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Just Diagnosed.....need advice

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michelle61612
michelle61612

My 17 year old daughter was just diagnosed with hemochromatosis & has homozygous gene mutation. She has been feeling unwell for a year now with digestive issues, extreme abdominal pain & nausea. Our previous doctors just kept telling us it was IBS and recommended she reduce stress and go to a FODMAP diet. We have recently moved and got a new doctor. Just found out 2 days ago that it is HH and have been referred to a hematologist. We can't get into the hematologist for 3 weeks. She feels extremely nauseous and has been throwing up each morning, has extreme stomach pain, very lethargic and isn't eating anything. How do I know if her iron levels are toxic and need to get her to an emergency room while we wait to see the hematologist. Does anyone know specific signs or symptoms I should watch for? I don't even know what level of iron is considered very high. Her iron level was 169 about 2 weeks ago. I hope to hear from some of you soon and appreciate any input/advice you can give.

0 likes, 5 replies

5 Replies

  • ruth51315
    ruth51315 michelle61612

    Posted

    Hi Michelle,  I am so sorry for your daughter.  Couldn't your doctor just do a blood test before you see the haematologist?  You need to ask for not just iron, but percentage saturation, and ferritin as well.  (Though inflammation can cause raised ferritin.)

    Then, at least you would know whether iron is in the frame at all or could rule it out before you see the specialist.

    Good luck.

    • michelle61612
      michelle61612 ruth51315

      Posted

      Thank you Ruth, this is good advice. I will get on that today. I am freaking out the more I read about this disease. I woke up this morning with absolute certainty that this is what her dad had and it killed him at age 31. He was diagnosed with Stage IV colon cancer and they said it had spread to his liver which was peppered with tumors. The thing I always thought weird is that docs told me then that he didn't have any polyps inside the colon and they thought the cancer started on the outside of the colon adjacent to the liver. He was always healthy and never went to the doctor until he started having stomach pain and ended up with terminal cancer. What if he truly had undiagnosed HH that caused the cancer? His cancer was very aggressive and was gone within 7 weeks of diagnosis. I am panicked and feel we don't have 3 weeks to wait to see the specialist.

  • zach76568
    zach76568 michelle61612

    Posted

    First thing is that finding out that young is awesome.  Most don’t.  She is young enough that iron has not trashed body.  Let the doctors do their thing, but make your voice be heard throughout.   You have to be your own advocate or hers.  I am no doctor, but I would guess thi

    s is not related to her hh.  But they found an underlined issue which is great, because it is a disease that can easily be handled!

  • sheryl37154
    sheryl37154 michelle61612

    Posted

    Do you mean your daughter's ferritin level is 169?  If so, it is not much higher than the reference range which is about 120 for a menstruating female.

    If this is the case, her level is not toxic.  Whether your daughter's issues are related to HH or not, she obviously needs a diagnosis for what is really going on and treatment - just venesections are not going to make these issues go away.  There is something else going on, and she should not be suffering for so long.  Ask for 2nd, 3rd opinions or take her to emergency to get some real treatment.

    BTW, if your daughter is homozygous, then you carry at least one HFE gene too.  Homozygosity comes from both parents.

    It would help if you told us what gene she is homozygous for, her TS%, her serum iron, as well as her ferritin level.  Has she had liver function tests, thyroid, etc?  These are generally tested when one is found to have haemochromatosis.

    Please let us know how she goes.

     

  • miller.jones
    miller.jones michelle61612

    Posted

    Did you try FODMAP diet? like any diet it takes time to notice difference.

    I personally do not recommend that one any one based on experience I always suggest low carb diets like Keto I have found to be far better and if done correctly not as restricted as FODMAP.

    Her numbers look fine children do tend to get away with iron overload due to the rate that they grow are you sure her genes are active?

    Might sound not very nice but are you sure she may not be pregnant

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