Duke Medical Center

[mike]

I thought I saw somewhere on here someone mention Duke University doing tests. A few of my family members need to have them done and that is the closest biggest hospital that I think would have the capability to and would actually test for HFI. Maybe it was on some other forum but I swear I saw it here. Anyone know?

[julienc]

That was me! I'll PM you some information.

ETA: Did you get your test results back? Based on your siggie, it looks like it was positive. Do share!!!

[mike]

Yeah I was told a few days ago that the DNA test was positive. I haven't received the hard copy writeup that the Germans send. It usually takes 4-5 weeks after the test to come in the mail

[kerrynz]

Greetings

I enjoy the daily chats it is always educational in some way, some of you know us but hello to all.

I just logged on and saw the topic and had my question ready to go?

We have been debating with our genetics team for well over two years now. They have been pushing to have a liver biopsy on our now 4 yr. old daughter, and have tried various pressure tactics, But our answer will not change.

So about 2 months back the team basically wiped its hand and said good bye another tactic.

Then surprise, in the mail today we receive an invitation at their expense to run blood DNA testing in the USA to and I quote “establish the diagnosis of HFI in her once and for all”.

The accompanying paper [consent form from} Baylor College of Medicine Houston >99% accurate and if its an indirect linkage method the test is not 100% accurate and the results are reported as a probability.

PH: 1 800 411 4363. Fax [phone]. [e-mail]

I am not ungrateful but full of questions, to your knowledge,
Can this be done? Have any of you heard of this or used it as a tool to dx?
What questions do we need to ask? I could go on but you know what I mean,

I don’t need a negative dx if they can’t actually give a positive one. If that makes sense??? Or do you know if they only chase the three common strains with an accuracy of 75%?

I am writing this with a hope someone knows something or where we should start.

Looking forward to your opinions and direction.

Regards
Kerryn

[colormist]

I do believe my geneticist at the University of Michigan sent off my bloodwork to identify the DNA genetics at Baylor College in Houston. They IDed both of my mutated genes (I forget the name of them now) and wanted to further the bloodwork with my parents to see which genes they had. (I told them my parents were not that cooperative and I thought it was kind of obvious which mutations they had). It didn't take a long time, maybe a few weeks?

I asked really specific questions about pregnancy, having an emergency bracelet for my condition, and if I should be referred to a dietitian.

They said not to worry about pregnancy (that I already had the condition and knew how to deal with HFI, so even if I had a HFI baby, I'd know what to do), that I shouldn't have a bracelet as it would probably only complicate things in an emergency, and that I already knew everything I needed to know about diet, so it would be silly to go to a dietitian.

I'd definitely do the bloodwork. There's nothing to lose from it, it's mostly painless, and I am REALLY against liver biopsies. Recent advances in genetic identification should lend them to be able to identify almost all the HFI genes. Also, when you get the results back, they'll give you a nice printout of the diagnosis and identify the mutations.

[julienc]

I agree with everything colormist said.

I know for certain that my tests (via Duke) were run at Baylor. They also were able to identify both of my mutations. I don't think it's 99% accurate, but they have identified several of the mutations.

I would absolutely go this route. Even if they can't identify both mutations, they should be able to see at least one, and then draw conclusions from there. This is a much better option than the biopsy.

Good luck.

[kerrynz]

Thank you .. this is a great answer. we'll let you know.
But it will take a few more weeks for us , from here but
it will happen. Thanks again

Kerryn