I was fortunate enough to care for Cheena and Gangdeep from their first appointment where we discussed IVF using preimplantation genetic diagnosis but also during the pregnancy and birth of their second daughter Saira.
Their first daughter Siya has thalassemia major; which meant she couldn’t make haemoglobin required to carry oxygen around her body. Haemoglobin binds to oxygen within our red blood cells and releases to our tissues.
Thalassemia major occurs when two faulty genes are inherited from a child’s mum and dad. To stay alive Siya required regular blood transfusions to give her the vital red blood cells (and haemoglobin) her body required to survive. Red blood cells are created in our bone marrow.
Cheena and Gangdeep initially saw me with the hope of having another child without the genetically inherited condition thalassemia. This would mean undertaking IVF to create embryos and testing them to make sure they didn’t have the faulty gene. Then this genetically normal embryo would be transferred.
The added bonus was the possibility of seeing whether the embryo could be a tissue match for their daughter Siya for the purposes of a Bone Marrow Transplant. If this was possible then cord blood taken at birth could be used to provide a bone marrow transplant for Siya thereby effectively resetting her bone marrow to create red blood cells that contained haemoglobin. The chance of finding such an embryo and for it to result in pregnancy was 4%.
With the help of the team Melbourne IVF and our PGD lab, such an embryo was found.
I had the most humbling experience of my medical career having transferred the embryo and then catching baby Saira, collecting her cord blood and preparing it for the team at the Royal Children’s Hospital to provide Siya with her much needed bone marrow transplant.
This is how IVF and genetic screening can prevent illness in future children but also cure children with an illness.
