Finding a metabolic specialist

help with getting a diagnosis

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Finding a metabolic specialist

Postby Sophie1999 » Sun May 08, 2016 10:12 am

Hello,

I'm just wondering where or if you guys have been sent for metabolic testing anywhere in he UK? I have had a TMAU urine test done and the results suggest type 1 (although I have only just had symptoms in the last year not since birth), so I am currently waiting to be referred for DNA testing to confirm this result. My GP has sent a letter to addenbrokes hospital in Cambridge, but I am unsure if they actually do the testing as, after having a quick look online, I don't get any answers. Does Dr Lachmann refer you for DNA testing or does he just test urine again?

Many thanks!
Sophie1999
 
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Re: Finding a metabolic specialist

Postby Lisa » Sun May 08, 2016 11:46 am

Hi,

I'm sure Dr. Lachmann does, and maybe Nigel Manning in Sheffield.
Google them and contact details will be available.
Good luck. x
Lisa
 
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Re: Finding a metabolic specialist

Postby PoetFire » Sun May 08, 2016 5:45 pm

Many regions have a 'Adult Metabolic Disorder Unit' (I think)
I am aware of London, Bristol. Birmingham, Cardiff, Glasgow, Manchester who are aware of TMAU at least.
All of these can sanction the DNA test.
10 years ago probably none or 1 would have been aware of TMAU.
Not sure about other areas, but I sense the NHS consultants may occsiojnally meetup and this is how TMAU awareness may have spread among them.

TMAU awareness in UK is all down to Nigel Manning at Sheffield.
He contacted Dr Lachmann so that a consultant would be aware of TMAU.
Since then it seems to have spread in the UK metabolic units.

I think Lachmann may only see people in his area (not sure)
It would be interesting to see if Addenbrookes are aware (or see adults).

I think for most of us its a case of finding the regional Adult Metabolism Unit (or whatever name they call it)
PoetFire
 
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Re: Finding a metabolic specialist

Postby Sophie1999 » Mon May 09, 2016 8:47 pm

Thanks for your response guys. I am going to call addenbrokes tomorrow and see whether they have received my referral letter, if not I will get back to my GP and ask to be referred to one in London that I know have an understanding of the condition! Getting very frustrated at the length of time it takes to get answers! Especially when I'm so confused as I have only recently developed symptoms but my urine results suggested type 1?! :?
Sophie1999
 
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Re: Finding a metabolic specialist

Postby PoetFire » Mon May 09, 2016 10:13 pm

Dr Lachmann details
http://www.uclh.nhs.uk/PandV/Choosingou ... /Home.aspx
https://www.uclh.nhs.uk/OurServices/Con ... hmann.aspx

I think a lot of people will be in the TMAU1/2 and have no interfering smell until maybe some point in their life or maybe not at all. By that I mean genetically 'mild' cases which can be around the borderline.
PoetFire
 
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Re: Finding a metabolic specialist

Postby Sophie1999 » Tue May 10, 2016 9:59 pm

Thanks for your response! It's such a frustrating condition! I am unsure if I have TMAU or not, praying I don't..

For example, I have just been at the gym for spin class, and luckily I am able to detect my odour, but whenever I do exercise there is no odour?! In fact I feel my least smelly when I sweat! I got a lift home and no odour even in a confined space. But then I can be sat in my room and suddenly I'll get a burst of odour, so strange. I also have post nasal drip so that probably isn't helping the situation. Sigh! How long have you suffered?
Sophie1999
 
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Joined: Thu Feb 04, 2016 1:24 pm


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