Newly diagnosed - Frustrating doctor visit
Posted , 8 users are following.
HiI all. 54 y.o. male here. I recently had a positive result (two copies of H282Y mutation). Ferritin is 880. Transferrin Saturation is 84%. Iron is 204, TIBC is 243, Transferrin 170. Hemoglobin and other blood numbers are within normal range. Saw the hematologist today who stated to the nurse that he does not do phlebotomies unless a patient's ferritin is at 2,000. He also referred to my mutation result as heterogygous. Two copies of the C282Y mutation is homozygous, correct? While his plan of action for now might have been the same regardless, I left there thinking he did not really read my chart or test results very well before my appointment or during.
Is 880 ferritin too low to start phlebotomies? I don't want to wait until there is evidence of organ compromise or until my level reaches 2,000. Am I being unreasonable?
Thanks!
1 like, 20 replies
tom_70042 PMHalf
Posted
I am actually stunned by this a view nit to start vs until you hit 2000 is just not right
Go and see someone else i started weekly vs when I was at 1200 you need another opinion now you are being fobbed off
There are some heamatologists and doctors out there who are simply ignorant of our condition
Dont accept just my advice others here im sure will tell you too to force the position to get the care you deserve
peekay PMHalf
Posted
Pretty much as Tom said above. I started at 2000+ but that's just because that's what I was when they picked it up. Brother was positive tested within a few weeks of myself and they started him at ~500. You could try asking to see a gastrologist as it is a liver issue so more their speciality
sheryl37154 peekay
Posted
Actually it is a metabolic disorder of the blood. Bringing a gastroenterologist into it is only necessary if it has affected your liver and it does not always do so one ends up enduring and paying for liver investigations unnecessarily. They do like to own the disorder though. One told my husband that he did not have haemochromatosis unless he said so, despite a genetic confirmation and high ferritin. There was no indication of liver problems but the gastro wanted to do a biopsy to prove it. We did not go back.
PMHalf's haemotologist is just as unbelievable and should be reported.
Cebby78 PMHalf
Posted
When I was diagnosed with HH (Homozygous C282Y gene) my ferretin was only 264. I was started on monthly venesections immediately. I was 40 and had developed arthritis in my fingers and had aches and pains from my toes to my nose! My levels are now down to around 50 and I feel like a normal human being again. I urge you to seek a second opinion.
PMHalf Cebby78
Posted
I feel for you with that joint pain. This is what makes my situation more perplexing. I've had psoriatic arthritis for much of my adult life, diagnosed 21 years ago. It is under good control for the most part. BUT, a radiologist theorized that my recent hand xrays showed signs of hemochromatosis, so I alerted my rheumatologist that my brother has HH. I thought i was tested 15 years ago when he was DXed. Rheumatologist sent me for the iron blood tests then genetic blood test. Many of the symptoms of psoriatic arthritis and HH are the same...fatigue, joint stiffness, etc. The hematologist agreed it is impossible to differentiate which symptoms come from which disease...or both.
A second opinion is definitely in order.
jax15282 PMHalf
Posted
just for clarification.....you have indicated both H282y and then C282 Y......which are you?
PMHalf jax15282
Posted
C282Y, sorry for the mistake. Two copies of the C282Y mutation!
sheryl37154 PMHalf
Posted
This is so wrong - he has no knowledge whatsoever of haemochromatosis treatment or ignores what has been established. Phone your country's haemochromatosis organisation and tell them - with the hope that they can find a way to educate him so that he does not do this to any more people. (Does he even have a license to treat?) In the meantime ask for a referral to another haemotologist (inform your dr) and do not go back to this quack.
Up to 30 years ago, my gp refused to diagnose me with GH as I did not look like I had liver damage nor grey diabetes. I had no knowledge of GH's existence but she did. It was before Google so I could not even check for myself. She was looking for end results which is too late for me or anyone. As it was, my hips broke up from avascular necrosis after 9 years of severe symptoms because of my serious iron overload and that was when I was diagnosed (by the radiographer). Then my gp misread my son's genetic results, I asked to read it, and saw that he was compound heterozygous, not just heterozygous - and she was deemed to be the best female gp in the city!
But this is 30 years later, and there is plenty of information regarding GH available to drs now.
PMHalf
Posted
C282Y not H282Y...sorry about that.
PMHalf
Posted
Thanks for the replies. It is appreciated. I live in a city where I will be able to find a doctor who is more familiar with HH. My brother's doctor desnt take my insurance, due to a fight among major insurers in my area. Also good to know I wasn't being overly sensitive. I'm sure this doc sees very sick cancer patients all day, but not many people at all with hemochromatosis. Not excusing him, but that's the sad fact.
jax15282 PMHalf
Posted
I have also just been diagnosed so all this is new to me.....I had never heard of ferritin or hemochromatosis, so it was certainly a surprise. I have found an extremely informative and helpful site, but am not sure what rules are on posting such sites...it is not an advertisement of
any kind. if you know anyway of contacting me directly through this site I would send you
the link. If anyone else can advise me what is/not allowed to be posted please advise.
PMHalf
Posted
Encouraging update: I had an appointment today with a GI doctor within the same health system who has a much better handle on the diagnosis and treatment protocols for hemochromatosis. I have my first phlebotomy treatment tomorrow and we are going ahead with the testing the other doc ordered. I'm feeling much better about this approach.
The new doc didn't directly throw the other doc under the bus, but wondered if he was using "a very outdated protocol." I wouldn't be surprised if he receives an "enlightening" letter from the new doc regarding the proper diagnosis and treatment algorithms.
DebzHomozygous PMHalf
Posted
Hi there, I got the bad news in March this year, I was put on the waiting list (urgent) but found out it is 66 weeks before I will be even seen by the Hematologist, so thank your lucky stars you seen yours so fast! Regarding your mutation, 2 copies of the C282Y mutation is homozygous, possibly the worst one out there and also the one I have. Regarding your his statement "that he does not do phlebotomies unless a patient's ferritin is at 2,000." I hate to inform you that after 1000 damage starts to occur in the body! Although exactly where and how this damage starts I simply don"t know. Hopefully this next bit will be helpful >> After 3 months of being very anxious about my Serum ferritin rising from 450 to 800 in just 3 months, I contacted the Blood donation clinic "against my doctors wishes" I asked them if they could please just take my blood and dump it, they replied " We can use your blood to treat cancer sufferers" I have been going up every 2 weeks for the last 16 weeks and had 8 pints removed so far. My Serum ferritin levels are down to just under 200 now, my serum iron level and transferrin saturation index are now normal. Although I am still tired all the time, still losing my hair, still have the same amount of pain in my bones, still have tremors in my arms and spasms in my calves, all my joints pop and crack every time I move and I am still very forgetful! But the doctors seems to think this will be the case until my Serum ferritin is down to below 50.
So please contact you nearest hospital to see if they can treat you, at the Blood donation clinic. Your doctor will need to send them a letter of referral, so ask the hospital for there address and who to send the referral to.
I hope this has been helpful 😃
Cebby78 DebzHomozygous
Posted
HI Deb! Just wondering if you are in Australia? I wasnt aware that we could dump blood at hospitals for Cancer patients? I am in Australia.
sheryl37154 Cebby78
Posted
I am in Australia too and I have my vx in an Oncology unit in a hospital but they would definitely NOT use my blood for cancer patients. At first I thought they must be taking plasma from Deb which is used for cancer patients, but that does not remove iron.
The best use made of my blood was when they used it to practice removing and growing stem cells, but the law still states they must use autologous donations for stem cells.
It is very interesting that a medical research student has proven that iron promotes cancer growth. And this was the cause of a friend of mine who had blood transfusions before having chemo etc which failed twice. She did well on the third go at chemo when she did not have a blood transfusion beforehand. Unfortunately, the treatment lasted only 5 years and she did not want to repeat the trauma and thus passed away.
sheryl37154
Posted
She was also having stem cell treatment after the chemo killed off her cancer cells in her blood. The stem cells were grown from stem cells in her own blood.
It was also interesting that she told me that there was GH in her family but she had never been tested because "only males have GH, don't they?" How horribly sad, and perhaps unnecessary if diagnosed and treated earlier.
DebzHomozygous Cebby78
Posted
Hi Cebby I am in Northern Ireland, sorry for late response 😃
DebzHomozygous sheryl37154
Posted
Hi Sheryl
I think I remember them saying they take plasma from my blood to treat the cancer patients, and hmm, poor memory here > was it white cells to treat burns victims. Either way, it's being used, not dumped, which makes me happy.