Genetic Testing & DNA


Natalie has had LOTS of genetic testing.  There’s never been a diagnosis that encompasses more than one or two of her … issues. I remember her old neurologist – back when she had seizures – said he was sure she had a SYNDROME but it might not have been discovered yet.  He said, thinking I’d be proud, “It will probably be called ‘The Natalie Syndrome’ … that doesn’t excite me so much. Plus which, I doubt it. No-one even tries to figure out what her core issue (if there is one) might be.  The geneticist wants us to come back every 9 months or so to see what the latest tests are and whether or not they can discover something – ANYTHING – that could give us information. Why, you ask?

Well, one advantage of determining a genetic basis for Nat’s diverse “conditions” is knowing what the future might hold. Being prepared, knowing what to steer clear of, what to allow or not. Planning.  Certainly if we had known about the malformation of her arteries near her spinal cord it would have averted the disaster of 2007 and the long process of discovery leading to her surgery in 2008. BUT that medical nightmare was just a fluke! It did not have a genetic basis – as far as anyone can tell.  Ack…  tomato tomahto… it definitely has come down to “what difference does it make today” and the answer to that is NONE.

I don’t really ever even think about what the cause, diagnosis etc is of Natalie Hope.  I guess I’ve given up on thinking it will be found so I don’t worry about it. Plus which maybe I don’t really want to know?

But what I do wonder is, is this child really mine?  Maybe she was switched at the hospital. Wait. She wasn’t born at a hospital!!! She was born at home – yes ON PURPOSE.  So, there couldn’t have been a switch of babies. Hmmm…. Then how to account for this:

How can any child of mine sleep with her feet uncovered? I get body shivers just LOOKING at uncovered feet!! Even with her trusty zebra seems disturbed – watching over her sweet little feet so closely, as though they need protection of some kind.

And yes, I’ve covered them. Many times. And yes, she just stretches her legs out until she finds fresh air for her feet. *sigh* I doubt there is any genetic testing that can explain this to me, the mother of all sock-wearers!!!  That’s okay. She’s allowed to be just as different as she wants to be! I love her just the way she is. Of course. Genetic testing, answers, or not. And despite the cold feet, there is no need for DNA testing. Anyone who knows her and knows me can tell you we are related.

How about you – is it hard living with uncertainty? Or if you know your child’s diagnosis, is it hard living with that knowledge? How do you cope? What do you notice about your child that fills your heart and makes all of “this” easier to bear?

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3 thoughts on “Genetic Testing & DNA

  1. I feel like I tend to think more about my daughter’s, with issues, future than my sons. This is not a path to go down as my wise friend tells me. Ad I usually don’t however in the midst of aLLLL the therapies, augmentative eval., wheelchair ordering and stander ordering delays I do. I guess I talk to people a lot. I feel OK then start to almost break down as I’m once again giving medical history. Thank GOD she still has her belly laugh. Mine has regressed a LOT after LOTS of hard work to gain. That I can only relate to a car accident or getting ones legs shot off in a war. Her belly laugh I usually hear at least a couple of times a day keeps me going. That and joking with folks about drinking and jumping out windows. But really I know I need to lean on God when I get down. As far as her unknown, undiagnosed future goes my wise friend says. You are never given a guarantee that your child, any of them, won’t be hit by a bus tomorrow. I guess it could be morbid to some, but to me it says, suck it up buttercup!

    • Thanks for visiting, Lin… I agree with the laughter thing. Natalie’s smile and laugh can get me through a lot! There is a lot of stored up grief in my soul also – when we see our kids go through so much, for so long, how can tears not leak out when we talk about it…. and I also agree about no guarantees. I love Lori Bergman’s quote: “You’ve developed the strength of a draft horse while holding onto the delicacy of a daffodil … you are the mother, advocate and protector of a child with a disability.” -Lori Borgman

      Lynn

  2. Wow, I’m so glad I found your blog! I have a 12 month old (he’s a twin, they were born at home and on purpose) that has lots of issues (probably a syndrome, possibly a rare one called Coffin Siris, waiting for the results and like you I don’t really care about a diagnoses either). He has a G-tube, trache and is on the vent at night. I was looking for whole food blenderized recipes for him (I don’t really like the ones that the Dr. and nutritionist gave me, why would I give him sugar, this is the opportunity to give him everything is body needs especially since taste is not an issue). So happy to have found your blog!! I have started a support group through fb https://www.facebook.com/groups/1585717121654201/ for parents with medical needs children. I have learned that this is a hard road and my friends that have stood by my side no longer seem to be able to relate to me anymore so they just don’t. I feel like I need to try and offer some sort of support for others who have felt friendless and abandoned.

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