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General health

Metabolic disorders services?

17 replies

AngelDog · 16/10/2013 21:28

This is a bit of a long shot. I am looking for recommendations for a metabolic disorders specialist, preferably NHS but will go private if necessary.

Basically my digestion has stopped working to the extent that I am more or less malnourished and kept alive by a battery of dietary supplements which I'm paying for myself. I have become intolerant to most foods.

I've had some private tests which indicate substantial nutritional deficiencies and likely mitochondrial problems. My GP is sympathetic and is doing blood tests for things like B12, folate, coeliac, thyroid etc, but has no idea who to refer me on to.

Most referrals to metabolic specialists would come after an acute crash and A&E visit and I've managed to avoid that so far.

Any ideas?

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QueenofWhatever · 17/10/2013 19:43

Depends if I've understood what you mean by metabolic disorders. I have a hereditary one, and am asymptomatic. I discovered this when my DS was born, and was very symptomatic. I'm based in Bristol, and we had excellent NHS care.

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AngelDog · 17/10/2013 22:50

Thank you. I have no idea if this is hereditary and has been kicked off by events or is purely 'environmental'. I think vitamin B12 depletion due to gas & air in labour was a big factor - DS1 and DS2 have the same problems and DS1 got noticeably worse after having gas & air for a minor op age 2.5 y.o.

What was the hospital you were seen at?

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QueenofWhatever · 18/10/2013 13:40

I was seen at the BRI and the children's hospital, both part of University Hospitals Bristol. I can't understand why your GP doesn't know what to do. A referral to a gastroenterologist would be the obvious next step. You certainly don't need to go private for this.

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candycoatedwaterdrops · 18/10/2013 19:05

I agree, I would think that a gastroenterologist should be your first port of call.

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AngelDog · 18/10/2013 20:09

Thank you. I think he is unsure because of wanting to find someone who'll take the results showing mito problems seriously - he thinks most gastros he knows about will dismiss that out-of-hand.

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candycoatedwaterdrops · 18/10/2013 20:33

Have you had a colonoscopy?

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AngelDog · 18/10/2013 21:09

No, just a few blood tests for things like thyroid, B12, folate etc - but not had any results yet.

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candycoatedwaterdrops · 18/10/2013 21:49

Given that, you definitely need some investigations first.

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Lizzabadger · 19/10/2013 06:05

I can recommend an NHS service in London if that's any good.

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SidandAndyssextoy · 19/10/2013 19:58

Where in the country are you? There are only four centres of expertise in metabolic disease in the UK at present, although many hospitals will have a small number of staff dealing with diagnosed patients. I only really know about paediatric services, but my understanding is that adult mitichondrial research is led by a unit in Newcastle, under Professor Turnbull.

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Ragusa · 19/10/2013 22:05

I can't recommend a doctor as such but have you tried the charity, Climb? They may be able to steer you in the right direction.

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AngelDog · 19/10/2013 22:28

If you could let me know the details, Lizzabadger, that'd be helpufful please. I have a feeling I could end up going round all kinds of different services over the next little while, and it's useful to be armed with ideas in advance.

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Lizzabadger · 19/10/2013 22:57

Pmed you

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AngelDog · 20/10/2013 00:48

Thanks. I did contact Climb, but they wouldn't/couldn't suggest more than to go to my GP.

I'm in Herts, so anything in London is easy to get to. Our GP is trying to get DS1 seen at GOSH though whether they will is doubtful as they don't normally accept GP referrals.

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candycoatedwaterdrops · 20/10/2013 11:42

I have a fab gastroenterologist in Herts. I'd recommend him, he can always refer you on?

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AngelDog · 20/10/2013 17:29

Thank you, candycoated. :) Could you let me know his details please?

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candycoatedwaterdrops · 20/10/2013 18:39

Just sent you a PM.

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