Is this normal?
Posted , 7 users are following.
Hi, I'm 18 year old female and I've been diagnosed with haemochromatosis after on going tests since an illness in early 2014 made me lose 2 stone and become seriously exhausted and incapable of doing much. My iron levels were always high and always ignored, I had to push for the genetic test as I wasn't really being taken seriously. Obviously the test came out positive and i was recommended venesections, but I knew very little about the condition. I made an appointment with my gp and she had no idea what it was and printed off the generic NHS info sheets on it and sent me off saying I'd get a referral and be seen in 6 weeks.
Today I got a letter in the post saying I won't be seen until late June, is this normal? I was hoping to be seen in the next few weeks as this referral is to a hospital near where I attend university, half the way across the country from where I live and I won't be there in June
I don't really know what to do, or if I'm being treated right?
1 like, 15 replies
joyce1959 ellen23311
Posted
Hi Ellen
So sorry you have been given the hh diagnosis, I'm not sure what part of the country you're in, but waiting times do differ between health authority's. I was diagnosed last June and didn't see the consultant until August, then venesection commenced in September. They were the longest months of my life as I felt so unwell. Apparently some people are waiting a lot longer so I've heard, especially in Ireland. If you feel unwell my advice would be to ask gp for urgent appointment, failing that ask which consultant you are being referred to, then contact their secretary to see if they can fast track your appointment. Failing that you could contact PALS the patient advisory service. The number will be on your local hospitals website. Hope this helps, take care.
ellen23311 joyce1959
Posted
Thank you! If anything the diagnosis is a relief
I'll be in touch with my doctors this week to try and speed it up because I feel awful, my work is suffering and I want to enjoy things again. I'm currently in Newcastle, but this is just so much waiting after years of tests. I've always had a waiting time of 6 months to a year between GI appointments and often never hearing about results of numerous endoscopys, colonoscopys and mri's, I just want to know more and move on with things.
joyce1959 ellen23311
Posted
I'm in Newcastle too! I am under Mr Hayat at Rake Lane hospital. It took ages for my diagnosis but unlike you the gps hadn't referred me to any specialists. It was another gp I saw and she luckily did a ferritin test which was 950. I'm down to 278 and just starting to feel better. Depression palpatations and abdo pain has been my worst symptoms.
ellen23311 joyce1959
Posted
After your advice i just got off the phone with my doctor, luckily my levels are at the low end of bad because i'm so young, its just the transferrin saturation that is scary high. I have a part time job at tesco, this week i had to call in sick because of the flu mixed with exhaustion, i dont want to get fired because of the effects of haemochromatosis. I think ive been referred to heptology at the Freeman hospitial, who will decide if i even need to have venesections at this point or if its something i will have to manage myself.
GillianA ellen23311
Posted
lynnsk1 ellen23311
Posted
Well Ellen, This is your life and I didn't find out until about 5weeks ago . I am 60 & have suffered various symptoms since my 20's. I'm also very fit and been involved in sports and body movement e.g. Instructor of Pilates & Hanna Somatics. If I had known earlier in my life then it could have avoided my present condition so for me the question/answer is easy. Tell them this is your life in their hands, best treatment; 'prevention is better than cure' and cheaper for NHS in the long term. So get an appointment asap. Atleast if you need venesection they can start that straight away. I did. Problem is that general medical practitioners & other consultants it seems do not have Awareness of this iron overload disease. If you know you have the genetic Hemochromatosis early then it can be easily managed to live a long and fruitful life. Hope this helps.
sheryl37154 ellen23311
Posted
Hi Ellen, very rarely are people diagnosed with haemochromatosis at age 18 unless they have relatives who have been diagnosed, or if it is juvenile haemochromatosis.
Have you had a genetic test to confirm, what are the HFE genes, what are
your ferritin, TS% and iron levels?
Was your illness glandular fever by any chance? My son had glandular fever when he was 18, diagnosed with haemochromatosis C282Y/H63D with a ferritin level of 772 at age 18 after I had been diagnosed with it after 9 years of serious symptoms C282Y/C282Y. Consequently, my husband was also diagnosed with it H63D/H63D.
I do believe that an illness like glandular fever/Eppstein Barr Syndrome which affects a lot of our organs, makes the symptoms of haemochromatosis worse. The organs have already been affected and provide a weakened pathway to them. I asked for a test and found to have Eppstein Barr anti-bodies, and remember having had was what was considered a bad flu at the time - it even put me in hospital. Obviously no tests were done back then.
A high transferrin saturation % (>45%) is a marker/indicator for haemochromatosis. It might stay that way for a long time even after your ferritin has been de-ironed to <50. It is the percentage of your serum iron being transported around your body, while your ferritin is the amount of iron stored in your organs.
I would suggest you contact your country's haemochromatosis association and talk to them, get information from them or their website, and question them about the length of time you have to wait. You should provide your Iron Studies levels, and the results of your genetic test if known. They should provide you with very good advice as they are the most knowledgeable about haemochromatosis.
If, after you have seen the consultant, and they don't order venesections, you could always donate every 3 months at your local blood bank, but they may get upset if they know you have haemochromatosis. Your blood is not bad nor diseased, but that is their protocols because of the ignorance that still surrounds haemochromatosis.
I donated for years before I was diagnosed and they would say they love people like me with high Hb. But when I was diagnosed and told them, they refused to take my blood without drs orders, then they discarded it because of their ignorance. I actually have much less ferritin than 'normal' people now, but I must keep having my maintenance venesections because it builds up.
Good luck with it, and keep asking questions.
sheryl37154
Posted
ellen23311 sheryl37154
Posted
Hi Sheryl, I've had the genetic test and so far it's only me in the family
The cause of whatever made me ill was never found but my blood tests always came back abnormal and i had issues with my bowels too. A GI consultant suggested that I had an MRI scan for crohns and briefly mentioned haemochromatosis which he was "98% sure i didn't have". Had the MRI and never heard from the consultant again so i took matters into my own hands and arranged the genetic test.
My iron is 35 which i know is very low on the bad side, which is why my wait to see a consultant is so long, and my transferrin saturation is 60%.
The tiredness i feel is probably just being made worse by first year of uni and not prioritising sleep rather than it being from the iron
Thank you for the advice!
sheryl37154 ellen23311
Posted
Do you know what the HFE genes are that they found? If not you should ask for a copy of the results. Some HFE genes are more aggressive than others.
Crohns can go hand in hand with haemochromatosis, particularly those with Irish heritage. It can make you aenemic even though you have haemochromatosis genes. You say your iron is 35, do you mean your ferritin? Iron levels are different. The normal range for iron is 10-30. So you need to be sure of that. Is your haemoglobin low?
You should also obtain a copy of the report from your MRI. Your gp should have that if he/she was the one that referred you to the GI consultant. If he does not, then get him to phone the GI consultant and ask for a copy to be sent to him so that he knows the result and you get a copy. Don't let that go unquestionned. We learn that we have the power to be assertive with drs as we age, because we don't know any different when we are younger.
I have learnt to ask for the copy of the report and cd when I have any radiography procedure done.
Good on you for being assertive about getting a genetic test done. However, your parents must have been carriers at the very least for you to have inherited that gene from each of them. They deserve to be tested properly and given the true results. No, in general, they do not have haemochromatosis if they are only carriers, but they and you need to know what their carrier gene is. As do your siblings, cousins, uncles, aunts. Once again it is about asking for a copy.
It is terribly difficult for most of us who have been diagnosed at a later age with symptoms, so will be awful for you if you are struggling with this on your own. Keep pushing to find out why you are so tired, and what your gastro problems are.
I know some uni students who have 2 part time jobs and a child or two as well. The way I feel now, I don't know how they do it. Before I had the symptoms of haemochromatosis, I would have been able to do it - tiredly, of course.
Because a lot of drs remain in ignorance about haemochromatosis, you must educate yourself about it to make sure you are being treated properly.
ellen23311 sheryl37154
Posted
Are iron and ferritin levels different? My doctor definitely just said that my iron was 35, and that normal was up to 30. She also said that she doesn't think I'll need any treatment now and just brushed me off.
I have the C282Y/C282Y kind, my family members are getting tested too
lynnsk1 ellen23311
Posted
sheryl37154 ellen23311
Posted
If you are menstruating regularly, it will be keeping your ferritin levels down, too.
C282Y/C282Y is the more aggressive one, so do keep monitored.
michael1960 ellen23311
Posted
Hi Ellen. That doesn't sound right to me, i rather think you should be seen quicker than that. As i don't know your Iron levels, maybe they reckon there low enough to wait.!
Tiredness is a major factor in this Illness, but an Iron reduction would help you feel a bit better.
Might be an idea to push this on a bit, tell them your feeling really bad,and feel a few Venesections would help you a bit.
ellen23311
Posted
Got home from uni to find my home hospital had booked me an appointment too, got my mom to phone and ask why i had so many appointments and which one i should go too. The receptionist was quite shocked to find out i was waiting till June as they had written a letter to say i needed to be referred asap, instead i was referred to the wrong department and put on a long waiting list for an appointment just to be told that i had haemochromatosis.
Calling to see what can be done, but now this means I will have to stay in newcastle to have venesections because they can't move it home for the holidays
All very confusing and it would be nice to be taken seriously at some point.