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Juvenile Hemochromatosis

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Griffalo
Griffalo

My 11 year old daughter has recently been diagnosed with juvenile hemochromatosis. We have been waiting on her gene test for quite a few months due to the most common tests not showing anything, we have now been told she is carrying one of the genes for this disease but it wouldn't be the only reason she has iron overload. Has anyone else been in this position or know of any other reason other than hemochromatosis that could cause iron overload?. We are not due to see the doctor until October to go over her results in detail and she is referring her case to two professors in Cambridge as yet again we seem to have hit a brick wall.

Thank you in advance

1 like, 9 replies

9 Replies

  • haircrazydaisy
    haircrazydaisy Griffalo

    Posted

    Hi Griffalo,

    There is clearly so much about this disorder that is still a mystery to the medical profession.  I have an 8 year old son and have been told that there is no way that he will develop any symptoms until he is in his 40s if he has inherited my genes.  Your daughter clearly proves that theory wrong.  

    Do you know which gene she is carrying?  From what I've read so far, there seem to be a number of different types of haemochromatosis.  Is this one of the hereditary forms?  

    I wish you all the very best at this worrying time - please let us know how your daughter gets on in October.

    Hx

     

  • sheryl37154
    sheryl37154 Griffalo

    Posted

    Juvenile haemochromatosis has a different gene to the classic hereditary haemochromatosis.  I have not investigated it a lot so I do not know much about it.  Your dr might be trying to equate it to the normal HH.

    If you have not done already, google juvenile hemochromatosis to get the facts on it for yourself.  It is a very dangerous condition for the child and it is important for the drs to treat immediately and not wait for genetic results or wait for months.  Iron overload is iron overload no matter what the cause in the immediate situation for a child.  Insist on fast treatment.

    An excerpt from the Iron Disorders Institute re juvenile hemochromatosis:

    Hemochromatosis in children is generally rare, but when it does occur, the consequences are more severe. Hereditary hemochromatosis and juvenile hemochromatosis should not be confused with iron overload in children with thalassemia, sickle cell disease or other more rare diseases or therapies that result in too much iron in the body. For more information, read about Iron-Out-of-Balance in children." 

    Arm yourself with as much info as you can and insist on an emergency appointment asap.

     

  • Griffalo
    Griffalo

    Posted

    Thank you both for your reply, I didn't mention that my daughter has been undergoing treatment for the last couple of months in the form of venesections. As well as having raised liver enzymes, and high iron she suffers from vomiting, stomach pain and a painful swollen knee. Her liver has shown slight damage from an mri scan but nothing too worrying. I am pretty clued up on hemochromatosis, I've read everything available and educated myself on the disease for the sake of my daughter. I do not know as of yet what gene is affected or if it is hereditary I'm expecting to be told this when we go up in October, It was only written in the letter that she is a carrier of one of the common genes but it's unusual for this gene on its own to be the cause of her iron overload.

    So just when I thought we'd finally come to a diagnosis after 2 years of her being ill and passed from one doctor to another after each one came to a brick wall we are now being referred again.

    • sheryl37154
      sheryl37154 Griffalo

      Posted

      Thank goodness for that.  It did seem that you did not know much and nothing was happening.  Poor little girl, kids should not have to suffer like that.

      There is a post on the haemochromatosis forum recently by a young man who has juvenile haemochromatosis.  Perhaps you can communicate with him.  He might have some ideas.

      Good luck.

       

    • sheryl37154
      sheryl37154 Griffalo

      Posted

      I found one on page 3, that is going backwards.  A year ago.  He/she mentions a couple of good contacts.

       

  • Golak
    Golak Griffalo

    Posted

    Hi Griffalo,

    How is your daughter doing? I assume that she has been continuing with her phlebotomist?!

    My husband suffers from hemochromatosis and now our daughter has a ferritin of 120 :-(

    I am worried sick and so grateful to have read your experience.

    Would you tell me how high your daughter's ferritin was at the time of diagnosis? And how the results of the genetic testing came out?

    I hope that you're already into a routine and your daughter feels well.

    • Griffalo
      Griffalo Golak

      Posted

      Ah I'm so sorry to hear about your daughter. It's such a worrying time as a parent. It was the not knowing that was the hardest thing for us and just when we thought we were getting somewhere we hit a massive brick wall again. It was nearly 400 when diagnosed and took about a year to get her down to under 50.

      We've seen quite a few doctors and professors. From our local area to Birmingham and Cambridge in the UK. All the regular testing was done with no avail so they passed us onto two specialists in Cambridge who put her blood into the Gemini chip dna wheel. After months of looking at every strand in her dna they came up with nothing bar the 1 faulty gene for juvenile HH.

      Everyone is at a loss. however were continuing her venesections every 3 months hoping that somewhere down the line we'll have answers.

      Has your daughter been diagnosed with HH?

    • Golak
      Golak Griffalo

      Posted

      Hi Griffalo,

      My daughter has not been diagnosed with HH. We just did a screening ferritin test, considering the fact that her dad has HH. Her ferritin came back as 110, still within the normal range but towards the higher limit.

      She is only 9 and growing, so even thinking of possibility of venesections is hard. My husband has been going through multiple phlebotomies for the past year. My husband was also negative for the HFE genes. So I'm not sure how we are going to be following this further. Like you said it is very worrying !!

      All the best to you and your daughter,

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