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 . . .