I can't wait to be able to build our life together with our baby Alex!
Something isn't okay with Alex, i'm kinda worried maybe i should book an appointment for his physical.
I think you should, just to be safe
Hi, i am Alex's pediatrician and after getting my results back i have discovered that Alex has a disease called Duchenne Muscular Dystrophy
WHAT IN THE WORLD IS THAT
This is a genetic disease known as DMD that mostly affect boys at the age of 3 and older, they are the most common people to get it because DMD is in the X recessive pattern. Boys have X and Y chromosomes from their parents and if their X chromosome has DMD mutation, they are most likely to get it.
How does that mutation arise?
DMD occurs because the mutated gene fails to produce virtually any functional dystrophin. Many cases of DMD are caused by mutations in the part of the gene that encodes this middle section. Production of the entire protein stops when the mutation is encountered. That mutation is known as Deletion when one base pair can be removed it arises because of the deletions in the dystrophin gene.
What can i do to help Alex? What will happen to his muscles?
Alex will be okay, with enough treatment and help he will eventually adjust. After awhile his muscles will begin to get weaker but if he continues to go to physical therapy, it will help him improve a lot!
Thank you so much for everything. I will be sure to contact you if i have any further questions. Goodbye!