Health

As a graduate doctor coming to Canada, I never imagined that my life was going to have so many changes. Last year, I knew a family without knowing that one of the daughters was having this rare disease called KCNB1 Encephalopathy. At the beginning, I did not know anything about it or hear it before, so I started some research.

This disease is characterized by a slow development of brain function as well as the physical and motor development of the child and its most frequent complication is epilepsy. Its cause is unknown and only a total of 65 cases have been reported throughout the world. In the city of London, Canada, a group of geneticists have been conducting studies to help find the cause of this condition and how to prevent future mutations in the affected gene.

It is estimated that the quality of life of those children is not high and that many of those who do not suffer from epilepsy as their main complication manage to develop the ability to walk at the approximate age of 7 years but not the ability to speak or communicate.

On November 14, KCNB1 awareness day is celebrated, represented by the color violet in honor of all the children who fight this disease daily. It is important to know and inform yourself about conditions like these since they are called “rare diseases” that are still being studied. For me it has been more than 5 months full of challenges with that little patient but all I can say is that the strength some children can have is unimaginable, even when their bodies fight against getting better and have some recovery.