20 and Hemochromatosis

Oh my goodness, he and you are going through a very rough time.  Some of his symptoms do seem unusual or extreme for HH in such a young person.

Just a bit of self history, I am homozygous C282Y (very aggressive), my husband is homozygous H63D (mild really), and our son is compound heterozygous C282Y/H63D (in between).  Dr took 9 years to diagnose me even though I was having severe symptoms (no google back then) and only diagnosed when my hips broke up from avascular necrosis.  Then son tested at age 22 with a ferritin level of 774, then husband tested.

So I have been searching for answers for 27 years, joined a HH association, formed a support group, do awareness campaigns, went to a couple of conferences and have spoken to researchers from many countries.  I am familiar with their and many others work.

While most drs do not accept that iron gets into the brain there is evidence that it does.  MRIs and autopsies have proven it.  However, research with mice have not yet been able to prove it, therefore drs have not been informed and they, in general, don't bother to chase up research themselves.

It is allowed to breach the blood brain barrier to get into the hypothalamus, and from there it drops down into the pituitary gland, affecting both parts of our brain.  You need to google those to see what their jobs are.  But also via the MRIs and autopsies (too late then, isn't it) deposits have been found in other parts of the brain.  There is a scottish professor working in a Belgium University Hospital who has proven that and has written a very expensive book about it.  I have spoken to some researchers of iron in the brain in Australia too, but as I said, so far they have failed to replicate it in mice.

I also ended up with a small tumour on my pituitary gland, agreed to have been caused by iron overload.

So two things I suggest, request a referral to yet again another specialist, an endocrinologist, unless your gp or another specialist can order blood tests of pituitary gland hormones.  At the same time, request that this specialist order an MRI of the brain not just for the pituitary gland but to search for iron overload in the brain.

On the Iron Disorders Institute website, go to helpful forms, then Hemochromatosis reference charts and you will find a list of  some problems in organs caused by HH and other  information useful for ignorant drs.

Also communicate with your country's HH association for whatever help/advice they can give you.

Out of curiosity, what was your son's ferritin level at diagnosis, and what is his TS%?

I must race off for now, but feel free to ask any more questions.

Wow lynnski, you are so lucky to be over I presume to be in Britain. I am a physician in the states with HH and all I got on my genetic test was that I am homozygous C282Y.  I figured out on my own that my mother has the arthritis gene that is often tied tto the HFE gene defect and obviously passed that to me.  Here in the states HH is sort of an orphan disease and you can go to large well regarded institutions, like Johns Hopkins that Huggilynn has been referred to, and they will still be quoting medicine from the 1990's in which it was believed our arthritis was due to excess iron in our joints LOL.  I have personally visited both Cleveland Clinic and Mayo Clinic to get help with some of my HH symptoms and they are woefully uninformed.  I caution Huggilynn to do her own internet research and to also realize that not all of our problems are due to excess iron, like the arthritis.  The Rennes, France group is studying this.  BTW, they must be seriously worried about the possibility of cirrhosis in you, that Child's Pugh score was developed back when liver transplants were developed as a way of grading patients on their possiblity of surviving a transplant.  They look at 5 different things- liver enzyme levels, if you have fluid in your abdomen, if you have encephalopathy ( a brain disorder caused by severe liver inflammation) those sort of things.  A grade of A gave you a 100% chance of surviving a transplant, which is good news if you ever needed one.  Let's hope not!  Hope that helps.

Again, Huggilynn, write down each of your questions and try to research them yourself before you go in for your appointment, because they will have you see a junior doctor for the most time.  That doctor won't have any answers, but will be presenting your case to his attending doctor who will hopefully have some ideas for you.  If you can cleanly present each question to this junior doctor then he/she will be able to do the same to the very rushed senior doctor and you will get more ideas and answers.  Go point by point, question by question, don't jump all over.  You need to be really organized to have these appointments at these large institutions go well at all.  Otherwise they just throw their arms up, order a bunch of tests and then give up. I have been there.

I am in the UK but my brother, who has two copies of the C282y gene, lives in North Carolina and is treated very well.  I don't know if you could get your son's consultant to talk to the doctors in another state?  My brother wasn't diagnosed until he was in his 40s but had symptoms from a very early age - eventually he was diagnosed when he lived in the US and insurance tests found he had liver problems.  My brother also has the thick, black blood that you mention.  His veins often won't allow blood to be taken.  He now has to have Saline solution intravenously whilst blood is taken - this alleviates the problem.  As a child, he would heal very quickly and his blood clotted quickly - we thought it was because of high factor 8 but it was clearly something to do with HH.

I have one C282y and one H63d gene so am very concerned about my son.  He will definitely inherit one of my genes.  Did you realise that you can have symptoms even if you only have one gene?  This is something that I have discovered since being diagnosed and researching HH.

I hope that things improve for your son and that he finally gets some good treatment. As a mother, I know how desperate you must be feeling.

Good luck with it all xx