Username or Email Address
Do you already have an account?
Forgot your password?
  • Log in or Sign up

    VWVortex


    Results 1 to 10 of 10

    Thread: Genetics

    1. Member eluwak's Avatar
      Join Date
      Mar 18th, 2002
      Location
      LF, odnalrO
      Posts
      2,318
      Vehicles
      '11 Prius, '13 Rav4, '98 C2500 454 Burp
      08-23-2012 02:14 AM #1
      So my wife has been been overly fatigued the last couple of years. She's been tested for all sorts of stuff from narc to sleep apnea. In the end they just attributed it to her being overweight. That combined with being threatened with knee replacement drove her to have weight loss sugery (vertical gastric sleve) earlier this year. After that her gall bladder went out of whack and that had to go too. Shortly after her gall bladder surgery she started getting numbness and weakness in her legs. At first they thought it might be a vitamin deficiency, then spinal injury during surgery, then thyroid, and now something neuro. We saw the neuro doc three weeks back and he shotgunned the tests to try and rule out whatever he could because she didn't fit the mold for anything yet.

      Yesterday we saw the doc again to get results and have her nerve conduction study and EMG. Everything up to yesterday indicated normal, but her nerve conduction study showed significant loss in her sensory nerves for her legs. The EMG indicated that her muscles are in the process of dying. Throwing all of these various symptoms together he came up with a guess as to what this problem is, and ordered another test to confirm. He believes it is something called Adrenomyeloneuropathy (AMN), a presentation of Adrenoleukodystrophy (ALD). If these last rounds of tests confirm it they he is shipping us to Vanderbilt to get a 2nd opinion (otherwise we go to the Mayo Clinic in MN).

      It wasn't until we got home in the afternoon that we had a chance to look this up. Apparently it's a genetic disorder that get's passed down directly in most cases. It's incredibly rare, and usually affects males. Boys under 10 have a 30-35% chance of developing the cerebral version and is often terminal... We have two boys ages 4 and 6, and I am freaking out. If this is confirmed the best case scenario is that my wife ends up in a cane or wheelchair in the next 10 years, and the boys both got my X chromosome sequence thing. The worst case is that all three have it and progress to cerebral, which could turn my family of four into a family of one in the next 10 years.

      This is also sometimes misdiagnosed as MS, which is what we were thinking this was going to be. Her aunt was diagnosed with MS about 10 years ago, and we're beginning to wonder if she may have this instead.

      This whole day I was a hearbeat away from a total breakdown

      Has anyone here heard of and/or have any experience with this?

      TL;DR: Genetics suck
      <insert comment here>

    2. Member
      Join Date
      Dec 17th, 2007
      Location
      Littleton, CO
      Posts
      6,721
      08-23-2012 10:31 AM #2
      I'm sorry to hear this, but I will say that sometimes genetics are fantastic.

    3. Senior Member FlashRedGLS1.8T's Avatar
      Join Date
      Apr 17th, 2001
      Location
      Ohio
      Posts
      21,156
      08-23-2012 10:44 AM #3

    4. Member sakigt's Avatar
      Join Date
      Sep 29th, 2006
      Location
      South GA (FL)
      Posts
      2,812
      Vehicles
      2012 Mitsu Evo GSR (his) & 2003 PT GT (mine)
      08-23-2012 01:40 PM #4
      Im not sure what to say except Im sorry.

      My husband was diagnosed with non Hodgkins Lymphoma a few years ago. He beat it but of course with any "blood" disease were still in the window of reoccurance. We had our son (from frozen sperm before treatments...) and its always in the back of his mind that he could have passed down the chance of getting cancer to his son (although they believe Lymphoma probably has viral causes). And of course in the back of MY mind is his cancer could come back anytime and check him out, changing my family dynamics.

      Youre still in freak-out-mode, which is entirely ok to be in. Take as long as you need. And dont read the internet forums on these things. Like I told my husband when he was first diagnosed....people dont join those forums to talk about how awesome everything is going. They join to vent.

      Drastic changes in health definitely changes your perspective on things...

    5. Member
      Join Date
      Dec 17th, 2007
      Location
      Littleton, CO
      Posts
      6,721
      08-23-2012 05:02 PM #5
      Quote Originally Posted by sakigt View Post
      Drastic changes in health definitely changes your perspective on things...
      As someone who comes from a line of healthy people and never having anything myself, I can honestly say that a health change scares the living crap out of me. It's the main reason I am such a freak about annual checkups and constant review of my diet/workout/life.

    6. Member eluwak's Avatar
      Join Date
      Mar 18th, 2002
      Location
      LF, odnalrO
      Posts
      2,318
      Vehicles
      '11 Prius, '13 Rav4, '98 C2500 454 Burp
      08-23-2012 09:27 PM #6
      Yeah, I'm definitely still in freak out mode. What's worse is that we won't get the next round of results for another month. I kinda wish he didn't tell us what he thought it was.
      <insert comment here>

    7. Member sakigt's Avatar
      Join Date
      Sep 29th, 2006
      Location
      South GA (FL)
      Posts
      2,812
      Vehicles
      2012 Mitsu Evo GSR (his) & 2003 PT GT (mine)
      08-24-2012 06:24 PM #7
      Quote Originally Posted by eluwak View Post
      Yeah, I'm definitely still in freak out mode. What's worse is that we won't get the next round of results for another month. I kinda wish he didn't tell us what he thought it was.
      We had the same problem. Called us on the Friday before the 3 day Labor Day weekend holiday in 2010. You have cancer! Call your Oncologist (lol wut...we have an oncologist?!) on Tuesday to make an appt. Then we made the appt, had to get the PET scan to get it staged, etc etc. Fail.

      You kind of just live in a fog for a while. People wont get it, will say the wrong things, but try not to let it get to you. Its kind of "it is what it is" kind of thing. Didnt want many people to know what was going on b/c even WE didnt know what was going on....so we called his mom, my mom and my friend who had battled cancer 3x and that was it. It was just easier for us.

      We went about our normal lives, watched comedies, joked about it, ate whatever we wanted, walked the dog more. Maybe try and do the same?

    8. Member eluwak's Avatar
      Join Date
      Mar 18th, 2002
      Location
      LF, odnalrO
      Posts
      2,318
      Vehicles
      '11 Prius, '13 Rav4, '98 C2500 454 Burp
      09-21-2012 02:15 AM #8
      We'll tomorrow's the day we find out most of the results. The main one we want to see if the very long chain fatty acids are elevated which would tell us that it's ALD. She also had some testing for proper function of the adrenal gland, and a LP that leaked needing a blood patch to seal. The big pain though was a muscle biopsy from her leg which was a bit more involved than we had expected (it took her almost a week to walk again without pain meds). Unfortunately the pathology for the biopsy won't be ready yet.

      Needless to say we've had constant reminders this whole time about what's going on. We went on a trip over Labor day weekend where we made a rule that we wouldn't talk about this the entire weekend, and for once in a long time we were able to just enjoy ourselves.

      For anyone who's interested in what ALD is there's a movie about a boy who's parents discovered the only known way to help delay the progression both called Lorenzo's Oil. We watched it the other night and it was tough to watch at points knowing this could happen to us (apparently the oil isn't always effective).

      We just want to know at this point. So tired of waiting.
      <insert comment here>

    9. Member sakigt's Avatar
      Join Date
      Sep 29th, 2006
      Location
      South GA (FL)
      Posts
      2,812
      Vehicles
      2012 Mitsu Evo GSR (his) & 2003 PT GT (mine)
      09-23-2012 10:42 AM #9
      I remember watching that movie when I was 19ish and being disturbed. Cant imagine watching it now that Im a mom.

      Still havent watched 50/50, so youre braver than we are.

    10. Member eluwak's Avatar
      Join Date
      Mar 18th, 2002
      Location
      LF, odnalrO
      Posts
      2,318
      Vehicles
      '11 Prius, '13 Rav4, '98 C2500 454 Burp
      09-23-2012 10:07 PM #10
      Well we're heading to Mayo. The doc still thinks it's ALD, but the usual test came back normal which happens in 15% of women only showing mild symtoms. He also indicated that it would be a good idea to go ahead and test our oldest who's onset of ADHD and Bipolar traits could possibly be linked with ALD, and if so it needs to be caught as quickly as possible.

      So more waiting for her, and talking with a pediatric neuro for him
      <insert comment here>

    Posting Permissions

    • You may not post new threads
    • You may not post replies
    • You may not post attachments
    • You may not edit your posts
    •