Getting a diagnosis on NHS as an adult

[tallpaul]

Hi,

How likely is it that my GP would refer me for genetic testing if i just make an appointment and say i've done some research and think i might have HFI based on the following?  Given the rarity of the condition i'm not sure my GP will have even heard of HFI so may not take this seriously.

• I'm in my late 40s and have never liked sweet foods.  If I do eat even a small amount of sweet foods i feel nausous / light headed.  I am however able to tolerate glucose tablets which got me round three marathons.  Excessively sugary drinks make me vomit (e.g. medicine syrups as a child, aftershockz as a young adult)
• I've done the 23andme test which came back as "not determined" on N334K.  According to their guidance this may either indicate a lab error or that i have the variant on both copies (their tests are supposed to be for confirming carrier status and i guess they aren't licensed to provide diagnosis).
• I have Gout which is controlled through Allopurinal but my uric acid levels are all over the place (i have read that HFI means that fructose raises uric acid levels).
• I have an accessory spleen and slightly low platelet count, i have read that HFI is associated with enlarged spleens, so wondering if this is related.
• Assuming i do have HFI then i assume there would be health benefits from trying to totally eliminate all fructose from my diet but if not then i would be better to continue to eat the few vegetables that i can tolerate to get close to the "5 a day".

Given the rarity of the condition i'm not sure my GP will have even heard of HFI so may not take this seriously.


If it's likely to be a hassle to go through my GP, i'm happy to spend a few quid for a private genetic test but haven't seen any advertised with prices in the UK and don't want to spend several hundreds pounds going to a specialist consultant.

Thanks for any advice.

[ukbill]

Sorry I thought I had replied to this last week.

1st you need to present your doctor with a request to be referred to a metabolic clinic. There are 25 around the UK but only 2 I know of who know or understand HFI at all. Birmingham and Addenbrookes Cambridge.

I know a few who use Addenbrookes (myself included) and who travel there from as far afield as Sheffield Cornwall and Stafford (myself).

I do not know where in the UK you live so cannot advise much further than that.
the Addenbrookes contact is "Gaff, Lisa" <[e-mail]>
send her an email introducing yourself and she will sort it out from there. The key consultant is Mr Deegan they are a really great dedicated team.
01223 274634
If you need contact details for Birmingham let me know and I will ask someone who uses their services, although you should be able to find them using google of course.. lol what would we do with out google these days?

[tallpaul]

Thanks Bill, I'm based in SW London so Addenbrookes is manageable.

Will talk to my GP once i get the result from GHC (see update on other thread).

[ukbill]

I know there is a central London clinic too. but I have not had any dealings with them so cannot say how good they are.
Inherited Metabolic Disorders Service
Lysosomal Disorders Unit
Box 135
Tel: [phone]
E-mail: [e-mail]
Pass the above to your doctor save him/her the problem of looking it all up.

[beverley]

Jan 25, 2024 8:40:52 GMT -5 ukbill said:

Sorry I thought I had replied to this last week.

1st you need to present your doctor with a request to be referred to a metabolic clinic. There are 25 around the UK but only 2 I know of who know or understand HFI at all. Birmingham and Addenbrookes Cambridge.

I know a few who use Addenbrookes (myself included) and who travel there from as far afield as Sheffield Cornwall and Stafford (myself).

I do not know where in the UK you live so cannot advise much further than that.
the Addenbrookes contact is "Gaff, Lisa" <[e-mail]>
send her an email introducing yourself and she will sort it out from there. The key consultant is Mr Deegan they are a really great dedicated team.
01223 274634
If you need contact details for Birmingham let me know and I will ask someone who uses their services, although you should be able to find them using google of course.. lol what would we do with out google these days?

[beverley]

I'm 60 years old and was born with HFI as were my two brothers it was passed down from my dad ... my mum had some idea from very early on as my dad soon realised that we all had it. I have never eaten fruit as I can't tolerate the sweetness infact I don't eat anything with any kind of sweetness ie chocolate, cake,biscuits... the foods years ago were much easier as it was mostly fresh unlike today .. so our diet consisted of green veg not peas, meat,shellfish,ofal,mushrooms,dairy ... I have never drank alcohol as mixers are all sweet .... There was one Doctor who has spent many years studying this professor Timothy Cox at Addonsbooke hospital Cambridge ... I hope this helps
Beverley

[ukbill]

That Clinic in Cambridge was set up by Prof Tim Cox and yes he is still involved in HFI research and helping people.