Best friend with hemochromatosis - Need support!

Alex, Welcome to the forum.

I was sorry to hear about your young friend who is so ill with hemachromatosis.

While our forum has members with many types of liver disease, hemachromatosis is one of the rarer ones. At the top of this section there is a SEARCH feature. Put that word in and the posts over the years will be sorted with all the ones with hemachromatosis in the subject line.

We can ask one of the moderators to change the title of your post, so that that hema....sis is in the title, thus getting more folks with appropriate background to find it and reply.

While my partner has liver disease, cirrhosis/Hep C/and is a liver cancer survivor and a transplant recipient...he had a scare with hemachromatosis along the way. His iron counts were off the charts and they talked about the treatment offered to your friend...periodic phlebotomy to get blood out and reduce the iron ratio in his blood.

Fortunately for Mike, his high iron counts were an anomaly and his counts returned to normal in a short time.

He has had plenty of other problems to deal with liver-wise, so that was a relief. Maybe there is a chance your friend's hemachromatosis could resolve spontaneously as well (?).

We did a lot of research during this period and found that Hemachromatosis can be genetic or not. We had all the children in Mike's line tested for the gene, thinking he DID have it and wanted them to know. One of the grandchildren is a carrier, but will not have the active disease. And Mike does not, so it is from another gene contributor likely from his own father's family.

It is not a gene that is ordinarily tested for, so this child would likely never have known he carried the gene but for this research.

During this period, a friend of ours disclosed that the gene was carried in his family and he has NEVER used alcohol for that reason...becasue he knows he was a ticking time bomb for his whole life (he is 65 now).

The father died of a hemachromatosis side effect...an esophageal bleed. Thus our friend has been on meds to reduce portal hypertension for his whole life also. Is your friend on meds to keep the pressure down in her portal vein?

It was explained to us that bleeding was the death to avoid, where the pressure backed up in that vein and burst vessels in the throat, stomach or bowel. Any bleed that does not resolve quickly (like a bloody nose or from the bowel, is an automatic 911 call...get her to an ER FAST.

Since our friend has kept away from alcohol, salt and red meat, he has lived a pretty long time with the diagnosis. He has diabetes and some kidney problems that he regulates with meds.

Any liver disease can be life threatening. You can get kidney dialysis, but there is no liver dialysis, there is only transplantation. And you have to be the most sick in your blood group AND well enough to endure the drastic surgery.

I hope that the center where your friend is being treated can find a way to return her to good enough health to reconsider the transplant.

Let us hear from you as this saga unfolds. We are here to offer support...we are a group of patients, caregivers, family and loved ones who are dealing with the effects of liver disease.

Best,

Mama Lama aka Carol

Post Edited (MamaLama) : 4/29/2012 7:01:33 AM (GMT-6)

Good Morning!  A few things about hemochromatosis,  it may be inherited from your friends family.  My husband was recently diagnosised with this version of the disorder.  After asking a few questions to some family members, we found out that his one uncle also has this.  My husbands grandmother died 7 years ago and no one ever really wanted to look into why she died, we are pretty sure it was related to hemochromatosis at this point.  My husband's grandfather was recently checked and found be clear of the genes for this disorder.    The only reason we found out about it was because my husband was going thru the evaluation process for a transplant.  He is now listed but has recently gotten sicker, as your friend.      We have ask that if and when my husband gets a liver transplant will we have to worry about the hemochromatosis, we were told no.  Once the transplant is done there is no need to worry any more.

There is a website called American Hemochromatosis society.  The woman who founded this organization lost her mother because of the disease.  You may find it very helpful.  I would definitely cherish every minute you have with your best friend.  I am not saying that there is no hope because I have hope every day that my husband gets a new liver but at a recent doctor visit with our hepatologist(liver Doc) he basically told us to make live everyday to the fullest.  My husband said that sounded like a death sentence to him. 

 I have done a lot of research on both hemochromatosis and liver disease because I am the one who has to speak up for my husband because some days he just doesnt understand what is going on(also because of both liver disease and hemochromatosis).  Hemochromatosis is rare but since we have found out about it, I have came into contact with at least 4 other people who have his genetic defect.  They rate it at 1 in every 250 people.  Good luck to you and your best friend