Friday, March 9, 2012

Genetic Gumbo

No doctor appointment quite prepares you for an appointment with a Geneticist (Dr. M). This doctor is our final hope, our last stop, the end of the line in terms of our search for a cause to Rae's Hypotonia. They don't just ask you the usual questions...nope...they want as close to accurate accounting of your family medical history. No detail is too small and no family member is too distant. If you even have an inclining that your third cousin twice removed on your mother's father's side of the family may have had something remotely similar to what they believe your child has they WANT to know. It's exhausting!

Genetic Gumbo Recipe:
  • Diabetes - we're stubborn and still eat as we please...most of the time.
  • Heart Disease - double dose.
  • Bad Knees - both my Great Uncle and Dad are bionic and trigger metal detectors.
  • High Blood Pressure - some of this is self inflicted...what can I say we're wound a little tight.
  • Strokes - "Anymore, anymore...damn it!" was about all my Great Aunt could say after hers...well that and singing hymns, go figure.
  • Hip Malformation - can be painful and makes me and my Dad walk funny at times.
  • Penicillin Allergies - lost an Uncle because of this allergy.
  • Arthritis - are you eating celery or were those your knees making that crunching sound.
  • Gall Bladder Issues - that's right we're a gall-less family.
  • Kidney Issues - stones...enough said.
  • Fibromyalgia - only one person to my knowledge.
  • Dementia/Alzheimer's - this is why I journal because I'm sure I will forget everything at some point.
  • Miscarriages - none for me thankfully, but she asked about family history so in the pot it goes.
  • Seizures/Epilepsy - distant, but apparently relative.
  • Psoriasis - which she thinks Rae has on her eyebrows and maybe scalp (yippie).
  • Ankylosing Spondylitis - an obscure weird genetic spinal thing where the bones slowly fuse. together and you can't move. In my Dad's case it's his neck.
  • Macular Degeneration - eventually causes blindness (I wasn't aware of this at the appointment).
Simmer for 20-30 years and WALA! You have a member of my family.
I know I missed a few ingredients, like Cancer (at least four cases), but it honestly slipped my mind (How does that happen?) and I keep trying to reach out to other family members to find out if there is something we all have dealt with, but don't realize it as a possible genetic thing. Dr. M also asked about my pregnancy and delivery. Which was well for lack of a better word...boring. Don't get me wrong the pregnancy was exciting and delivery (via C-section) was a thrill since our wait for Rae was over, but it was a very uneventful pregnancy. Hallelujah!

After playing 50 questions, it was time for her to give Rae a physical assessment, which was equally as thorough as her questions. She checked Rae's reflexes, her palms, her eyes, her ears, the bottom of her feet...basically every teeny square inch was inspected. Dr. M noticed that Rae responded to some simple commands like, "Do you want the light thing-a-ma-bob? Reach for it..." and of course she did. Rae already has listening to others down better than listening to her Mother. I can't even seem to get her raise her arm(s) (I'll settle for one) when she wants to be picked up.

Once the exam was completed, Dr. M went over how she would like to proceed...with, you guessed it, more testing. What a surprise. She informed us of  Pompe disease (there are so, so many possibilities) that she wanted to test for and apparently Duke University was doing a free study (Yippie! No bill!!). We took our lab orders and went for yet another blood draw. This time I made her Dad hold her because, honestly, I was really tired of always being the "bad" guy when it came to the not so fun stuff. Much to my surprise, dismay, irritation, and thankfulness Rae didn't even react to the sting of the needle. Grrrr! Don't get me wrong, I am happy she didn't have an emotional meltdown, but of course she didn't even make a peep when her Dad was the one holding her arm while it's being poked.

There's no crying in the lab...
Just one more...

All done!
Bandaged and no worse for wear, we strapped Rae into her stroller, made our way to the parking lot, loaded up and headed home (after grabbing lunch at Firehouse we were starving!). It felt like we were there all day, but it was only a couple of hours. Now the real waiting begins...we don't get all of the results until April 26th!


  1. Seriously! You are right about the geneticist. It's crazy. Did you see Debbie? She's the counselor that works with Dr. A. Not sure if she works with Dr. M. also. Sorry for the poke, but glad it didn't seem to phase her. Just saw you FB post about the seizures. :( So sorry, but maybe this is the key to getting answers.

    1. We saw Kimberly, she's Dr. M's counselor. She was pleasant. Dr. M is a little curt, but that's okay I'd rather have the band-aid ripped off.