confused by DNA test results?

[shiree]

Hi all: I am confused: I did the 23andme saliva test and I have been working with a naturopath in Minnesota. He wants me to find a geneticist but so far I'm having trouble with finding someone familiar with HFI. I am told my daughter has 8 homozygous ALDOB single nucleotide polymorphisms (gene mutations). And I have 13 homozygous ALDOB snps.

Does this mean for sure that we have HFI? or does it just mean it is likely?

We both have some of the symptoms but not all. I am going to get off of all fruit and sugar, but before I can get my 8 year old off and convince her dad to help with that I have to have more certainty about the diagnosis and understanding of the condition.

Also, I was surprised to read that we should be off vegetables? Is this just for a short time? or do people avoid vegetables forever? I will have to read more about that.
Also, my daughter had a breath test and it showed she also has fructose malabsorption. I understand this is very different from HFI.

Thanks for your guidance and suggestions!

[colormist]

Your primary care physician should be able to give you a referral to a geneticist in your area. It's unlikely that they will have experience with HFI as it's not a very frequently occurring condition. My geneticist out of Ann Arbor, Michigan had no experience with the disease, but he was able to get me tested properly and knew how to diagnose the condition. My guess is that they'll probably want to do a second genetic screening with a proper lab (since you have one positive gene mutation) or even a liver biopsy. I'm not sure if 23&Me tests for all the currently identified mutations.

I'm honestly not sure how to interpret what your naturopath told you. My test came back positive and my doctor interpreted the results for me. You need one mutation to be a carrier and two to have the disease. If you're a carrier, then (based on my parent's diet) you can eat a normal diet. If you have the disease, then you have to cut out all fruits and vegetables and most sweeteners for the rest of your life. There is no getting better. Any amount of cheating will damage your liver because your liver cannot process most sugars. Eating fructose, in essence, poisons you. It actually feels a bit like salmonella poisoning in the early stages.

Definitely see your primary care physician and get a referral to a geneticist (or someone who could perform the test). It sounds like your naturopath was alarmed enough by your results to press for a proper screening. If the test results do come back positive, then the doctor should be able to refer you to a nutritionist (or someone similar) that will help you manage your diet.

Good luck and please keep us posted!