Really struggling yet to be diagnosed

Allergies, blood and immune system
1

Hi everyone,

I am actually posting on behalf of my husband. he has an uncle with haemochromotosis and we only found this out a few months ago. My husband is now showing all the symptoms of HC and recently had a blood test done at his GPs (after much persuasion) this showed a ferritin level of 729. I had to ask if his transferrin saturation level had been checked. It hadn't so he had another blood test on Tuesday for which we are waiting for results. He has been referred to a haematologist who he is seeing on 22nd August. We are going private and he will have to travel 30 odd miles to see this haematologist which in his current state of health is going to be hell for him. He is utterly and completely exhausted and as ill as I have ever seen him in our 19 years together. He has been off work since the 27th July and I am sure he will not be able to work at all until we get some treatment for him. He also has discomfort in his abdomen and has been booked in for an ultrasound to check his liver - his liver enzymes were normal at his first blood test. He says that he could work if it wasn't  for the extreme fatigue. He is eating but not a lot, he says he is too tired to eat. We have tried green tea and zinc but the green tea is making him feel ill (it is the mega concentrated stuff) Needless to say I am out of my mind with worry and want to help him as much as I can. Any advice at all on how we can improve his energy levels would be so appreciated. In fact any advice at all please! Thanks so much. Carole

2

Hi Carole I'm newly diagnosed and waiting for my consultant appointment on 24th August, I'm seeing a gastroenterologist. I'm awaiting my genetic test through the GP to see what my type is, but my ferritin was 950. Like your hubby I feel absolute fatigue and abdominal pain so I sympathise with him, it's awful. Best wishes to him and hope we feel better soon.

3

Hi Carole. Mike here..sorry to hear of your struggles at the moment. Fatigue really is the number one symptom of Haemochromatosis, and the thing which really does usually help is to get the phlebotomy treatment started asap. My ferritin level was 2000! My only symptom was very painful joints in my hands...every one has unique symptoms.....I had no real fatigue, or any other symptoms. Fatigue though is the normal one. Many sufferers I chat to do say how fatigue symptoms really improve once the ferritin levels are lowered. In the meantime it really is about pushing to get treatment started asap.

Even try to see a haematologist privately if that helps and you have some funding to do so. It's getting rid of that excess iron which is needed! It is a worrying time. Can I recommend that you contact the Haemochromatosis Society...find them online and give them a call. They're brilliant, and we're very helpful to me on the phone. I've joined them...it's worth doing. You get a brilliant hand book with all the info you need. Now I've had my treatment and am in maintenance phase, I'm running the Brentwood half marathon next year to raise money for them...to say thanks for all their great work. Give them a call today! Keep in touch. Mike.

4

Hello there sorry to hear how rotton yourhusband is feeling at least now he is on the right path and things are moving forward maybe if he donated blood that would help with the fatigue i read a lot on here where people say its helped them . I have joined the hemochromtosis society uk it does cost but not a lot and the money helps with research not enough is known about different genes has your husband had a genetics test .

5

Thanks so much for replying Joyce. i'm not even sure if the GP is testing for genetics - I'm a bit hacked off with them to be honest - I have had to do all the research and basically tell them what to do. I thought they were testing for haemochromotosis but I don't think they actually are - they keep saying they are not the experts hence the referral!! Sigh. I hope you get on OK with the consultants. Take care.

6

Thanks so much Mike, I don't feel so alone now. we are seeing a haematologist privately but he only works on Mondays! there seem to be a severe lack of haematologists up here in Scotland! I have had a look at the Haemachromatosis society - it looks a very valuable resource. the thing is though my husband hasn't even been diagnosed yet - although everything is pointing to that. good luck with your training for the marathon!

7

I was mad with my GP too! I asked for the genetic test as it takes four weeks and I wanted the result before I see the consultant. Like yours they didn't seem to know much about it all.

8

Hi there,

no he hasn't had a genetics test yet - is that done through the GP because quite honestly they have been useless! I did think about donating blood but at the moment he is barely functioning he is so exhausted. We are just hanging on until we can see the consultant - it can't come quick enough!

9

Hi different doctors act at different paces a lot want to do iron levels etc first because they dont cost much where as genetic testing is more expensive.but your husband had every rite to have one you need a consent form from gp to take with you when your husband goes for genetics blood test your doctor should be on to this with your husbands familly history .results can take up to six weeks .call doctors and ask like somone on here said you have to be your own advocate .doctors simply dont know enough yet its much more common than you would believe am told doctors are now being more educated about it my doctors knows quite a bit but my sons doctor had to google it good luck hope you get some answers soon x

10

I'm here in the USA -- I would like to think they also checked to see if anemia was present (which can attribute to the fatigue).  Currently in the maintenance phase after being treated with venesections for just short of six months.  The only thing I can tell you about this condition is that everyone is different and what works for one may not work for another.  You have to be proactive with your Drs. and ask questions and do your own research. Good luck.

11

TS% is very important in the diagnosis stage.  If it is >50% (male) you can be pretty sure it is hereditary haemochromatosis.  Good on you for picking that up and asking for it to be tested.

As you have discovered, we do have to educate ourselves, be our own advocates and point the drs in the right direction.  Ridiculous, isn't it?  Hc is not something new in the medical field.

I would say go donate some blood to try to get some slight relief, if only mentally, as you will feel like you are doing something beneficial.  Do not mention the Hc word.  Although if he does donate, make sure you tell the haemotologist so that he takes this into account, when he retests your husband.

Fatty livers generally do not show up on LFTs, only on a scan.  Just heard from a specialist at a conference that they do not know what causes the abdominal pain, except maybe the swelling pressure of a fatty liver.  We are prone to Helicobacter pylori, which can cause a lot of pain in the duodenum and stomach leading to ulcers.

Black tea is fine (and especially with milk), I generally make up a green tea and a herbal tea mix, and drink during the day.  However, it is calcium products that have the best affect on reducing the uptake of iron at meals.  You will have found out that he should avoid vit c tablets and vit c drinks with meals.  However, I would constantly have colds and flus if I did not take my vit c tablets, so I take it last thing at night when hopefully my stomach is empty (early dinner).

Let us know what his TS% is when you find out.

12

thanks so much. Turns out he has been tested for TS% after all and we are still waiting for the results for that!! Oh boy.He is really too exhausted to do anything at the moment so I think the blood donation is out of the question as there is nowhere near us anyway but i will look into the calcium thing - I had read that. I so appreciate your help. Take care.

13

Good look bless him hope he gets the help he so needs x

14

Well if I have anything to do with it he definately will! Cheers.

15

Carole, I had to come back in as I understand what his fatigue is like.  Is he staggering and slurring, brain foggy, feeling like he is not getting enough oxygen to his brain and his heart, like he has been hit by a truck, lead in his veins, everything aching?  Does he have a deep ache where his heart is?

I expect he will not be treated straight away on 22 August, as the haemotologist will want to wait for his test results.  Beg him for a venesection immediately.  Beg his gp for a venesection even now in his surgery.  It can only benefit him.

His ferritin iron warrants it.  His ferritin level is not extremely high, but his symptoms are.

I had a fellow contact me who had similar symptoms.  When he found out what the treatment was, he had his family drive him 100 miles to the nearest blood bank to donate.  Afterwards, he reported he had never felt so good for years.  He even got out and washed his car.  Now it turned out after tests, that he was heterozygous only but had a fatty liver which was loading iron.

The treatment for that is eliminating all sugars and starches.  Ferritin levels usually drop very quickly in that case.

Look for a book called "The Hemochromatosis Cookbook" at your library or ask them to get it in for you.  Not necessarily for the recipes, but there are pages of information about foods and why they are ok to consume, and tricks for reducing uptake of iron.

Also ask for tests of Vit B12 and Vit D.  If Vit B12 is very low, his body is not absorbing it the normal way and tablets don't work, so injections are necessary.  If Vit D is very low, VitD3 drops work best.  Low testosterone is also an energy killer, and HC reduces testosterone.  I know this from myself being undiagnosed for 9 years and was homozygous C282Y, my son C282Y/H63D, and my husband, homozygous H63D.  We have been through it all, finding out the hard way.

 

16

Thanks Sheryl. I am confused about the blood donation though, will they not take one look at him and say he is not well enough to donate? do you need a letter from the doctor explaining about the high ferratin level? they surely can't use the blood? he has discomfort around his middle but not in his heart area. he is not slurring but doesn't even have the energy for a shower or anything - definately like he has been hit by a truck yes. I am ringing the doctor this afternoon to see if the TS% test is back and I will ask if they can take some blood off there - i suspect they will say no but I will try. Sorry to keep asking questions but can you explain the genetics part? what is homozygous C282Y for example. do you need the genetic tests done before the haematologist will begin treatment? Thanks so much for all your help.

17

If your husband is taking some medication that the Blood Bank does not allow, they will not take his blood - there are other rules that can prevent it too.  If he really looks like he is likely to collapse, they probably will not, same as if his Bp is not good.  Do not mention possibility of HC at this point if you go to the Blood Bank - they will definitely refuse him without a dr's letter.

I used to volunteer donate before I was diagnosed.  They loved my blood then but when I was diagnosed, they sent me away.  It is not diseased blood and probably very good for those with anaemia.  It is not good for those with cancer though, but that is another story.

So at this stage, I am thinking get your dr to do it in his surgery, or request it from a pathology unit, if there is one near you.  Cry and wail, if you have to!!!  Unless your husband's haemoglobin is strangely low, it will not hurt him.  On the contrary, there is more benefit.  I am sticking my neck out, but that is what I would do, knowing what I know now.

Homozygous (2 mutations - 1 from father and 1 from mother), heterozygous (1 mutation only from either parent).  C282Y is the most aggressive, a combination of C282Y/H63D is middling, and H63D is least aggressive.  In fact, there is a move that says H63D is not worth treating and very rare to cause a high ferritin, same as C282Y/H63D.  In the case of our son, and my husband, they were high.  Same as I come across a lot of others with similar high levels - not so rare after all.

I must say I am not a dr, I just have a lot of experience in this area as I talk to a lot of people with it.  I have just come home from a conference about it.  I wish I could find the magic formula for energy, as 27 years after onset of HC and I have been deironed, I still have major fatigue and had to give up work.  That was the only way I could survive a day.  Even digesting food makes me feel like I have been hit by a truck. Expecially when I have eaten starchy foods.  Protein and green veges (cauliflower, leek and fennel, tomato, capsicum, etc. ok too) are best for me.  I also sneek in some beetroot because it is so good for the liver and the skin, but is very high in sugar.

Some people recover very well after being deironed and some of us don't.  Probably due to delayed diagnosis.

A haemotologist will want to confirm HC with a genetic test.  And it is good to have that information, then your children should have a genetic test too.

18

Thanks so much, that has clarified things a lot. he is exhausted when he is eating but at least he is eating healthly - he is most comfortable eating salads and we are vegetarian so heme iron is not a problem. i may be back after my conversation with the doctor!

19

Thank you for all the info Sheryl I too found it very helpful. I'm a new diagnosis and waiting for my genetic result and to see the consultant.