One day at a time

We had our genetic consuler appointment a couple weeks ago.  It was informative & so I share :)


Logan has two gene mutations.  One is more severe than the other - or at least we are led to believe that.  In a long story short kindof way here is what the expert had to say:

1. DYNC1H1 gene - the most significant mutation in Logan - he happens to have a variation of a mutation that has never been documented before.  Therefore we don't know what the exact repercussions are because of this mutation.  What we do know is that most all of the mutations of this gene involve moderate to severe intellectual disability & muscle weakness.  The doctor reiterated that we (Kevin & I)DID NOT pass this gene to Logan.  It is an act of God and as she put it ...  this particular gene mutation is what is causing Logan to be the Logan he is today.  He has a high likelihood of passing this gene on to his future kids.

2. GRIA3 gene -  This was the "variation" that was told to us was of "unknown significance" which is true but it's significance is only unknown because there are, again, no other documented gene variations like it - therefore we do not know what significance it is having on Logan.  Unlike the first gene mutation this gene mutation came from me.  It is an X chromosome mutation.  Reprocussions of a mutation in this particular gene are only present in males.  Females are XX and males are XY.  There is a chance Reagan also has this mutation but because she is a female her dominate X takes over.  Logan has only one chance at an X and he got a bad one :/ The documentations of this gene mutation are also linked to intellectual disability & autistic like qualities.  Logan has a high likelihood of passing this gene on to his future kids.

Just like the last doctor this doctor at one point started talking about the care for Logan in his adulthood and how Kevin & I and Reagan would have extra responsibilities...and once again Kevin & I had this flash of our future - with Logan.  I can't even being to put into words what we are thinking about that.  It's scary, it's sad - it's not the outlook I (anyone) ever has for the children.  You have kids so they can experience a life like the life you had - the milestones, the experiences .... 

one day at a time.

It was recommended that my parents get tested for the 2nd gene mutation as well.  It's possible that the mutation started with me - but it's also possible that I got this gene from one of them & the more information the better :)