Take matters into your own hands
With Katwijk Disease, patients experience brain haemorrhages at a relatively young age, around the age of 50. Many of them, including Nicole de Jong’s father, died early. Maike’s parents (her last name is known to the editors) did not know that she was at risk of getting Katwijk Disease, but she now knows that she is a carrier.
To prevent her from passing on the disease to her children, she opted for a PGT process, also known as embryo selection. “My parents couldn’t do anything, but I could now really do something about it. I took matters into my own hands and I am very proud that I was able to make that choice.”
Not an easy choice
The only PGT center in the Netherlands is located in the Maastricht UMC+ academic hospital. There it can be found out whether Eymbro’s, like one of the parents, is a carrier of the hereditary disease. Entering a PGT program is not an easy choice, says clinical geneticist Sonja de Munnik of Maastricht UMC+. It can be mentally difficult, because it sometimes takes a long time and also because an IVF process is involved anyway. In addition, there are ethical concerns for some people.
In part three of the podcast, Nicole has to make a decision: is she going to have a blood test taken to determine whether she has Katwijk disease?
2023-09-26 17:03:40
#Carrier #hereditary #disease #Science #rescue
