Gene testing in England

[charlie]

Hi bill and anyone else in England,

Can't remember if you were gene tested Bill but found when googling symptoms for nlfitness a site about genetic problems and a list for gene testing for HFI and it looks like they do it at Addenbrookes Hospital in Cambridge. There is a list of other places in the world too so I will try and link to that page.
www.ncbi.nlm.nih.gov/sites/GeneTests/lab/clinical_disease_id/2832

[tikitavi]

Thank you for this link! Very helpful!

[ukbill]

Thanks Charlie I had missed this posting.

I will look into it.

[carolyn]

Thank you Charlie. How do we go about getting checked? I was initially advised to go for genetic counselling & have children checked also as potential carriers, but told by the most arrogant gastroenterologist in the world to cancel the appointments as HFI was so rare, of course I didn't have it! Still think I & children need to know.
Cheers
Carolyn

[buddhasbelly]

Hi Charlie, thank you so so much! I have an (long awaited) appointment at the end of this month with the geneticist of my treating hospital to talk about a HFI test. As far as I knew genetic testing of HFI was not done in the Netherlands, so I was preparing for a difficult conversation. Now this page showed me the way to the only hospital that dóes do the genetic tests. I was so worried my samples would have to go abroad and the testing would therefore not be covered by insurance; or worse, that with Dutch sobriety the doctor would not take the idea seriously if it wasn't even researched in the Netherlands. Your link brought me much relief, that - although it doesn't look like it - this disease dóes also exist in the Netherlands. :-) bye!

[charlie]

Hey, thats great news, glad it has helped. Its amazing what you suddenly come across with some sideways googling. There seem to be a few people springing up from the Netherlands recently so you may be not as alone as you think!!!!

Carolyn, I don't know yet how we get checked in Britain, I will contact them this week to see, had hectic few weeks with Dad in hospital so not followed it up yet. Yes, I think you are right you do need to know and your kids, that is so unreasonable of the gastro to say that. Unfortunately in Britain they really don't know much at all about it, I was told Megs definately not HFI because liver tests were fine, I did point out they tested those a year after she stopped virtually all fructose. ...We definately need to do more education on it. She may not have HFI but FM but to be honest everything pointing more to HFI at mo.

[charlie]

Amazing, emailed the addenbrooke contact yest afternoon and got really positive response back this morning. They have sent me details of the gene test and a request form that I can take to Megs consultant. Basically they need a referal they won't take requests from patients and it needs to be from gastroenterologist or metabolic consult. Well we have both so feeling positive may get somewhere. They have also forwarded my email to HFI centre in Southampton so be interesting to see if we get something from them.
Addenbrookes will test those displaying symptoms but also potential carriers. You can get it done privately with referral too.
Feeling really positive about this, especially as Meg seems to have major reaction today. Could be eggs from weekend, could be poached raspberries (as they ok on FM food list) or what she ate yesterday most likely as went to a friends and didn't realise she had chomped through a particularly sweet chocolate cake!!! Anyway, I'm glad she did as she reacted at school, felt sick, then was sick, then ok, then they discovered her sitting in the office all blank having wet herself whilst the secretary had gone out and didn't know she had done so. Then she had classic poo accident with that familiar vile smell from her fructose days in the car on the way home!!!! Lucky we didn't have far to go and no hold ups!!!!! Now, she had some marmite on toast and brightened up. At least the school have seen what I'm talking about again.

[esmee]

That is great news, Charlie. Keep us posted.

[buddhasbelly]

Hi Charlie, so good to hear you are also getting closer to getting a proper diagnosis for your daughter. I wish for a speedy recovery for her from this last incident though :-( be well!

[lynneangela]

Hi Charlie, Try Worthing hospital. I have HFI. I had to drink a Fructose solution and have blood taken over 5hrs and also had to ask for a DNA test a few years later to prove I had HFI. I was also told my 2 sons would have half the gene and would be carriers of the gene too. And this was done in Worthing Hospital in West Sussex. But then told by them to go home and get on with. Have never had any help since. So good luck.
Lynne

[charlie]

Hi Lynne,

welcome to the board, and so close to us as well, thats great. Thats amazing they have got on with it at worthing, we had to traipse up to Epsom, but that was pediatrics and they all seem to work their clinics in different ways. You must fill us in more on your tests but great you got a clear positive as now you can move on and eat to suit your body.
That familiar story of just being left to get on with it, oh so true. Well we know what it is, but we don't know anything about it. I can forward you the list of British foods if you send me your email address in a PM which may help, and this board is full of ideas of what you can and can't eat. The main problem is everyone seems to have different levels of tolerance on some things so it is a case of listening to you gut alot of the time.

And with Megans farting for England at the moment you can probably hear her gut where you are........

[buddhasbelly]

Hi everybody, just wanted to share that yesterday I had my first appointment with the geneticist (actually, two of them) and it went really well. They even had me draw blood and sent it to the hospital that I found in the Netherlands, through this post by Charlie, for the DNA HFI test! They also sent my blood to another hospital to check for the celiac SNP markers. So now, I wait...they didn't really know for how long, maybe two months they said. For those of you who had their DNA tested for HFI, how long did it take for your tests to get back?

Charlie, thanks again for posting the link with the testing info, it helped a lot! The two doctors said they didn't know much about HFI, but that it sounded like it made sense to test me for it. Because I printed all the information, including the test application forms, we could go right ahead with the testing. They said they were definitely going to look into HFI, since they were very curious about the disease. How about that!

The doctors said with all my absorption problems (vit. D and B12 and iron, among others) it is probable that I have some sort of overarching illness that causes that, like a metabolic disease or a gut problem. I feel really blessed to have found such interested and serious doctors!

[esmee]

Hi Buddhasbelly,

I have sent my blood sample to Dr. Tolan at Boston University and he only runs the test when he has a total of 4 samples (I presume this is due to the cost or something). He said is can take 2-3 months to get that many samples lined up, so maybe that is the case where you are also.

I am so happy to hear that you are getting the help you need.

[buddhasbelly]

Thank you Esmee! It sounds like we both have some waiting to do the next couple of months

[buddhasbelly]

So I checked the website of the institute again, I saw it states that the HFI DNA turn around time is 2 to 6 months. I had hoped for something a bit more quick, but well...it will give me plenty of time to finish my thesis, that´s for sure. I figured I am going to try to obsess about finishing my master thesis instead of obsessing about the tests´ outcomes.