Genetic testing - a no go

[gerri]

Went to see a geneticist  today - basically told that they would not send me for testing - because the only test for Adolase B.  I said there is 32 different variants - they said they knew nothing about that -  here in Canada they only do the one test only.  I ask them were they saying I don’t have HFI or glyco storage disease - they said no - That I could still have it - but I have to find someone outside of Canada to do the testing and pay for the testing myself.    Six years I waited to get into see this doctor.  Now I don't know where to turn to get answers - so I will continue my diet and watch for leads in the forum.  Thanks for being a sounding board - at least I am feeling better - by eating the suggested foods for HFI.  

Gerri 

[colormist]

Argh! That's so frustrating, Gerri!

I don't know how much it costs, but this is the lab that tested my bloodwork for HFI. I had my samples shipped there and the results arrived within a couple months.
www.bcm.edu/research/medical-genetics-labs/test_detail.cfm?testcode=3129

[rysmom14]

Hi Gerry, I', so sorry the appointment was such a let down, but glad you are feeling better on the diet. I also found the board to be one of the most helpful resources when my son was diagnosed. My son was an inpatient when they drew the labs for the HFI testing, but the children's hospital was not the on to run the tests. They used Baylor lab in Texas. I'm not sure if contacting them would be helpful or not, but they are at least capable of running the tests.

[jejns1]

Hi Gerrie, you may get some help if you can get in to see Dr. Robert Hegele at Robarts Research/University hospital in London, Ontario.

www.robarts.ca/rob-hegele

[tummyache]

Hi Gerri!
So, sorry to hear you are having problems getting DNA tested as an adult, too (I'm age 76). I really went through hoops and finally had to pay for it myself, besides having to argue with Baylor about what they would test. Finally got them to do only 2 genes, ALDOB for HFI and FBP1 for FBPaseD; even though what I really wanted them to run was a whole panel of genes (including some of the glycogen storage diseases that the genetics doctor refused to do...even though I was paying! HA!) It ended up costing me about $1000 per gene--like shooting fish in a barrel--if you don't guess right, it can be an expensive waste of time. Evidently, they are still discovering pathogenic DNA snp's (so not all is known at this point in time); so really not the "end all" it might appear to be unless you happen to be one of the lucky ones who happens to test positive for one of the "common 4 pathogens" for ALDOB for HFI. If so, you can get answers to that by testing with 23andMe for about $100. Otherwise, our being sensitive to our symptoms, plus knowledge gained from others on this web site, are probably our best guides to helping us in our quest towards better health.

Unfortunately, I was diagnosed with "fructose intolerance" in the mid-1970's (before DNA) --and later by the end of the 1980's my researchers were calling it "FBPaseD". Baylor found 5 homozygous (+/+) "benign/Likely benign FBP1 snp's found in FBPaseD patients" -- these actually are rather significant in this case. There are so few of us: 1:350,000-900,000, that really very little is known or discovered yet. It was only isolated as a disease in 1970. So, as it turned out, I paid $1000 to find out I have symptoms of this disease and no known pathogenic snp at this time....research pending.....

[rysmom14]

Hi Tummyache, I can feel your frustration about the genetic testing. I will say that in most cases no one wants to cover the full panel. when my son was in the hospital about 5 years ago, and they were trying to find what was wrong, they were able to get the whole panel approved because he was an inpatient with a failing liver had listed him on the liver transplant list at 4 months old. They estimated the panel to cost about $20,000 and this was through Baylor. because he was failing so rapid and in a more acute setting, I can see whey they did approve it. And I can also see how hard it would be to get approval as an outpatient with no acute issues, more chronic issues. When my daughter was born a few years later, we were able to run just the single test for the exact HFI mutation that my son has and that cost was only around $300.

you are right though, with nowhere to start and different mutations, it would be so very hard to pick a singe test.