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Confused mother of 11 year old girl with HH

Posted , 8 users are following.

Griffalo
Griffalo

My daughter has one gene mutation for HH therefore should only be a carrier (that's what the doctors told me) however she is presenting all the symptoms and even though she has been receiving the monthly venesections her last blood tests showed her levels had raised from 114 to 184 in the space of 4 weeks when they have been coming down slowly but surely. We are waiting for more dna test results back as we have been referred to two professors in Cambridge but in the meantime has anybody been in this situation before?

3 likes, 24 replies

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  • Griffalo
    Griffalo

    Posted

    So her levels are coming back down slowly but surely...Yey! They said because she had a flu and chest infection it made them spike.

    Had an email from Cambridge hospital too that her results from the Gemini iron chip will be here by the end of April so shall keep you posted.

    • sheryl37154
      sheryl37154 Griffalo

      Posted

      Look for The Hemochromatosis Cookbook in your library or ask them to get a copy in for you for info on what foods to eat and why.

       

    • Griffalo
      Griffalo sheryl37154

      Posted

      Thanks Sheryl,

      I'm OK with she should and shouldn't be eating. I've researched and read up on this. I was just more confused about what this other gene mutation could be, but not much longer to wait.

  • megan36105
    megan36105 Griffalo

    Posted

    I've never heard of someone that young being diagnosed with HH. Every blood specialist I've seen (and I've seen 3) has told me that my future children won't have to worry about even being tested until they're 18.

    Have you made sure that she's been tested for anything other than iron overload? 

    Maybe this is what she has, I don't know as I'm not a doctor and I don't have all of the information, but I would just want a second opinion.

    • sheryl37154
      sheryl37154 megan36105

      Posted

      It is a different HFE gene to the classic haemochromatosis and very aggressive.  It is described as juvenile haemochromatosis.  I really hope Griffalo's daughter does not have it.

       

    • Griffalo
      Griffalo megan36105

      Posted

      Yes she's seen many doctors and professors in different hospitals. They have tested her for everything they can think of and have narrowed it down to juvenile HH but she only has the one faulty gene. They are testing her dna strands for any further gene mutations and we are getting the results back end of April. They've done this because they believe that having the one gene should only make her a carrier however she is presenting all the symptoms and iron overload. She is having regular venesections which are bringing her iron down however she is still having the other common symptoms that go with HH which they think is odd considering she only has the one gene.

      It's only through my persistence and the doctors passing her on to a different specialist each time they exhaust their area of expertise and testing that she has had this diagnosis. They told me that it doesn't usually present itself until adulthood so she has been very lucky.

  • valerie53807
    valerie53807 Griffalo

    Posted

    I am surprised that your daughter has even been diagnosed with HH as when my grandson went for testing his Dr told him he was too young to be tested and to come back in a couple of years ,he was about 15

    Sorry i cant help with your question, i hope you get some answers

    • Griffalo
      Griffalo valerie53807

      Posted

      Where are you from Valerie if you don't mind me asking? I have to say the doctors we have seen has taken a massive interest in my daughter. We have been passed on and it's taken a couple of years don't get me wrong but each time they have narrowed it down. She was tested for HH but it showed negative and the doctors were dumbfounded as they were sure that was it but then a friend of his told him about Juvenile HH and it turns out she has the 1 faulty gene. I guess we've been really lucky, i cannot fault the medical professionals we have come across and are still dealing with. It seems odd that your grandson was told that and my daughter is only now 11. I would insist on being tested if there is any worry from your end.

      Not to worry, thank you for your comments. Won't be too much longer before we get her results. I will keep you all updated

  • Griffalo
    Griffalo

    Posted

    So I have had my daughter's results back from her DNA strands being tested in Cambridge, and yet again we have hit a brick wall.

    She has now had all her genes tested and nothing has shown up apart from the one falty gene for juvenile HH. But as it is a recessive disease, by rights she shouldn't be presenting all these symptoms.

    Still confused, still none the wiser! Being referred back to our professor in Birmingham so won't know more until our appointment arrives.

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