Anyone have experience with this? Our family did 23andme for Christmas and my middle lad has his results back showing he’s a carrier. No big deal for a carrier, of course, but I’m betting mine will come back homozygous looking at symptoms/expectations for a lady coming close to menopause and seeing so many things I’ve been experiencing the past couple of years that doctors tell me is all due to “stress” and “being out of condition,” neither of which is accurate, but such is the tale I’m told.
I’m getting blood tests via a scheduled school (workplace) health event next Friday, but up until this year iron numbers have not been high. I don’t get tired or have joint pain either, but most other symptoms are there (never hungry, vascular issues, etc). One iron number was low once and iron supplements were recommended. My body could NOT handle those - very evident immediately with every side effect possible, including fatigue and joint pain - so I stopped them and a retest came back fine (making me think the first test was off).
If the genetic test shows I have both genes, do you think a doctor would accept that and change their thoughts as to cause of my issues (aka, start to take them seriously) or would they tell me to “stay off the internet” as I was told when I point blank asked them to check out my vascular system? Since I haven’t yet reached menopause and already donate blood regularly - (3 gallon certificate reached for just this location a couple of donations ago - noting it makes me feel instantly better for a day or so post donating the past couple years), I’m doubtful the blood numbers are going to be off yet, but with the potential for organ damage, I’d really rather not be blown off if there’s anything that could be done if something were “caught early.”
Middle son (being in med school) tells me if I go where he studies he has doctors he knows that will take this seriously, but that’s 6 hours one way away. One would think I could find someone local to do the same… what will they take as “enough evidence” to at least check some things out?
My mother has Stage IV cancer. I’ve had a benign brain tumor (that shouldn’t be an issue any longer post radiation). Their position is these facts give me the stress and nothing is wrong. My position is I’ve “accepted” that possibility for quite some time as things progress and no longer believe it to be true (for the past couple of years). I’d prefer some sort of tests to reach the conclusion rather than “best guess” (esp for vascular), but I don’t get to make that decision.
If my own genetic test doesn’t show both genes, I’m still without answers for everything, but at this point, that will be a big surprise. This is the first thing that has ticked enough boxes to even have my son calling to tell me about it.
ps I’m asking because I have no plans to return to a doctor if it’s not likely to change their thoughts. At this point in my life I only go if it’s an obvious thing (similar to bleeding and needing stitches). It’s far more stress in my life to be told it’s all in my mind, so that part I want to skip. I can try to avoid as much iron as possible in my diet and be certain to donate blood as soon as I’m eligible if that’s all that can be done on my part.
@jym626, I’m not sure whether that’s true. Although removing the blood is helpful to the person with hemochromatosis, it’s possible that the unusual composition of the blood might make it unsuitable for donation.
Interesting follow-up— just read that red cross says the blood is totally acceptable and suitable as a donation, but because patients with hemochromatosis would otherwise have to pay to have their blood removed (to lower their iron levels) and when they donate its free, they consider this “compensation” to the patient with hemochromatosis. Wonder if AABB has the same policy? Turning away a blood donor is unfortunate. Seems to be a rigid policy that causes someone who is willing to donate not to.
Donated blood is suitable for transfusion as long as one is an acceptable donor otherwise ( no travel to malaria area, no hepatitis B/C etc). The NIH has a program for patients with hemochromatosis if you are close to Bethesda, MD. Otherwise find a hematologist knowledgeable about this condition.
Creekland, if it were me, I’d travel to where your son knows doctors who will take this seriously. Once you were to get a diagnosis, you can go closer to home.
Yesterday I just had my annual follow up with the electrophysiologist who was the first to take my issues seriously and give me an appropriate diagnosis. I spent the rest of the day thinking how thankful I was to find him.
Because he knows all the testing I’ve had done and has taken the time to get to know me, I know he will be there for me when other doctors misinterpret my symptoms. Now if any doctor or nurse questions my condition, I tell them they can contact Dr. ****, and that puts an end to it. It helps he is apecialist within a specialty and is well-respected and well-liked. It has helped so much.
If you were recently diagnosed with something pretty icky, and the best team happened to be 6 hours away, and you’d also get to visit your kid, you’d be on the road right now - right? Make the road trip. Get the good medical advice. Take things from there.
I have flown HI to Denver multiple times to see a top MD. I now fly HI to SF, which is much closer. Our D also sees a MD at Stanford. It’s well worth it to us to see an expert who knows how to treat our conditions well — see the expert annually or as often as requested and it works well. My remote docs are available to me and my local docs by email or cell phone.
If I had a loved one in medical profession 6 hours away who could treat me well, I’d be there whenever I could be added to the sch dile. It’s well worth it to have an expert consultation and have them available by email for when local docs need guidance.
Wait. You have not been diagnosed with anything yet? Just a possibility that some test that has not been approved for medical diagnosis would come back positive?
@BunsenBurner and @HImom, I think the important point is Creekland has a slew of long-standing physical problems with no explanation. She just found out her S is a carrier of a disorder that might explain her problems… if she were also to have the genes. If that is the case, I don’t think it is unreasonable for her to try to find a doctor to listen to her and investigate, without being snarky.
I had the same lousy explanation that my problems were caused by anxiety and stress. And I also got predictions of doom from other doctors, like I could die any minute. It was not fun. It was much better to get an answer and understand what I might be able to do to feel better.
I am not being snarky. I am just pointing out that OP needs to get diagnosed first, then look for options. There are a lot of “ifs” in the OP and a lot of unnecessary anxiety. It sounds like OP needs to get a real test done to alleviate her anxiety and to talk to a genetic counselor as having two mutated copies of the gene does not necessarily mean having the disease.
Yay, I have fired lots of MDs who wouldn’t work with me. My relatives call me a patient from he** but fortunately my MDs get along great with me!
I agree if you have mysterious symptoms and aren’t being taken seriously or no one nearby seems to be able to help you, going to folks who are more expert at rarer health issues can be very helpful. I and my kids have done this and are glad it has helped us.
Yes, there is definitely no diagnosis yet - not even close - just the possibility of finally having some answers rather than puzzles and “auto-dismissing” of anything. For those who understand, there’s a lot of “non” anxiety in that.
It makes total sense to me now not to even try for a diagnosis here should the genetic testing come back keeping this a possibility as I get the same type of snark in the doctors here - the thought that no one could possibly be looking at this in an intelligent thoughtful way - one must be stressing and anxious about it thinking they are about to die!!!
In reality it’s quite the opposite. It’s merely noticing things that are changing - notching up in that “not right for me nor common in any of my similar aged peers, etc” and the scientific belief that everything has a cause, so wondering what it is. Given enough time to see that the body isn’t fixing itself (homeostasis), one eventually turns to experts expecting help. The anxiety comes from being treated like one is crazy. When told to eliminate stress, I did. I eliminated doctor appts.
The things going on continue however, so keep the intrigue going. Every once in a while something comes up that could lead to an explanation. This is one my current med school lad noticed from his results and told me to look at. I don’t have my results yet even though we sent ours in the same day (whole family did - he’s the only one with results so far). Maybe it will be something and maybe not. I just had to decide whether it was worth it to see a doctor about if I get results that fit.
I have my answer. It’s definitely not something to do here where there’s the same snark. I’ll either just be sure to donate blood as often as I can being thankful I at least have the explanation I was seeking or head to where middle son has contacts who believe things can be caused by something other than stress/anxiety in a female should I decide more might possibly be able to be done.
FWIW, my mom’s doctor was convinced her problems were all stress/anxiety too, so it apparently runs in the family - another genetic trait I suppose. Of course, she’s soon to pass away from Stage IV esophageal cancer, undoubtedly caused by that “stress.”
(I do NOT think I have cancer. If I did, I’d have died long before now from it. My mom is quick to run to a doctor. I am not. The main reason they knew my brain tumor was benign was because it took me 18 months to decide to have my symptoms checked out as I finally resigned to my body not healing itself. In general, I’m a believer in homeostasis/lifestyle fixes.)
Are you saying that, if you have the symptoms and the genes, you might not go to a doc for mangement? You’d self treat via blood donations? Presumably, you read up on the damage this syndrome could cause.
