Almost six years ago my path through life crossed with a rare disease which came to me hand-in-hand with my daughter Paula.
When I heard the words “congenital hyperinsulinism” for the first time, my brain began to give distress signals: mayday, mayday!. I realized that my school’s lessons about the human body were long forgotten, I probably didn’t remember much about them because I had never needed them again.
Maybe you also have come up against congenital hyperinsulinism (HI) and you’re wondering what the hell it means to have a congenital disease?. It’s very simple: it’s carried in the genes.
To understand it better, we will start with a quick review of Natural Sciences…
The first thing that I want to show you is this drawing by Fritz Kahn. It describes the human body as a great factory and for that I think it’s quite right:
The organism is what we see outside, the “everything,” but it is composed of many smaller and smaller parts. It is important that they all work well and work properly.
Inside the body (organism), we have different systems, such as central nervous and peripheral, cardio-circulatory, respiratory, digestive, endocrine, etc.
In these systems there are different organs interfering, such as the brain (which is “the boss of the factory”), the heart, the liver, the pancreas (the one that drives HI-families crazy), etc
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Then we find smaller units, the tissues, such as muscle, adipose, bone, etc.
If we looked more closely, we would see that the tissues are composed of cells, and that there are different types. For example: muscle, blood, nerve or bone.
Although we could examine more in depth and discover the molecules and atoms, for us it is enough if we stay in the cells.
In the case of HI, there is the human body, with its endocrine system, which the pancreas is a part, composed of tissues called islets of Langerhans or pancreatic islets, which in turn are formed by different types of cells. Of all those that make up the islets, the ones that interest us are the so-called beta cells, which are the ones that produce insulin.
Cells are the morphological and functional units of all living things (people, plants, animals, bacteria…). They are, in other words, “the unity of life.”
Although they are divided in many parts, the most important for us are the membrane and the nucleus.
The cell membrane is the outer boundary of the cell. It serves to maintain its form and to regulate the internal-external exchange.
The nucleus is the control center, something like the “factory manager” of the cell. It contains the genetic material (DNA), which is the set of “instructions” that guide the cell’s operation.
Now that we have reached the genes, the next day I will talk about them in more detail. Thus we will better understand the genetics of HI and the results of studies that can do us.
La Otra Cara de la Insulina reminds you that we are not doctors.
If you have any doubts or questions about the treatment to follow,
you should consult qualified medical personnel.