Genetics Update

Miss M’s latest genetic test was negative, meaning they didn’t find a mutation in the specific gene they sequenced (GDF6), so they still have not found a genetic cause for her Klippel-Feil syndrome.  There is one other genetic mutation (GDF3) which has been associated with KFS, but clinical testing for this is not available in the US.  And, of course, there are likely many unknown genetic mutations which could lead to KFS.

Our only other option for genetic testing right now would be to do whole exome sequencing.  Since KFS is pretty well defined as her “diagnosis”, there is really no pressing need to do further genetic testing so we will probably just keep that in mind for some point in the future when the tests are better and less expensive, just for her own peace of mind.

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woe is me

I’m definitely struggling a bit right now, with the palate surgery scheduled and the count down begun.  The unfairness of what you have to go through, my sweet, just weighs on me some days more than others.

I spend a lot of time every day thinking about you, and your future.  That means I’m not as good at getting other things done in my daily life, which just adds to the life stresses and pressure, when I’m not getting the things done at work and at home that I need to.  And I spend a lot of time mentally beating myself up about that, how much I suck that I can’t seem to focus and accomplish things and that I just use you as an excuse.

I know I need to be kinder to myself.  Because the fact is, I am a different person now than I was three years ago.  It’s hard to define how I’ve changed, exactly.  I think having a child with medical challenges is an extreme parenting event.  When you become a parent, you know there are going to be changes in your priorities, in your preferences, in your behaviors.  These changes happen again, another order of magnitude of change, when you become a parent to a child with medical challenges.

I think, ultimately, I’m still grieving the loss of a “perfect” daughter.  I don’t mean to imply that I would love you more if you didn’t have medical issues – that is entirely not the case.  You love your children for who they are and what they represent – your bond with your spouse.  You have the most amazing, lovable personality, and both your dad and I love you to pieces.  But I am still working through my grief over how this syndrome is going to affect you.  You will have physical and emotional scars from the surgeries, the spinal deformations, and from just being different.  I’m still processing your lifetime of being affected by Klippel-Feil syndrome; apparently ten months has not been enough.  So, we’ll continue to learn, and grow, and stretch our hearts to accept this grief we have been given, until the grief becomes something we rarely notice anymore.