Yea, I know what you are thinking, I didnt know what the hell that means either. This is the part where my 3 years of advanced high school biology with a focus on genetics should come into focus, but oddly enough, i dont remember too much of that.
We have, however learned a great deal in the last month since this all started, and I can see that i will be learning genetics all over again.
We got Jake's genetic diagnosis, and this is what it is, a duplication of exon's 3-20 on the gene that creates Dystrophin. essentially, this means that when Jake's genetic material is being read like a sentence, there are added letters within the sentence that render it unreadable, and therefore, the Dystrophyn protein isnt being created correctly. Dystrophin in muscle tissue is like the steel belt on your tires, it protects them from wearing down. Without it, muscles will deteriorate until they become debilitated.
See, the problem with MD is that there are so many different types of genetic mutations, the treatment strategies are so diverse. There have been many promising developments recently, including human trials for new treatments, but most of these arent relevant for Jake, as they are for deletions of exons, or premature stop codons (dont ask) rather than duplications.
So that is how Duplications of Exons 3-20 has become one of the most important phrases in our life.
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