Diagnosis

help with getting a diagnosis

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Re: Diagnosis

Postby Lisa » Wed Jul 21, 2010 4:25 pm

Hi,
I had to pay £160 to my GP for this test, for it to be sent to Dr. Manning. I have been referred to Dr. Lachmann, where, hopefully, I wont have to pay for my 2nd test.
Lisa
 
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Re: Diagnosis

Postby smelly » Wed Jul 21, 2010 10:35 pm

Jeez! And the NHS is still reckoned to be 'free at source' ....ahem....

The up side is that you will be under the care of the world leader (probably!) in this condition so from now on put your feet up chuck and do what the doctor orders! :lol: (and tell the rest of us what he says heeheeee!)
smelly
 
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Re: Diagnosis

Postby Lisa » Thu Jul 22, 2010 11:23 am

Lol, will do. World leader huh? That'll do for me. :D
Lisa
 
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Re: Diagnosis

Postby merkap » Sat Sep 25, 2010 7:11 am

Asked my lady doc some days ago to issue a referral to this TMAU expert in our nearby hospital.
I am now officially handled by our National Healt System and It will be interesting to see how they are dealing with me and my disease.
My doc emailed me the scanned copy of her referral and I am looking forward to the meeting with this expert.
Some questions about genetherapy is prepared by me but I am grateful to receive suggestions on what i should ask this TMAU expert, ideas is welcome, please?

Now waiting for the appointment letter, the snailmail box is checked here...
merkap
 
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Re: Diagnosis

Postby smelly » Sat Sep 25, 2010 7:35 pm

Hi merkap,

I would jot down all the treatments people have mentioned on this board and go through each one with the specialist. If you get the feeling they dont know much more than you, (or maybe even less!) I would produce a copy of the scientific paper linked to this site and the contact details for Dr Lachmann in London, so that they can get themselves up to speed with what is known in Uk on this subject, so you dont miss out!

I still cant believe that they charged you for sniffing a test tube. What if they had a cold and couldnt smell one day, do all the results get sent out as negative? :?
smelly
 
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Re: Diagnosis

Postby merkap » Sun Sep 26, 2010 10:50 am

Thank you for your input, smelly.
Have read up on the FAQ:s. and also copied the URL:s mentioned here on the site.

Yes, I think the sniffing in the test tube presented a shortcut to a diagnosis and can in fact be treated as an educated guess about my illness.
And the hand written diagnosis from the sniffing doc is not up to par in the year 2010.
Have copied that fuzzy little piece of supreme scientific creativity and will show it to the specialist, just to see his reaction. (Sorry, could not upload a miniature of the picture here!)

A sniffing doc with a cold is in this case not worth even €0.01 and that can be understood when reading:
http://www.ncbi.nlm.nih.gov/bookshelf/b ... ylaminuria
where a sniffed diagnosis is commented as follows (quote):

Diagnosis based on the sense of smell of the examiner is complicated by the following:
*The presence of the odor is often episodic and thus may not be noticeable when the person is examined.
*The human nose is normally very sensitive to trimethylamine, with some individuals being able to detect
concentrations as low as 1 part in 109; however, olfactory testing is subjective and some people are unable to detect the smell of trimethylamine.
*The odor may be caused by compounds other than trimethylamine.


At the visit to the specialist I will suggest a DNA test - as a base to evaluate the risk for my children to inherit this awful genetic deficiency. Hope he will approve because if I am in the NHS care I think the DNA test will be free.
And then I have some documentation to show my children when I talk to them.
But I don't precisely look forward to those talks, as TMAU can not be cured at present I am a little afraid of their reaction.

The snailmail box is still watched here...
merkap
 
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Re: Diagnosis

Postby merkap » Sun Oct 03, 2010 4:35 am

A confirmation letter arrived the other day, the hospital have now received the referral from my GP.
My appointment will be scheduled whithin three months they say.

The regulations are that you are entitled to see a doc within 3 months from the referral. And 3 months it is then... :roll:
merkap
 
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Re: Diagnosis

Postby merkap » Wed Nov 17, 2010 6:43 am

Positively surprised today, got a letter yesterday from the hospital. The specialist doc wants to see me the second week in December.
But they tell me to visit the lab for tests today, think they need time to evaluate the test results before I meet the doc. And I also got a new plastic test tube to fill with my merchandise and bring along. They are talking about a metabolic investigation (“u-organic acids”), whatever that is. Testing nine different chemical compounds in the blood, among them Ca, Ka, Na.

Well, I have to take back what I said about those three months, the waiting for the consultation will not be three month`s, it looks like it should be just two and a half month. :D

Sipping my tea – it is allowed, but no food – and watching my burning candle in this dark morning I will wait some more before I start my travel to the lab. They warned that the waiting time is long in the mornings and it is better to go there later in the day.

The outside temp is minus 18 Celsius at the moment and the candle gives both some light and warmth. The candle is also cleaning the air somewhat I have noticed, not resulting in fresh rose smell exactly but better than this BO of mine.

Have to go down to the heating division in the house and reload with firewood before I leave so the house does not get cold during the day.

Todays lunch will be nice after the visit at the lab, think I will have something warm…

Take care, all.
merkap
 
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Re: Diagnosis

Postby kittycat » Thu Dec 16, 2010 11:38 pm

Hi mercap

I've been wondering how you got on with your quest for diagnosis.... Have you been to see the specialist doctor yet? And did you ever find out what u-organic acids and Ca, Ka, Na, are?
I really enjoy your posts, they're very atmospheric. I read the last one, very early ,in my darkened room and I was emotionally transported to the Artic Circle!
I wish you well, love kittycatx
kittycat
 
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Re: Diagnosis

Postby merkap » Fri Dec 17, 2010 11:01 pm

Thank you kittycat, for your kind post!

Yes, I met with the doc and we had a relaxed chat. We also discovered some common interests and he was a nice guy to talk to even if he was dressed in white. :D

Diet, probiotics, antibiotics and activated coal was mentioned but no recommendations was given at this stage. The blood tests he previously ordered was ok so far, all figures are within limits.
And on my question about a DNA test he answered that he will await the result from the urine test no 2 and take it from there.
Hope they will use a more scientific test method this time (it's the same lab!) and I poked the doc about TMAU1 and TMAU2 to induce some ideas.
I also gave him some printouts with info about TMAU from the net, think he will have a lot of surfing on the net to do if he is inclined.

Now awaiting the next step from the doc, the snailmail box is watched here.


The temperature outside this evening is minus 9 Celsius and this front with warmer weather brought some snow, we got about 30 cm of the white stuff last night and the wind have blown it to hard drifts.
Today I have been out for three hours shoveling snow - luckily with some engine help.
But the mythologists are promising more snow during the weekend, about 20 cm. Will see about that, they have been proven wrong before.

Take care, sweet kittens and all of you out there.
merkap
 
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