Waiting diagnosis

Hi all,my sixteen year old daughter has been ill for three months. First the gp said it was a virus, then she had brown urine and was told she was dehydrated. Then her eyes turned yellow and I took her to a and e. They diagnosed glandular fever with jaundice. She went home and was given Puriton to stop itching and put on adapted hours because of fatigue. She continued to have liver function tests which have not improved. Her billi levels are still very high. After much persistence got her back to consultant yesterday who ordered lots of additional blood tests znd is booking an ultrasound and biopsy. She has lost a stone in weight. Her nan has always had shakes and I am now wondering if it's Wilson disease. Any one else had a similar story? Thanks Sam

36 Replies

  • Very sorry to hear this, it must be utterly horrible for all of you.

    I can't speak to Wilson's disease I'm afraid. One other thing that may be a possibility is Autoimmune Hepatitis - which (although I have it too) is more common in younger women and girls. It is diagnosed by tests and biopsy - but is very treatable.

    Obviously there are other causes of liver disease too and also the possibility it's something that is not a primary liver issue at all but which is now affecting the liver. It's difficult to say but with any luck the various tests should be enough to say definitively.

    I'm sure others with more experience will chime in. This is a really good forum and there are lots of helpful people here.

    I'll keep everything crossed and will hope for the very best in the results. Do keep us posted if you can.

    Best regards.

  • Thanks x

  • Evening

    Sorry to hear about such a young person falling so poorly.

    Do you have the actual numbers to post for, ALT, AST, ALP, GGT, albumin, bilirubin etc? They are a fair few posters who have a good handle on what they all mean.

    Also from what I have read Glandular fever can be pretty nasty, but your daughter's case is also pretty rare, really really unlucky. Yes, it can cause the Liver to become inflamed, but I think most have sore throat and glands on the neck before that happens.

    What is a concern is that you state that the Liver numbers aren't getting better, after 3 months? This to me indicates some pretty acute inflammation. I'm not sure how it works with Glandular fever but people with inflamed Liver are usually treated with steroids to see if they can stop the inflammation. It works for some and not others though.

    There's no efficient treatment of the Glandular fever virus other than to ease the symptoms. Perhaps that might have given you the impression that the doctors weren't doing anything, in short there isn't much they can do other than to let it burn itself out. Also you and family members need to be careful because it is easily spread to others, you don't want anyone else falling ill.

    Having a poorly Liver will make people feel awful, add this virus to that too and I feel very sorry for your young child, she must feel like crap. Hopefully the inflammation will subside soon and the Liver will be able to stabilise, it can recover very quickly, but its going to be along road for her getting her health back.

    I find it interesting the doctor is doing a biopsy, they do have risk attached to them and a doctor would only go for this if they thought there was some medical benefit that was worth the risk. This hints that perhaps there are a couple of other things springing into his/her mind?

    One thing that your daughter should consider when she gets better is alcohol, it might be a good idea to get a Liver doctors advice on if she will ever be able to drink, hopefully she will avoid any scarring of the Liver, which is a possibility im sorry to say, along as the lesions (if any) aren't to bad it can recover from a real beating and be back to normal in time.

  • Last results albumen 30 alk 215 alt 22 billi 119. Blloods taken in Friday were for full blood count ana sma cerulopasmon Wilson I think alpha 1 anti trypsin urea and electrolytes and blood clotting. Hope this is right. Not a doctor x

  • Did they diagnose the glandular fever from blood test. Or guesswork? I have Autoimmune hepatitis and was recently , diagnosed with glandular fever, so,it seems unlikely (but I suppose possible) that a blood test would confuse the two? My hepatologist diagnosed my glandular fever from a blood test.

  • She had one matker ehich was positive and one negative. They also diagnosed hep e but now the consultant doesn't think this would be the issue as it would have been milder symptoms and would have cleared by now. They seem to be testing her immune system in blood tests too. Autoimmune is something else I thought of. Think the consultant was surprised she wasn't better yet. Took me a months badgering my gp to get her referred back.

  • It's possible that the positive and negative mix means she had cleared the glandular fever but is still suffering the side effects. Interesting about the Hep E as I had a positive test 2 years ago with an ALT level of 600+ when upper normal is about 30 I think. It could make you very poorly. Hope they continue testing and get to the bottom of her illness.

  • I'm so sorry to hear about your daughter. You must be worried sick. I have nothing to really offer here, except my well wishes for you both, and to say, write down ANY questions or thoughts you might have. You'll be better prepared when you see the doctor. Also, it may be best to keep a diary/journal, marking diet, how much she is sleeping, any obvious changes, how she is responding to the meds and any upcoming proceedures.

    That helped me soooo much when I was first diagnosed with serious liver disease,as did writing all questions to ask. I'm not sure if your in the US or UK, but be careful going on the Internet to get info. On here is safe, and many people are well educated about their illnesses and other related liver problems. My doctor ok'd this site, and in the US I was told that after diagnosis, to learn more that NIH was a very informative site. You'll want to stay away from WebMD and places like that. Often, they can really scare you for no reason, or say you have a different diagnosis. The best info of course will be through your specialists, as I'm sure you know..but it's just a helpful hint, no sense in getting more confused.

    Anything to do with the liver can cause exhaustion, pain, weight gain or loss, depending on the type of illness.

    I hope she is feeling better soon, and wish you the very best!

    Cheering you on,


  • Thanks Kimberly x

  • I'm so sorry to hear how ill your daughter is, my son is the same age & I know you must be out of your mind with worry. Your daughter's symptoms - except for the itching - mirror those of my husband in the early stages of his illness, which were dismissed as a virus by several GPs in the early stages. He has liver abscesses, these were initially diagnosed by xray followed by CT/MRI scans. Sorry to add another possible diagnosis to your list, but I suspect there really are a lot of potential causes.

    The only advice I can offer is to try to get a referral to a hepatologist; we have been unsuccessful in our efforts to get this so my husband is being treated by a gastroenterologist, who is a lovely man but simply not knowledgeable enough about liver problems and we are therefore in the dark about so many things.

    I wish you and your daughter well, I really hope that you get a proper diagnosis soon so she can begin the right treatment.

  • Thanks. I will ask for a referral x

  • You say you have been unsuccessful in getting a Hepatologists' opinion.

    Do you know it is your right to demand a second opinion with whoever you wish to see.

    What area do you live in?

  • Gloucestershire

  • I didn't know it was a right, no, that's really interesting to know. We're in the UK but I'd rather not say where we live, we're already having enough problems getting the help we need and I wouldn't want to jeopardise things any further.

    We had to ask a locum GP so that probably complicated matters, we weren't able to get an appointment with our own GP.

  • Snap! Seen a locum all the way through. Not had one gp appointment with her gp. Saw the locum once since hospital all other conversations have been telephone appointments. No one has physically examined her since July. Hopefully things are moving now the hospital is back involved.

  • As if watching a loved one suffer a serious illness isn't enough, it's compounded by the frustration at being unable to get some in the medical profession to take it seriously. I really do hope things are progressing now.

  • Hi

    I note you have mentioned Alpha 1 Antitrypsin Deficiency.

    I hope it isn't , but if she is positive I can steer you in the right direction for all info. If this is positive it is hereditary. Have any of your family suffered with either liver or lung problems, back through history?.

  • Not that I'm aware of but I am adopted so don't have a full history. My mother in law has tremors in her hands and a slight tremor in her neck, has had a cataract removed had fertility issues when young and has atheritis which is making wonder reading about Wilson 's disease if she has always had it and it's not been diagnosed. She always says it's nerves.

  • Well. bad day yesterday. She has recently started a desk based apprenticeship, and usually can manage half a day. I woke her up yesterday, and managed to get her breakfast etc. but after a shower she felt too ill and itchy to go in. She has made her skin bleed in places.I rang her boss to explain and let her know about the consultant and that she was awaiting a biopsy etc. She was not exactly sympathetic. She has asked her at work if she thinks it is all pyschological!! I wish it was. Anyway, no news back yet, from tests but a good nights sleep and has gone to work today. Does anyone else have a miracle cure for the itching? consultant just said to carry on with piriton (lasts about an hour if we're lucky) and we have tried oatmeal baths, Aveeno body wash Eurax, Aloe gel but nothing really stops it for long.

    Thanks Everyone.

  • I cant remember if they have checked her bilirubin levels? Have they considered ursodeoxycholic acid which is a medicine used when there is a problem with the bile ducts which causes itching. It can be used in children.

  • Yes billirubin high on last three tests. Last one 119.. will ask about this when we hear back from consultant. Waiting for the postman. Thanks x

  • The high bilirubin may be causing the intense itching. I don't know how the docs get bilirubin down, but in the meantime ask the docs about Urso as at that level of bilirubin my guess is antihistamines won't touch it apart from perhaps helping her sleep.

  • Hi Sam

    To be honest I don't thing your daughter should be in work. I don't think that the added stress will do her any good. Her condition is very serious, perhaps some light walking if she can and some rest would be better.

  • See your point sbout not working but it is an apprenticeship level 3 which she fought hard to get. Being at work does take her mind off things and it is very close to home and atm part time.Got her meds changed to coles tyramine today. Anyone else on this?? Biopsy next Friday x

  • Never heard of it but the medical literature recommends you combine it with a low fat low cholesterol diet, which will also be good for her liver. Hope it helps with the itching .

  • Hii there all. Seems a bit better less itchy and more energy. Was starting to wonder If she needs biopsy or not Friday. Then tonight she has been complaining she is cold (quite mild here) and she has just got changed and her legs from knees down are mottled looking and freezing. When you press they take a second to change colour so I'm guessing slightly swollen??? Any ideas??

  • Can't understand freezing but the pressing would indicate water retention possibly....

    In any event unless your doctor indicates no I think you probably want to have the biopsy done. From everything you've said there's certainly good cause to investigate what's going on - you definitely want to get to the bottom of what's been happening to her.

    Anyway Friday is not too far off now...

  • Sorry to read about your daughter. It reminds me of my ordeal. I fell ill in January. I kept vomiting so much, couldn't eat, had itcy skin, confusing episodes, angry, heart palpitations. The doctor first put it down to virus and then nervous break down. Until a month after not feeling better I became jaundiced. I used to be cold every time.

    Please push for a hepatologist. I was hospitalised first time locally who put it down to virus. Then when I went for regular blood tests requested by hematologist he readmitted me back in and put me on steroids. In the end they had to transfer me to a specialist hospital where I had a few days to live until I was put on the super urgent listing.

    Please just pressure them. Also update is when you can. I hope to hear positive posts soon.

  • absolutely gutted they couldn't do the biopsy because t they tried for three quarters of an hour and then gave up and send her home they tried for three quarters of an hour and then gave up and sent her home I think this must be connected to her circulation problems I have to wait for them to rebook now

  • Oh dear that must have been awful for all of you.

    What happened exactly? It's usually just a question of sticking a needle in the side although as an alternative they can go in through a vein higher up and thread a needle in to get a sample that way.....

    In your position I think you should get on to your consultant directly if possible and ask what the problem was and what they think they can do to either get a biopsy sample or work around the problem to get a diagnosis. Also depending on when they anticipate getting another biopsy scheduled you might want the consultant to see if they can assist in that regard.

    Best of luck...

  • Basically they wouldn't do it because they couldn't get a canulla in either hand ot her foot. They tried for 45 minutes and then said she would have to reschedule. She was also supposed to be having separate ultrasound which no one knew about. I have emailed the consultants secretary and asked if she can be admitted the night before next time and the canulla done then to avoid time restraints and asked what happened to the ultrasound. Doing everything in writing now. Too much time is being wasted. She is gutted as she had prepared herself for the procedure and wants answers and to get on with her life.

  • That's a great shame - hopefully it can be resolved next time.

    Personally - and I appreciate it may put you out but in your position I'd get in really early next time and get the canula done an hour or two in advance rather than trying to wait overnight.

    The ultrasound confused me a little. The usual procedure is to do the ultrasound simultaneously with the biopsy. The doctor uses the ultrasound image to guide the needle to where it needs to go.

    Purely FYI they guide the needle to the liver capsule - it's actually more like a harpoon in that once they get to the liver capsule they sort of "fire" the needle in to get the sample. It's a fairly quick process and there are no nerve endings in the liver but there are in the capsule so it often doesn't hurt although sometimes it can be a bit sore for a while - and sometimes you get an odd referred pain in your shoulder which lasts for a few hours. They do make you lie still on your side to assist healing though.

    Otherwise - for what little it's worth I completely understand the frustration. It is right to do things in writing - it'll stop the slippage.

    Anyway, do keep your chin up.

    Best wishes.

  • Hi Sam I have a condition called PBC and the worst symptom of it that i suffered with it was intense itch 24/7 the recent medicine you got the Questran powder does help if the itch is related to bile chemicals. PBC can be diagnosed with a simple blood test called Antimitrochondrial Antibody (AMA for short), raised LFTS and person being symptomatic of the disease. I never had to have a biopsy until much later in the disease progression after I had gone through a scarey time when i was pregnant with my second child when I went into a degree of liver failure. If I were you I would request this blood test to be done and a little tip is to make sure she is lovely and warm before getting the blood test done as if body cold very hard to get acccess to veins for tests or cannulas. Wish you and your daughter all the very best. P.S. if it is PBC fear not the PBC foundation are a wealth of help and support. pps Re taking the Questran I found the Light formula easier to take and taking one sachet before and one sachet after breakfast kept the itch more or less at bay during the day at least. Stress is not good as this makes the bile rise and the itch worse. Avoiding foods high in spices, sugar and fat and drinking at least one to two litres of water daily and avoiding or cutting back on things that have too much caffeine eg tea coffee chocolate, (also there is caffeine in cigarettes) all helps reduce the itch.

  • Thanks for your response. Hopefully we'll get the biopsy rebooked soon and get some answers from the consultant x

  • Hello there, it sounds like you and your daughter are really going through a difficult time. The Children`s Liver Disease Foundation is here to support families and young people with Liver conditions. Please check out our website for links to our services.


    Our charity Facebook page: facebook.com/CLDFonline?fre...

    Our Families Team on Facebook: facebook.com/families.cldf?...

    Our main website: childliverdisease.org/

  • Thanjk you. We eventually had the biopsy done on Wednesday,but the separate ultrasound wasn't booked si waiting for that now. Then got a letter putting her nect consultants appointment back by two weeks due to unforeseen circumstances. Just hate all the waiting. She has gained a bit if weight and is a bit less itchy but still has poor circulation znd gets oins and needles. Going to get in to gp for some more lfts as they haven't been done for over a month.

You may also like...