Diagnosis question

[brett]

Our daughter's genetics test came back negative, but her symptoms and reactions to sugars sure make us feel that there has to be an issue with either HFI or glycogen storage.  Her geneticist is asking for us to now have a whole genome sequencing test that would require blood from us as parents as well.  As we currently live in a country without these capabilities, we will need to travel back to the US to start the process.

We have been trying to get diagnostic help for about 5 years now-- and we are wondering if we should not push instead for a liver biopsy.  While more invasive, it seems it would be more likely to be diagnostic as well.

From your experience, what is the advantage/ disadvantage of a liver biopsy vs continuing in genetic testing?  When we are told "invasive" how invasive/ how much recovery time are we talking?

Thanks for any thoughts-- we are looking for advice on how hard to push in this direction!

[Tammy]

My daughter still texts negative on the blood work. We finally got the answer (although many years ago) through a liver biopsy. But the decision is yours and what you want to try first

[brett]

Thanks, Tammy! I fully understand I am not asking for professional medical advice and all other legal disclaimers are understood!

I also appreciate that our doctor has been wanting to be non-invasive. However, as every test is a plane trip, and they keep coming back negative, we feel we should be more aggressive.

[colormist]

Can you manage another sit-down with your doctor? Maybe ask them about other possible avenues of testing and mention the liver biopsy (even though you know it's invasive). I'm not sure what the testing involves for glycogen storage, but knowing what kind of tests might check for both HFI and GS would give you some better avenues for knowing what to test for next. Also sharing your financial and time constraints around having to take two plane trips for every test might get your doctor on the same page for more aggressive diagnostic procedure.

[jenn123]

We did a liver biopsy when my daughter was very young. At that time, their believed and tested for HERS disease, which is a GS. This biopsy came back negative, and a blood test tested positive for HFI years later. The biopsy was not too bad for our daughter. It was a very difficult to make the decision, but it is absolutely easier with a confirmed diagnosis. The caring for her all across the board is easier with diagnosis.

[rysmom14]

Hi Brett,

we have done both with my son. He had many blood tests while he was in inpatient with a failing liver at 5 months old and nothing came back ( at that time they did not test for HFI) He also went through a liver biopsy and it was negative. We ended up doing the x-some sequencing and after many months (almost 9 months) they called and said it was HFI.

apparently he has a very common mutation though, so im not sure if they just weren't thinking HFI at the time of his inpatient stay. Maybe in your case because they are looking specifically for HFI you will get more answers.

As far as the test itself, I don't know how much help I can be. I know that it was done in radiology and was done and over quickly. but I cant comment on the discomfort afterwards.