counsellors.
Qualifications: BSc, MSc (Human Genetics) Field(s) of Practice: Genetic Counselling.
Julie is a registered genetic counsellor with a special interest in breast cancer genetics and the role gene-environment interaction may play in the development of disease. She graduated in 1993 with a BSc degree from the University of Pretoria and obtained her MSc degree in Genetic Counselling 5 years later. In 2003 Julie registered as the first private practicing genetic counsellor in South Africa and was appointed as the Genecare consultant genetic counsellor between 2003 and 2007. She then established an independent private practice as one of the consulting Gknowmix genetic counsellors and currently works at Ampath in Pretoria.
Her Real-life story: When our son was born on 14 March 2006 our life seemed perfect. At birth he weighed a healthy 3.95 kg but soon after we took him home he became nauseous and vomited after every feed. After consulting the paediatrician we took him to hospital where he was admitted without anyone knowing what was wrong with him. As the paediatrician was examining him he suddenly had a convulsion in his left arm. A CT scan was taken which showed that he had sub-dural bleeding of unknown cause and needed plasma and a blood transfusion fast. A neurosurgeon was called in and we were transferred to a paediatric ICU ward. Our whole world came to a standstill when we were told they are not sure what will happen through the night – “It’s not in our hands” are words I will never forget. They also informed us that there seem to have been bleeding in the brain in utero already and that could have caused some brain damage. They also could not go ahead and operate to relief the pressure on the brain, because they did not know what caused the bleeding. Blood tests were done to look at his clotting profile and the doctors kept him sedated to keep the head as still as possible. At that moment all we could do was to start praying and ask our friends to do the same.
The next day we were sitting on our usual place in front of the ICU together with my parents in law when the sister who looked after Ruan that day, came out on her way home. Just as she started walking away, she turned back and said to us, “Oh by the way, your son has Haemophilia A and needed factor VIII.” Being a genetic counsellor I immediately realised that this is an X-linked inherited condition, meaning that I was a carrier of the mutation, passing it onto our son. I also thought of my daughter who now had a 50% chance of also being a carrier and then also have a 50% chance to have affected sons. With regards to my son, all his daughters will be carriers of the Haemophilia A gene mutation.
I felt that I would have liked to receive such news about a genetic condition in privacy with my husband. My husband and his parents turned to me asking me what this meant, and I had to tell them that this was an inherited disease and that I might well be the carrier of this mutation, passing it onto our son. All I felt at that time was guilt for passing this onto our son and anger at the sister for the way she chose to break this news to us. Suddenly I had to think of how many times I told parents not to feel guilty about the genes they pass on to their children because we cannot choose our genes, and now I had to believe it myself. My husband and I had a counselling session with a psychologist that evening which helped us deal with our emotions. As a genetic counsellor I again realized what an important role counselling has in genetic diseases, not only in the way we break bad news to our patients, but also how we support them and help them work through their emotions. I had to go through a process of working through this unexpected news and wondering if there wasn’t a way I could have prevented this from happening. My mother had a son almost 40 years ago who only lived 7 days and was said to have had a Vitamin K deficiency. She is one of 10 children – 5 brothers and 5 sisters all with their own children and grandchildren, and no other case of Haemophilia. So, with that history, no-one would have thought to test for Haemophilia.
As a genetic counsellor, I once again became conscious of how often people don’t take the emotional aspects of breaking bad news into consideration. It made me appreciate just what an important role we as genetic counsellors and medical professionals play. It is our responsibility to make sure our patients can cope with bad news and to help them work through the bad news in such a way that they can carry on with their lives.