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This week’s Genetics and Health featured blog is Fight Pompe! by new b5media blogger, Juan Magdaraog, who co-writes The After Mac. Juan has been documenting his life with Pompe disease, a metabolic disorder that is caused by a deficiency in alpha-glucosidase.
Pompe disease is a rare genetic disorder causes “progressive muscle weakness throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system.” When both parents are carriers of the recessive disease allele, based on autosomal inheritance, their children have a 1 in 4 chance of having Pompe disease.
Juan first began experiencing symptoms around the age of 10 and has now been struggling with it for over 18 years. Despite this, he has not let Pompe disease defeat him. Juan is currently asking for people to buy a Fight Pompe shirt in support of fighting Pompe around the world. And, he’d like you to send him a picture of someone wearing it especially in an exotic locale (ok, I made that part up ;) ). Here’s Juan wearing his:
Go visit Fight Pompe. It will give you a rush of positive energy!
I had just been signed a project in school on Pompe disease. I’ve learned so much. I have so much respect for Juan and all the others fighting Pompe disease. You all are very brave.
I was not even awar of this disease and I plan now to write about it on my skeletal muscles website.
muscles
binu prathap: Living a healthy way is definitely important combined with modern medical science!
Juan: My pleasure, Juan. All the best in your continued quest for good health. :)
Thanks for featuring this. I really appreciate it. It’s a step toward my goal in creating better awareness for Pompe Disease
i have read about the genetic disease which is a new information for me. we shall fight aganist this through livivng a healthy way.