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help and advice please re my son's diagnosis

Posted , 19 users are following.

lexi
lexi

My 14 year old son has been very poorly for over a year. He currently is wearing age 11 clothes that hang off him yet a year ago at 13 was a tall beefy lad in 15 year olds clothes. After being fobbed off constantly with 'its a vrus' I put my foot down and demanded test after test after test to find out what was causing the following symptoms: -

Constant nausea before after and during food, extreme weight loss, extreme fatigue, depression, lack of concentration, dizziness, inabilty to do sports at school, school work slipping, lack of interest in life, loss of his inner sparkle, constant tummy ache, rib pain, constipation, constant thirst, constantly cold etc

Finally diagnosed with Gilbert's syndrome (his late paternal grandfather had it - I am divorced from his father and have little contact with his family so no help there), told by doctor there are no symptoms, no cure, no treatment, no need to worry. They gave him antacids, offered him a counsellor in case he was beiong bullied and/or worried about anything and sent us home,

NOT GOOD ENOUGH!!

We went to the docs because he was ill, they found it because he was ill, not by accident. All the websites i habe looked at say - NO SYMPTOMS!! But occasionally mild nausea etc etc etc but maybe its brought on by the anxiety of having a disorder. My arguement - he was ILL first and the symptoms are not mild.

Please help - I cant bear the thought of my son feeling this way for the rest of his life. Are there specialists he can see - does anybody care, is this the first time this (young) doctor has come across this or will all doctors be so unhelpful about this condtion. What can I do - does awareness need to be raised. Hasnt a doctor ever had this illness so they can say - actually its life controlling - bloody awful and I dont feel very well????!!!!

Any advice, help, experiences, anything are so so welcome, my son said tonight if I have to live like this forever please dont let me live to be 80 x

1 like, 32 replies

32 Replies

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  • Biometric
    Biometric lexi

    Posted

    Hi Lexi

    Hope things are now going well for you and your son.

    I have GS and am a doctor myself - in fact some of the work I've done is referenced on a number of patient.info pages - field totally unrelated to GS though. Just wanted to post to let you know that there has been an explosion of interest in GS over the last few years with the realisation that it seems to confer a degree of resistance to atherosclerosis (heart disease and stroke); one paper even reports a mortality rate of half that of the general population (adds quite a few years to your life!). So there is a positive side. Most authoritative legitimate medical websites now acknowledge that symptoms are common in GS, even if it's only 'may complain of feeling tired all the time'.

    Certainly I can wake up feeling lousy, but I've found that keeping my fat intake to a minimum keeps things under reasonable control. Chips and crisps and other deep-fried foods, especially if eaten in the late evening, are the worst by far for me and can make me feel miserable for a couple of days. If I keep off fat strictly for a day or two I feel great, but this is difficult!

    I'm reasonably confident that as awareness of GS being symptomatic filters through into the wider medical community acceptance will get easier, and I suspect more research will be forthcoming anyway.

    Your son's remark that he didn't want to live feeling like this forever certainly strikes a chord with me - before I got to grips with the GS (I'm 50 now - symptoms started at 25), I used to say similar things to my wife: 'is this what the rest of my life's going to be like - doesn't seem worth it' was a refrain. My impression is also that GS predisposes sufferers to fatty liver disease, which compounds things and means it's probably a good idea to shed any excess pounds - I lost 3 stone and it made a huge difference - used to have severe itching and night sweats - actually only realised it was Gilbert's rather than fatty liver disease alone when genetic testing became readily available and I had several qualifying mutations. 

    Took me years to work out what was wrong with me and how to manage it. In a nutshell, avoid McDonald's, avoid alcohol, don't get dehydrated and avoid over-exercising.

    Best wishes

    Biometric - apologies for anonymity, but don't want patients and colleagues to be aware as I try to present a positive front despite the symptoms.

    • reece77
      reece77 Biometric

      Posted

      Hi Biometric,

      I was very interested to read your comments and reply to Lexi. And i am pleased to hear this from a practicing doctor. I believe that the research and awareness about GS is now starting to increase finally, however every GP and specialist that i have gone to here in Australia has denied any relationship between the symptoms and GS that i have.

      I haven't carried out genetic testing yet, however i am a geneticist that works on other systems, so when i find the time i would like to. Although i am almost certain that i have GS due to the consistently elevated unconjugated bilirubins in the blood tests and my mother also has the condition. I expect that it is the typical UGT1A1 promotor region mutation (if considered a mutation), as i am from Northern European descent but It would be interesting to identify the exact allelic variant responsible.

      I was especially interested to hear about your severe itching and night sweats. I too have suffered badly from these. I thought that the itching had to be related to yeast, but it always coincided with an GS episode. Yeast infections are noted on some of the Gilbert's Syndrome websites but they typically mention Candida, and not others like Malassezia sp.

      Do you believe that the GS symptoms are at their worst during early adulthood and gradually become less severe? Is there any sex bias, not in the presence or absence of GS, but in how the symptoms express themselves?

      I have taken up triathlon in the last two years and i believe that had been the trigger of the more debilitating GS symptoms, due to the increased emphasis of aerobic training that triathlon entailed. Is there anything out there that can control this during hard training regimes? i have heard that there is something professional cyclists use.

      I would be very interested in hearing from you if at all possible.

      Reece

    • Biometric
      Biometric reece77

      Posted

      Hi Reece

      I don't know for certain that I have the repeat promoter gene as I wasn't tested for that, but have a strong marker that is in very close linkage disequilibrium with it, as well as two others.

      Re the night sweats and itching - these were severe, but improved rapidly as soon as I started losing weight so were undoubtedly closely linked to the excess kg. As I noted, I wonder if some of the symptoms were actually due to fatty liver disease and I have a strong suspicion that due to fat metabolism issues GS may predispose to this. Itching is of course a symptom of several different chronic liver diseases, and may be linked to high bilirubin levels but the precise mechanism isn't defined, I believe. I think it's unlikely that general itching in a liver-type pattern (shins, abdomen, sometimes forearms) is related to fungal infection.

      My symptoms were worse in my twenties and thirties but I suspect this was due to poor diet with a heavy junk food component - my wife and I was always really busy and too stressed and tired to bother cooking but have kids now so more motivated to eat healthily. Went through a time in my late thirties when I'd wake up feeling ill every two days or so and before I worked out about GS thought I probably kept getting bugs from patients.

      Not sure about the gender bias, though some authorities suggest GS is more common in males.

      The training issues - not sure. From forums have heard of people using liver herbal remedies they find helpful such as 'A. Vogel Liver Drops' and 'Essentiale Forte' - you can find these on the internet. Don't seem to do anything for me. When I feel really lousy, usually after McDonald's fries or similar, I take an ibuprofen/codeine combo and this works pretty well, but some people hate the codeine element.

      Hope this is helpful

      Biometric

    • MikeG1980
      MikeG1980 Biometric

      Posted

      Thank you reece and biometric for your comments. I found them both very interesting. 

      I also seemed to become more symptomatic when I was training, my bilirubin levels at that time were approx 65 - 70. Is the anaerobic exercise responsible for more haemolysis and therefore the elevated bilirubin? 

      I randomly suffered a mild tendonitis  that stopped me running for a few weeks and a repeat blood test showed my bilirubin levels to have dropped back to the mid 40's. Would glucose gels and adequate hydration allow for more intense training and prevent spikes in bilirubin.

      On a separate note, have you guys considered forming a network to do a meta analysis  of the papers found on pub med, with a view to publish any results. I think that having a collaborative group with knowledge of interpreting/comparing/contrasting of the data by those with a personal attachment to the subject, could be interesting.

      I will nevertheless try to find A.vogel liver drops or essential forte to see if any difference is noted.

      Regards 

    • MikeG1980
      MikeG1980 Biometric

      Posted

      Thank you reece and biometric for your comments. I found them both very interesting. 

      I also seemed to become more symptomatic when I was training, my bilirubin levels at that time were approx 65 - 70. Is the anaerobic exercise responsible for more haemolysis and therefore the elevated bilirubin? 

      I randomly suffered a mild tendonitis  that stopped me running for a few weeks and a repeat blood test showed my bilirubin levels to have dropped back to the mid 40's. Would glucose gels and adequate hydration allow for more intense training and prevent spikes in bilirubin.

      On a separate note, have you guys considered forming a network to do a meta analysis  of the papers found on pub med, with a view to publish any results. I think that having a collaborative group with knowledge of interpreting/comparing/contrasting of the data by those with a personal attachment to the subject, could be interesting.

      I will nevertheless try to find A.vogel liver drops or essential forte to see if any difference is noted.

      Regards 

  • lexiemae1980
    lexiemae1980 lexi

    Posted

    I have Gilberts Syndrom and I have beaten the symptoms by juicing vegetables every morning (on an empty stomach), I honestly think doctors say people have Gilberts Syndrome when they run out of ideas.  Have your doctor do a liver - billiary scan.  It scans the function of the liver and gallbladder.  Just because the gall bladder doesn't have stones, it doesn't mean it is working.  All of me sisters were diagnosed with Gilberts Syndrom and then they had the billiary test done...Their gallbladder were working at 10 percent or less. Each had theirs removed except me...i chose to eat really healthy, do the Master Cleanse once a year and work out.  Once you put your son on fresh vegetables juice (using a masticating juicer - any other will cause him too much gas pain) he will gain weight and have more energy.  Also give him mangos, it regulates weight. I hope that helps.
  • lexiemae1980
    lexiemae1980 lexi

    Posted

    I have Gilberts Syndrom and I have beaten the symptoms by juicing vegetables every morning (on an empty stomach), I honestly think doctors say people have Gilberts Syndrome when they run out of ideas.  Have your doctor do a liver - billiary scan.  It scans the function of the liver and gallbladder.  Just because the gall bladder doesn't have stones, it doesn't mean it is working.  All of me sisters were diagnosed with Gilberts Syndrom and then they had the billiary test done...Their gallbladder were working at 10 percent or less. Each had theirs removed except me...i chose to eat really healthy, do the Master Cleanse once a year and work out.  Once you put your son on fresh vegetables juice (using a masticating juicer - any other will cause him too much gas pain) he will gain weight and have more energy.  Also give him mangos, it regulates weight. I hope that helps.  For the workout I avoid cardio at all costs and only lift weights.
  • annette1313
    annette1313 lexi

    Posted

    Hi lexi,

    My son has exactly the same symptoms as your son.  I am hoping that your son has made some improvements.  

    If you have had any good advice since posting on this site I was hoping that you might share this.

    Thanks

    Annette

  • jen01747
    jen01747 lexi

    Posted

    Hi have you looked into stem cell where they do Liposuction and treat your own cells to get clean and really strong and multiply them and inject them back to give you a strong immune system to fight infection but and Also include as many superfoods and vit and minerals good ones for liver gallbladder and stress are any combinations ofbroccoli,dandelion,radish,beets,tomatoes,cucumber,celery,spinach,kale,blueberries,strawberries,pineapplewatermelon,pomegranate,;sesameseeds,ginger,turmeric, mineral tablets ,cacao (raw) bee pollen ,kelp, make sure tocheck out stem cell dr he has high sucess rates It has helped me by about 90%
  • misswoosie
    misswoosie lexi

    Posted

    Hi Lexi,

    I've just been researching Gilberts, and it appears that there are 3 other conditions that involve the absence of the enzyme UGA. Do you happen to know what your son's Bilirubin level was/is?

    I'm so sorry you're son is so ill. You must be demented. I am wondering if they've just "fobbed you off" as soon as they found the raised bilirubin, and in actual fact there's something else going on? In fact, I wonder that with a lot of the people that are posting on here that thye have Gilberts. The Docs found a blood etst that was abnormal and couldn't get them out of the door quickly enough. Like you said, your son was going to the Doc because he's ill, so giving a diagnosis of a disease that doesn't (according to most of the literature!) make someone ill, isn't helpful.

    Have they done full anaemia screening ie Ferritin, Iron, B12 etc etc and thyroid function? I hope the anser is yes. There's nothing else they've found abnormal in the tests they've done

    What was the history of him becoming unwell. Had he had an infection or virus or been given a General anaesthetic/ been taking any medication? I don't wish to insult either you or your son, but what about any caffeine based energy drinks/Coca Cola /recreational drugs/alcohol? Does he take paracetamol for pain?

    Literature does say people can have an increased sensitivity to substances that are metabolised by the enzyme that is absent in Gilberts

    Try googling Crigler Najjar Syndrome. The type 1 is pretty fatal and found in newborns but not sure how ill type 2 can make someone as not done enough reading yet

     

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