Genes- What's the big deal?

So after internally fighting how much I've disliked our genetics and endlessly looking at squares, circles, and triangles that are connected by lines in every direction I've come to realize just how important it is.  Maybe it's because at A&M the math part was heavily enforced, or maybe it was counting fruit flies that originally repelled me from the field, but now that I'm a father it all changes.   

Today we were allowed to separate in small groups (10 or so students) with a facilitator (MD) and an affected family from a genetic disorder.  I had the opportunity to meet a lady who had a son with a genetic mutation of a protein called connexin 26 that plays in important part in gap junctions, or structures that allow communication between 2 cells.  Just so happens that this isoform exist in the internal ear.  Thus a mutation causes practically complete deafness bilaterally.  

I felt that we were lucky that even the son (7 yrs/old) was able to come and participate in the session.  The mother talked about their experience from birth until present and how he was originally diagnosed.   This part struck me particularly strong because Grayson was just discharged Monday having performed the same test that let this mother know something was wrong with her son.  There is so much that I never thought about concerning the lifestyle changes one much commit to when faced with difficulties like these.  Not only the child but the parents and siblings will be changed forever.   All social interactions will also be altered in someway or another to accommodate the differences.  

Interestingly enough, this young boy has thrived during his childhood and was fortunate enough to qualify for a cochlear implant.  This gives him the ability to almost hear as well as anyone else although localizing signals are often confused meaning the individual must look directly at the auditory cue directly.  This brings to light also the advances in technology available for individuals with these genetic conditions.  It truly is amazing to watch the two fields grow together more and more, although with these innovations comes increased cost.  

Anyways, it was a great opportunity overall and a moment where I was able to calibrate the true importance of genetics and it's relevance to medicine, but most importantly to people, . . . real people.


WOD: 10 handstand pushups/strict pullups.  9, 8, 7, . . .2, 1.
time: 13:15