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Metabolic disorders services?

(18 Posts)
candycoatedwaterdrops Sun 20-Oct-13 18:39:06

Just sent you a PM.

AngelDog Sun 20-Oct-13 17:29:49

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

candycoatedwaterdrops Sun 20-Oct-13 11:42:49

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

AngelDog Sun 20-Oct-13 00:48:01

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.

Lizzabadger Sat 19-Oct-13 22:57:54

Pmed you

AngelDog Sat 19-Oct-13 22:28:00

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.

Ragusa Sat 19-Oct-13 22:05:58

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.

SidandAndyssextoy Sat 19-Oct-13 19:58:34

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.

Lizzabadger Sat 19-Oct-13 06:05:28

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

candycoatedwaterdrops Fri 18-Oct-13 21:49:47

Given that, you definitely need some investigations first.

AngelDog Fri 18-Oct-13 21:09:53

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

candycoatedwaterdrops Fri 18-Oct-13 20:33:19

Have you had a colonoscopy?

AngelDog Fri 18-Oct-13 20:09:03

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.

candycoatedwaterdrops Fri 18-Oct-13 19:05:09

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

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.

AngelDog Thu 17-Oct-13 22:50:51

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?

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.

AngelDog Wed 16-Oct-13 21:28:33

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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