Human beings are made up of cells—trillions of them, in fact—all working in concert to ensure that our bodies function properly. They convert food into energy, send signals from your brain to your body, and they form the tissues that make up our organs. They can even make copies of themselves using our own internal coding, otherwise known as DNA.
Nevertheless, sometimes those trillions of cells don’t function properly. An error in that internal coding of ours can cause our cells to malfunction, cascading into a plethora of issues. This is what happens with Pompe disease.
What is Pompe Disease?
Children inherit DNA from both parents, good and bad. With Pompe disease, a genetic mutation is carried by (but typically does not affect) both parents of a specific child. If that genetic mutation is passed on to the child by both parents, then that child can end up with Pompe disease.
This mutation is essentially an error in our DNA’s coding, causing our bodies to incorrectly produce less of the enzyme acid alfa glucosidase (GAA). GAA is responsible for breaking down complex sugars in the body, and a deficiency of this enzyme can lead to a build-up of sugars in the organs and muscle tissues.
Infantile vs. Late-Onset
Infantile form (or early onset) is a type of Pompe disease that affects only children. Late-Onset, however, impacts juveniles and adults. As seen in the illustration above, this form of Pompe disease results in the deterioration and weakness of the muscles, specifically in the legs and trunk. This can then progress into the respiratory system, ultimately leading to respiratory weakness and/or failure. The weakness and breakdown of the body is not only prevalent in the muscles themselves, but also in the way the subject struggles to hold themselves upright.
Such an illustration is meant to depict the realities people face when living with Pompe disease, while also informing others of this condition. To see more of these illustrations, check out my portfolio page here.