The PBC genetics study!!!!

Hello everyone, hope everyone is doing good, well as good as we can do with this disease!!!!!

Anyway im a 41 year old female ,I was diagnosed with this back in August after a year of visiting my GP and basically harassing them with my problems, my blood results were high for over a year, and getting higher every time I went, appart from the GP telling me to stop drinking ( which I'm tea total!!!) being asleep for upto 16 hours a day, joint muscle pains( for many years , but anyway enough of my rambling, the reason I'm writing this is because I received a letter from my hospital asking if I would like to take part in a genetic study to help researches help find more effective treatments for this disease!!! So I'm wondering how many of you have received this letter after your diagnosis or recently, and if your going to take part in the study ? ........I have replied yes, to the study as I feel that maybe they could help more than the specialist do , ie more in depth investigations , staging of the disease, and other conditions related to it!!!!

This site has given me lots of information , and also possible other underlaying conditions which I wouldn't of though was because of the PBC !!!! I olive everyone's blogs , questions and read it about 4 times a week!!!! And would like to say thank you to the website and all it's users !!!!

7 Replies

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  • Hi sjr1

    I have not received a letter but I have taken part in research that I read about in the PBC foundations Bear facts newsletter/magazine. The research I took part in was looking for patients with PBC to aid in research to identify genes which may be associated with the condition - whole genome scan. The research consisted of completing a questionnaire and suppling either a sample of my saliva or a sample of blood (which you could have taken at GP's).

    I personally believe that providing a sample of my saliva and answering a questionnaire is not too much to ask if it means it may some day help to find us a cure. The more people that take part the more chance of it succeeding.

    good luck and best wishes

  • I too have taken part, the more I to they can get the better x

  • i too have taken part in this study and also heard about it through the PBC foundations newsletter Bear Facts. have answered 2 questionnaires and sent one sample of blood as dry mouth made it difficult to fill the saliva tub. Not much hassle to help science to help us.

  • Do please consider becoming part of the genetics study! At the PBC Foundation Conference in Basingstoke this year the doctor carrying out this study gave us a splendid and encouraging talk about the amount learnt so far. The more research that is done the more chance there is of a cause being found and a treatment being available. Stay positive sjr1! A lot of us are going through this with you.

  • I never received anything after going to the hospital last 2011.

    My GP surgery, well little said there the better I think. I recently wrote to the GP surgery about my issue each time of trying to get the simple blood print-out. This was on 5th Nov when I handed the letter in personally. Despite their surgery policy of acknowledging your issue/complaint within 48hrs., I received nothing and handed in another letter with copy of the original 22nd Nov and only yest did I receive a rather daft letter back to which I am left fuming as the apology at the end for the delay has been, excuse after excuse:- 'attempted to ring', 'GP on holiday' and then Practice Manager herself 'on leave' and finally that she 'had a busy workload' meaning to me I am vastly unimportant!

    So I can't see my own GP surgery even bothering about anything like this study or even asking me in person as I've yet to got to get someone to actually look at the GP leaflet from the PBC Foundation!

  • Peridot, I'm not doing much better here, with vertigo, I go to see my PC, she says she can tell if I have an inner ear infection. She tells me if not better after.....10 days....she said she would send me to an ENT. I couldn't take the head ache, ear ache and dizziness any longer after 7 days and began calling her office, which after 3 days,.... I said I HAVE to see someone! Later one of her workers called to see how I was doing...I complained to her. I said I was disappointed I had to call for 3 days, to see and ENT.

    After the vertigo my BP kept changing, I caught a virus from company, got up in the middle of the night, staggering around and jammed my foot in the door.

    I couldn't walk on it. So back to her I went again. She gave me an antibotic for the viral thing and coughing, but wouldn't even look at my foot! She said the BP changes are because I've been sick. Yesterday morning my BP was 72/52 and a couple of wks ago at one time had hit 147/72. I did the foot thing on Nov. 12, and I still cannot wear a shoe. I know they can't do anything for a broken toe, but what if was another broke bone in my foot. Do you think maybe I should find another PC?! Sorry about my rant, but it took me yrs to get a diagnosis for the PBC and Fibro and I think the vertigo thing will be as those. I'm sure all the Drs I saw had me pegged as a hypochondriac.

    Magnolia

  • Hello Magnolia.

    Well prior to 2010 I rarely went to see my GPs I'm not that happy about going now but go when I am requested to do so.

    But I do wonder why I bother as I don't seem to get anywhere when I do go. I seem to have got stuck with a GP who gets the blood results and then who reads them but to me he seems a doctor who wants to tell you what he wants to do or you should do but at the same time doesn't seem to regard a thing that you say to him.

    I think some doctors as there are some good ones out there, it is just finding them (!), don't seem to think that some patients do want to know what is going on with them and unfortunately I'm one of the nosey and quizzical ones (due to past experience with my late first husband. Back in the 1990's I did some research trying to think what my husband then was suffering. I stumbled across Addison's Disease and mentioned to his doctor who fired at me how did I know about such a thing. The sad thing was that when my husband died several months later and he had a post mortem it was disclosed to me that in fact he did have Addison's. One reason now with my own health I want to know what is going on).

    I intend contacting my Practice Manager again with regards to this latest letter that she has finally replied back to and then once that is sorted, I do intend to change GP surgeries in the new year. You may think your Drs have 'pegged' you as 'hypochondriac' I think mine have pegged me as neurotic!

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