20 and Hemochromatosis

Allergies, blood and immune system
1

Hi. I do not have hemochromatosis. I have one copy of the c282y gene. Unfortunately my son has two copies of the c282y gene. He is 20 years old and by some miracle a psychiatrist thought to have him tested for iron levels when his ADHD medicine stopped working. The geneticist told us that we are very lucky to have found out that he has HH early. Ironically this was a horrible diagnosis cause people with HH don't normally show signs til they are in their late 30s or 40s.

All of the doctors we took him to over looked all the blood work signs because, outside of the stomach camps and leg pains, he was the perfect profile for an All American athlete. This was last year. Back in July is when all the crazy tests started. He was diagnosed in September without a doubt of having hemochromatosis with two copies of the c282y gene. He started getting "Bleds Out" right away. Since then his transferrin and ferritin levels have significantly dropped however all of his other blood work has outrageously risen. His blood is ungodly thick, he blows out veins, breaks needles, and busts blood bags during draws. His blood coagulates faster than they can withdraw it.

Every now and then back in September, October, and November my son visits what I call "Crazy Town" (for lack of a better description). He would get very agitated, irritated, angry, and sometimes lose track of days. But he would go get a phlebotomy and be just fine. At this point he was going for draws only once a month. Then they went to once a week. Now he goes every other week.

Here we are, a year later, and we find out though a routine well check up, that his triglycerides (811), LFL, HDL, and blood sugars have sky rocketed. His blood is pitch black. The lab at the Mayo Clinic says that his blood work can not assess due to a metabolic syndrome disorder.

We r now seeing a cardiologist, hematologist, gastroenterologist, and primary care physician none of which have any experience with HH or have ever even heard of HH . We live in the Mid West (Kansas). Each doctor says that every problem or symptom is not related to HH or that is not their specialty. Some have even said none of his symptoms are related to HH cause HH is only iron over load and just needs to be Bled to get rid of iron in his blood. The Mayo Clinic had refered us to John Hopkins in Arlington Virginia.

When I talked to them they said that most certainly all those symptoms are related to HH and has probably caused other issues as well. We are now at a point of making a medical profile for him and possibly making an extremely long and expensive to Virginia from Kansas just to get some answers and the right treatment for my son.

So... my question is do any of you have other symptoms besides fatigue and cramps? And who and where do you receive treatment?

The nurses at the Cancer Center say they see his "Crazy Town" symptoms all the time. Some times it takes an act of God to get him to his appointment and treatments. He is only 20 and believes he can take on the world...

2

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.

 

3

I had to come back on this.  I forgot to tell you I ended up with the problem of thick, black blood, hard to venesect.  I didn't break needles - the needles are too thick for that so I don't know what your son's phlebotomists are using.  But I would come away with 4 extra holes in me more than 2 hours later because I would insist they keep going to get this toxic stuff out of me.

So without getting any medical assistance on this (my hemotologist kept blaming the phlebotomists), I decided to start taking 100mg aspirin per day.  What a relief.  Blood was back to flowing well.  Not only that I felt like the aspirin cleared out cells clogged with iron particles, removing most of the body pain/inflammation I was feeling.

Prof Robert Crichton is the Scottish Professor at a Belgium university hospital researching iron overload in the brain.  Also researchers in Rennes France are doing a lot of HH work in general, and manage to get funding.  They seem to take HH more seriously over there.  I have had a couple of conversations with Prof Pierre Brissot and heard him speak at a conference.

I googled "ADHD and iron overload".  There seems to be a belief that people with ADHD are short on iron.  Was your son given iron supplements?  Did his medication assist/promote the uptake of iron into the brain?

Good news is, if he is found to have pituitary gland damage or even iron deposits in the brain there is something that can treat it.  I was given Cabergoline for my pit gland tumour, which shrunk it and returned my hormones to normal (magic, it was), but also I have found through lots of reading that Cabergoline is an iron chelator for the brain.

Trouble is, as soon as I try to reduce the Carbergoline, my hormonal issues return.  My endocrinologist says there is no reason why I cannot keep taking it forever.

My husband is soon to be tested for the same problem of hormonal issues, and the medication for it will be Cabergoline.  I am looking forward to it.  Your son may be having hormonal issues he does not want to talk about.

Vit B12 deficiency causes eventually neurogical problems.  My husband was found to be vit B12 deficient after years of depression, fatigue, weakness, foggy brain, after treatment for Hodgkin's Lymphoma.  He started off with weekly injections.  The change in him after 2 injections was another miracle.  I had been giving him Vit B12 in tablet form but some of us just cannot absorb B12 in that form.  It has to be via enzymes.

I was found to be deficient in vit D3 (even though we live in the tropics), and vit D3 in tablet form was not helping.  I was put onto a practioner's supplement of vit D3 forte drops.  My blood test increased immediately.

I feel for you about your son as mine is too casual about his hemochromatosis treatment, and has now developed more health issues.  Mum does not know anything, does she?

Good luck with it

4

Sheryl you really know your stuff fair play to you, great information there.

5

Thank you - I hope it helps Huggilynn's son.

 

6

Wow Sheryl , don't know what this site would do without you. First I receive a letter saying I am homozygous for Cys282Tyr mutation, one from each parent (unknown to parents)& that this diseases is responsible for pathogical accumilation of iron, led to irreversible cirrhosis in the liver. That was from my haematologist. He told me unfortunately my mutants were the aggressive sort!! 

Then from my other GAstro  Enterologist consultNt my report says

diagnosis 1 Genetic H Homozygous for HFE( 845G 2A and C282T)

diag 2. Likely cirrhosis

im having surveillance on liver & endoscopy(clear) and told I'm Child'sPugh A according to my blood tests. What does that mean. Also I cannot find my genetic findings anywhere.?

i am 60 had 8 weekly blood VS and now my HG is low 120 so that needs to be checked. My stats were F. 1975 & fs 94% think they've dropped to 1700 and 83% after the 4th VS and just been retested  the other day, results not back yet!

Any ideas Sheryl as you know more than most of the doctors 

7

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.

8

My friend lives in Winter Park, Florida and she says there is a HH uni right on the doorstep where she used to live a few miles away near Lake Pickett in Orange County,FL coz she was saying what a shame I didn't go there years  ago when I was a frequent traveller.. thanks for your explanations though! 

9

I thought the C282T was a typo thinking you meant C282Y but I have found reference to phenotype C282T in some medical research studies.  At a cursory read I don't really understand why they express it differently.  The researchers look like they are Spanish or Portuguese but that should not matter.

I am wondering if it is a mutation of the HFE C282Y related to a liver disease.  Maybe someone else has come across it.

 

10

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

11

Hi all. Going through figuring out what is going on with my husband and his ferritin of 4030!!!!! We do have a gastroenterologist and have a follow up appt in 2 weeks to discuss blood test results and plan a course of action. Lynnsk1 I wonder if you still come here..I CANNOT believe I found this site...we live less than 1/2 a mile from Lake Pickett Road in Orlando!!!!! So I'm SO curious to know how to find the lab location you mentioned your friend in Florida went to. I am scared to death of what we are going to find out and googling often times brings up the worst scenario...but we are trying to be proactive as we "wait." This site is a godsend. Best regards, Susan

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I will try to find out for you if I can get in touch with my friend. I actually think they do & know more in the states than here in the uk. I’ll let you know. 

13

tel:1-888-655-IRON This is a free number for you. Also there is American Hemochrom society page on Facebook. Hope it helps

14

http://www.americanhs.org/

4075294488 I think that’s the number. It’s in Lake Mary but friend went on to mayo clinic to get another diagnose for NASH

15

im not sure why my info was not posted but the hemo uni is at Lake Mary, maybe they will allow my post when it has been checked.