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Possible diagnosis...

Posted , 3 users are following.

lisa1959
lisa1959

Good afternoon/Evening!

I'm a 56 yr old granma with a laundry list of diagnosis' and looks like i may be adding another.  I moved to north Georgia last year and of course have all new doctors. That is one thing I miss, is my relationship with my docs down there, I could talk to them and they were so good about making sure I was covered in all ways!  

I'm hoping y'all can help me...

Last April routine lab work came back with a Ferritin level of 343.

My doctor then ordered the genetic testing.  results: Compound Heterozygous for the C282Y and H63D Mutations.   The doctor said that meant I did NOT have Hemochromatosis.  that I only have ONE marker.  I didn't read it throughly and research it myself until now... (DUMB MOVE)  I now think it says I DO have HH if I have clinical results/symptoms to go along with it. 

In November he did more routine labs... Ferritin: 739.  Total Iron: 212, Liver enzymes elevated Alk Phos,136, AST 76 and ALT 61.

He then said I should "probably" see a Hematologist.  I have an appointment this next Tuesday, the 8th.  

Since I have now re-read the genetic testing and from what this old retired nurse sees that he may be incorrect.  The good Lord KNOWS I do not want, nor NEED another diagnosis on top of Crohns DIsease, GERD, Thyroid Disease, Arthritis, Fibromyalgia...  but, if there IS ANOTHER problem.... I have to know and do something about it.  With the arthritis and Fibromyalgia many of the HH symtoms could be missed. My memory is terrible these days...

 I've had liver enzymes that go from normal to elevated from time to time.  They did a liver biopsy about 4-5 years ago and it showed "Mild, Chronic, Non-specific Liver Diease".  My docs down there said that without any other labs showing the way, that we could say that these results were caused by my 20+ year fight with Crohns Disease and we would watch it...and I'd avoid anything that could mess with my Liver.  I've done that... and now?

QUESTION:  Does this look like HH?  I KNOW you are not doctors, nurses, and are NOT making any diagnosis... I was a nurse for many years, but I was Cardiology... ya know?  I'd like to go see this Hemoltoligist armed with knowledge and not be surprized with things he may mention... 

If so... I'm not afriad of needles.. but how much does the removal of blood help?  Or is that the best thing to do?  or the Chelation I've read about? 

THANK YOU for any and all information

3 likes, 5 replies

5 Replies

  • sheryl37154
    sheryl37154 lisa1959

    Posted

    Yes, Lisa, it is HH, and they have left you to get more worse than you should be.  Drs are stupid about HH.

    Some medical profession have decided that you only have HH if you are homozygous C282Y.  Almost all of your problems could be because you have HH.  Even Crohns can go hand in hand with HH.

    Keep educating yourself and be assertive about treatment.  Print off research (and I mean medical research) to take along with you to drs to back you up.

    GERD is often caused by Helicobacter Pylori which thrives on iron, so ask for a test for that.

    Request venesections immediately, they have left you long enough without treatment.  You might start weekly for a short while, then fortnightly.

    Contact your country's HH association and talk to them, request info from them as well.  They often have resources for drs on their website, so print it off and take it with you.

    Support your HH assoc as they are the ones trying to get everyone screened before damage occurs.

     

    • lisa1959
      lisa1959 sheryl37154

      Posted

      Sheryl,

      THANK YOU for your informative response!  I feel like such an idiot right now!  After being a nurse for 15 years I KNOW I have to advocate for myself! Then I let this new doctor tell me someting without doing some research myself. Well, I'll kick myself a bit and let that bit of crud go.  I no longer work due to Crohns and Fibromyalgia, now on disability.  

      I'll get to work today and find the medical research I need to go with me to the Hematologist  Tuesday.  This group screens patients before just making appointments.  I called for an consutling appointment and they asked for lab work before giving me a time and date.  I dropped off copies and they called a couple of hours later with the time/date.  I will pray that this guy knows what he is doing, if not I'll find another one!

      I was very happy to find this group online yesterday... When I was first diagnosed with Crohns 18 years ago I found a support site that got me through some rough times. It is, in my opinon, extremely important for patients to support one another and talk about experiences. 

      Thanks again, I"ll be back to read and share... and ask questions!

      Lisa

    • haircrazydaisy
      haircrazydaisy lisa1959

      Posted

      Good luck, Lisa.  Be strong and stand your ground.  Without the strength and support from people on this site, many of us would be much worse off.  Thanks to everyone who takes the time to respond, research and share information :-)
  • sheryl37154
    sheryl37154 lisa1959

    Posted

    PS:  Transferrin Saturation % (TS%) is the most important marker for HH too.  If it is >45, it is a sure sign.

     

  • lisa1959
    lisa1959

    Posted

    Hello All!

    Well, I have seen the Hemotologist and while she is not sure I have HH, she HAS begun treatment until she confirms it. I have a "Complicated" history so she wants to get my past lab work and the pathology report from a Liver Biopsy that was done 5 or so years ago. Until then I will have weekly Phelbotomies.  I'll start another discussion with questions!  THANK YOU for your responces when I was here a few weeks ago!  Lisa

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