Tuesday, March 6, 2018

Genetics, Pulmonology, and Labs... Oh My!!!

This post has a little bit of every thing.  Genetics. Pulmonology.  A not so fun trip to the lab.  And a much bigger update about what's going on with me (although it's not complete because a I type I'm sitting and waiting for the results of an abdominal ultrasound from this morning and hoping it gave my doctor the answers that he needed):


  1. Wow, I can relate to A LOT of what you are saying here! I've been through genetic testing with my older daughter and yeah sometimes it doesn't really answer any questions and instead gives you more. In our case it came back saying she has an X chromosome micro-duplication and there's not a lot known about it. Before that I didn't even know that chromosomes could be micro duplicated or deleted .I just thought you could have extra ones (like Trisomy 21 etc). They did more testing on her and that came back normal. They can't say for sure but they think it's why she has apraxia of speech. who knows :( She's also had adenoids removed which wasn't too bad thankfully!

    I also can MAJORLY relate to your gallbladder problem...mine has plagued me off and on over the past 16 years. I've had several ultrasounds done and the HIDA scan that you mention also. Ultrasound came back clear, HIDA scan showed low emptying but I didn't have the pain with it so the surgeon said that removing a gallbladder without stones with spasmodic pain doesn't always solve the pain. I'm so grateful he was honest b/c I didn't really want to get it removed. Anyway, I get what it's like to be afraid to eat anything! I never knew what would set it off, mine was SO random. I did do some research on it and there are some VERY preliminary studies done on fish that suggest chronic stress can negatively impair the gallbladder...I'm going to roll with that b/c it makes sense in my case lol! I lost weight with mine acting up too...the only good thing about it but it's not sustainable..I got soooo hungry! Good luck and prayers coming your way :)

  2. My brother took one of those genetic tests for your ancestry. He has some sort of gene thing that affects your liver. Not surprising then that I've had liver issues all my life.

    But yeah the ENT wanted to remove the youngest kid's tonsils because they are large. We've just never bothered. He isn't prone to infections, and he doesn't have any sleep issues that we've noticed. Basically if his tonsils are large when the relax they can block your air way and cause you to snore. Knee doesn't really snore. I just couldn't justify putting him through surgery to remove a body part that isn't affecting him as far as I can tell. I'd rather they did a sleep study first, but they don't do that. They just remove them because they are under the belief that having large tonsils affects everyone's sleep. They don't bother to check. Seems dumb to me since there are risks to surgery.


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