Saturday, April 28, 2012

Our Genetic Testing Results

I've been meaning to update for a few days, but on-call has been really busy.

I got the results from the genetic testing I ordered for Zoe and me.

They tested 4 genes.  HLA-DQ1, HLA-DQ2, HLA-DQ3 and HLA-DQ8.

HLA-DQ1 and HLA-DQ3 are the 'gluten sensitivity' genes.
HLA-DQ2 and HLA-DQ8 are the 'celiac' genes.

I have HLA-DQ1 and HLA-DQ8.  So one of each.

Unfortunately, Zoe has HLA-DQ2 and HLA-DQ8, both the celiac genes.

Having the genes doesn't guarantee that she will get celiac, but if she gets the right environmental trigger- she is predisposed to get it. To put it another way- you are 99% likely NOT to get it if you don't have these genes (nothing is ever 100%, and there are certainly more than just these 2 genes are work, but these are the only 2 they know about so far).  With only HLA-DQ8, you have a small chance of getting it.  With only HLA-DQ2 your chance is a lot bigger as this is the gene primarily associated with celiac. If you have both, HLA-DQ2 and HLA-DQ8, you chances are very, very good.

Of course, there's always a chance that it doesn't get triggered.  The primary trigger for celiac is gluten.  And the treatment for celiac is living gluten free.  So this information has confirmed that not eating gluten is the right thing to do. Even if the trigger ends up being an illness or a bad reaction to meds, and she still becomes celiac- At least she'll already be used to not eating gluten so it's not a huge life changer.

It's so strange how sometimes in life you start going down a path that you had no idea how much you really should be going that way. I mean, I had started researching gluten and autoimmune diseases just days before I was diagnosed with PBC.  Then I found out how much of a chance Zoe has of also getting this, and decided to take us both completely gluten free- and now the genetic testing comes back that she has the 'celiac genes'. That seems like someone was pushing us that direction for some reason - Call it whatever you want, Guardian Angel, Fate, whatever- It's like it was preparing us to accept this change so that it would be easier.  Or whatever, I'm not a philosopher, just saying it is really crazy how it has all worked out.

I was pretty sad after I found out she had these genes.  As if worrying about her getting PBC wasn't bad enough, knowing that her risk of celiac is so high is just another worry to add to the stack.  (Plus once you have 1 autoimmune disease, it tends to have a domino effect, I've already got 2.  I just don't want her quality of life to be affected).  But then I started thinking about it- we're actually pretty lucky.  To know this stuff when she's only 3?! To get to possibly prevent or lessen something like this for her is a chance few get.  So, always looking for the silver lining, this is actually a good thing to have found out already.

I was reading an article recently on genetic testing.  They don't know everything yet, but what they do know should be put to good use.  And genetics just need a cheek swab, totally non-invasive.  So there is a thought circulating the medical industry to run the testing for known diseases (like celiac) on newborns.  It can be so beneficial to know in advance if someone will be prone to getting a disease.  In some cases they can prevent, in others they will just know to start yearly testing at an early age because early intervention can improve quality of life.  Very interesting.

Anyway, that's it for now.  Hope everyone is having a great weekend!

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