Does anyone else have ferroportin disease, AKA hemochromatosis Type 4?

I tried to list some links but I am not allowed. Check Wikipedia for general info, although you seem to be well informed.

Do a search for support groups. NIH rare diseases lists some.
God bless! IR

@corsair9, I noticed that you wished to post URLs to articles with your post. You will be able to add URLs to your posts in a few days. There is a brief period where new members can't post links. We do this to deter spammers and keep the community safe. Clearly the links you wanted to post are not spam. Please allow me to post it for you.

- Hereditary Hemochromatosis: Rapid Evidence Review https://www.aafp.org/pubs/afp/issues/2021/0900/p263.html
- Hemochromatosis type 4 https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4

Thank you, Ms Young. I understand the policy and accept it, but you are very kind to provide info that could be very helpful to the poster - who seemed to feel isolated and alone. Have a blessed day. IR

I just thought that I would post again to see if anyone new is out there. I must really be alone. LOL.

Hi @mayo99824
I am not familiar with Ferroportin Disease/Hemochromatosis Type 4, the hereditary type of Hemochromatosis so I needed to reserach a bit. I do relate to the feeling of being all alone in a health struggle, especially one that is not straight-forward. I love your persistence to find others!

The NIH has a super informative website you may be familiar with. I wonder if in addition to the condition being rare your struggle finding others may have to do with inconsistent presentation between individuals, doctors not being familiar with it and the older age it typically is found. “On average, it can take more than six years to receive an accurate diagnosis. Many primary care providers (PCPs) may not be familiar with rare diseases, and patients often need to visit multiple specialists or seek second opinions to get answers.”
- NIH Disease Information Hemochromatosis Type 4 https://rarediseases.info.nih.gov/diseases/10094/hemochromatosis-type-4

Most of the Mayo Clinic Connect conversations are in the Blood Cancer and Disorders Support Group, though I did find more in Digestive Health, Skin Health, Autoimmune Diseases and Heart & Blood Health. A search from the home page returned conversations related to hemochromatosis. This may be a good place to find others familiar with the general condition. https://connect.mayoclinic.org/search/

I am not sure where you are located. Mayo Clinic has a Hereditary Hemochromatosis Clinic that may be a good resource:
- Hemochromatosis Overview https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443
- Mayo Clinic Hemochromatosis Clinic https://www.mayoclinic.org/departments-centers/hereditary-hemochromatosis-clinic-in-florida/overview/ovc-20357746

I am curious…How does Hemochromatosis affect you, and what does your care team look like? What would you tell/ask to the first person that comments here that they have this same diagnosis? What is your biggest struggle?

It is hard to be concrete about how the disease affects me because I haven’t even been able to find a doctor who can inform me about it. The way I ended up discovering that this is even a thing was that my gastroenterologist tested me for hemochromatosis based on my blood tests. She did genetic testing for the most common types 1 and 2. I did not have the genetics for 1 or 2. That year my son gifted me a commercial genetic test for medical markers and that is where the SLC40A1 mutation showed up. The gastro said she didn’t know much about that and sent me to a specialist. He refused to accept the commercial result and also refused to do his own provider genetic test because he said that there is nothing anyone can do for Type 4 anyway. He is now retired and I have not found a replacement in our remote community.
The reason I was seeing a gastro in the first place was due to high liver enzymes. It is a long story of confusion over testing, treatments, diagnoses, etc. Due to frustrations over doctor orders that don’t make sense and may be more harmful than helpful (like radioactive trace scans every 6 months being ok because I will be dead before the buildup of radioactivity kills me), I did my own research and my enzymes have normalized but that doesn’t mean that everything is fine. Since Type 4/Ferroportin disease can also be passed on to my children, I want to know as much as I can about it. For instance, my daughter’s caregiver says she is anemic but if she has ferroportin, taking iron supplements may be the worst thing to do. I have never been able to take iron supplements without getting really nauseous which might be a good thing. All of my blood relatives on my dad’s side died before the age of 55 so . . .

@mayo99824 I was hoping others with Hemochromatosis-type 4 would connect with you here but that has not happened. You are being so proactive for yourself and your daughter, doing an amazing job tracking down resources.

I have an unusual combination of gene defects impacting how my body functions, and I also see similarities when I look at my children. Thinking about family adds complexity to my concerns, particularly when I look at my grand babies. I am a patient at Mayo Clinic Rochester where I have confidence their care will help me live my best life. Like you, I am hopeful what we learn will directly helps our children.

I am not sure where you live but you may want to consider Mayo Clinic to visit their Hereditary Hemochromatosis Clinic. You are having such a difficult time finding someone knowledgeable and it looks like they provide diagnostics, treatments and education to patients who have hereditary hemochromatosis or who are at risk of developing it.

What do you think about visiting Mayo Clinic to learn more that may help both you and your daughter? You can use this link to pursue an appointment: http://mayocl.in/1mtmR63

When I looked into the Mayo Clinic in the past they did not do Hemochromatosis Type 4. I can look again. Thanks.

@mayo99824 Darn!

I went back and read the article I linked above, Mayo Clinic Hemochromatosis Overview. I noticed one doctor listed that focuses on hereditary hemochromatosis research, Dr. William Palmer. He is also director of the Hereditary Hemochromatosis Clinic at Mayo Clinic in Florida. You will find more about him, including his contact information here:
- Dr William Palmer, Mayo Clinic https://www.mayo.edu/research/faculty/palmer-william-c-m-d/bio-20463187

I am interested to hear what more you learn, and how your daughter is doing. I hope you will come back and provide updates. Do you think Dr. Palmer is a possibility?

I tried the link to the clinic but the link was not working. I tried emailing directly to Dr. Palmer and we will see if that works. Usually those emails go to staff and that is okay. I need to know if he works with hemo4 and they can tell me that. Many doctors do not. Thanks for the lead.