Today, May 16th, is International CDG Awareness day! I made a comic to help explain some of what is going on featuring everyone's favorite scientists and medics! I wrote up some deeper explanations for each slide under the readmore:
Slide 1: Greetings everyone, I am Optimus Prime, leader of the Autobots. May 16th marks International CDG Awareness Day. With the help of my team, we will explain what this day is about.
Slide 2: CDGs, is the name for an umbrella of diseases known as Congenital Disorders of Glycosylation. These are genetic mutations that affect how sugars and proteins form structures that are found in every cell in the human body. These genetic disorders are very rare. There are currently about 1800 known cases of CDGs across the entire planet.
Slide 3: Since these disorders are genetic mutations, each case is unique. However, there are common symptoms including low muscle tone, seizures, and difficulty with breathing and digestion among others. Each case is unique, which can make it harder to diagnose a CDG. Unfortunately, there are currently no truly effective treatments or cures for most CDGs. Current medical treatments focus on managing symptoms.
Slide 4: Not all hope is lost. There is a lot of research going on right now to find effective treatments or even cures for different CDGs. Even gene therapy has shown some promise in someday curing them. More accurate diagnostic tests are also being developed so people can get the help that they need.
Slide 5: So what can you do to help? Spread awareness! Learn more about CDGs, tell people about these rare genetic disorders, and support programs that help the families of those with CDGs.
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