Lactate and HFI

[jenn123]

Our daughter recently tested positive for HFI and all her tests numbers were normal for years due to self selection. Our genetics Doctor ran test on my request. Luckily, her liver was slightly enlarged that morning, and he was willing to write the script. With her numbers normal, she did not fall into the ranges to test. (Unfortunately, no one can understand the level of hoops a parent goes thru to get and keep these tests coming back good.)
We have had 8 years of tests and liver biopsy, so the plan was if HFI came back negative to run one more genetic test. Apparently there is a fairly new, crazy comprehensive test that can now be run. It bills for a whole lot so to get pre approval requires an exhausted search history, maybe ask your doctor about this test.
In summary, for us, our daughter had completely normal tests for everything for years, and still tests positive for HFI. (Mommy is exhausted though 😊).

[antonia]

Jul 7, 2016 10:05:23 GMT -5 jenn123 said:

(Unfortunately, no one can understand the level of hoops a parent goes thru to get and keep these tests coming back good.)

You hit the nail on the head with that statement. So true. So frustrating. 

Can I ask, if your daughter's tests were normal, why did they perform the liver biopsies then? My daughter's liver is not enlarged, at least as determined by ultrasound. Her liver enzymes have been slightly elevated in the past but not enough for doctors to feel any more testing is warranted. The only thing they find abnormal is her level of ketones when she goes hypo which we were told were 8-10 times higher than they should be, even over the normal levels of ketones that would be produced in a healthy person under fasting conditions. Oh, and on a recent blood test taken when she was healthy/not hypo it showed high creatinine levels, which as far as I understand indicates kidneys are not functioning like they should be. Where we stand right now with the geneticist is, "Let's wait until she gets sick again and then we'll do more tests." Being as I'm doing everything within my power to keep her healthy, keep her out of metabolic stress, I don't really find that a satisfactory plan of action.

[jenn123]

We sort of started our journey a few hours after birth when she had sepsis of unknown origin. A year later, she was failure to thrive with elevated liver numbers, around 110 for ALT and AST with enlarged liver. I was still breastfeeding and since she screamed at most all foods but rice, I stopped introducing most foods. At 2, she sadly was still FTT, refusing foods, breastfeeding with elevated, but stabilized liver enzymes. They did a liver biopsy for GSD type VI, hers disease, which came back negative.
The next year was pretty much waiting for an appointment with a geneticist and GI at another hospital. I drove her to appointments with naturopathic docs weekly during this time who had her on enzymes, Whole food supplements and probiotics. Her liver numbers improved, enlargement went down as well. Our appointments arrived at best in the region hospital and our numbers were stabilized. AST/ALT around mid 30s. They ran a host of genetic and gi tests of which all came back normal. Thankfully, they still allowed us to remain patients with once a year monitoring due to her history.
She finally gave up breastfeeding when she was five and able to choose very close to the HFI diet, with very few exceptions. However, it took until she was 3or 4 to not end up in hospital everytime a friend had a runny nose. I had not worked normally in years, came down with pneumonia and mono, which took me a good year to recover. I am the mom volunteers for everything she is involved, not because I want to but because I need to in order to keep her stable. No one is more happy to have a definition to this all than me. I was motivated to keep digging until something came back positive. Like many others, I asked
for the test, which they explained would come back negative, blah, blah. If you find something in your research that rings true, try the diet and if it works, hopefully a doc will entertain you. I am so appreciative to have been entertained that day, (at 9 years old) and in turn, got what we needed.

[jenn123]

I should add to this that at six I began to take her to an Integrative doctor who was also a dietitian (MD, ND, RD).She was great about helping me understand what reactions to various foods might mean. For us, Usually the clue was in the bloating. She is the person who said it has to be somehow fructose and then I researched further. I could not wait and see or dismiss as some people are just quirky either. I would not have figured this out without her feedback. We saw her maybe once every six months and really kept track of foods then responses to them. She also was able to order blood tests and keep an eye on if they were on track. For us, it was money well spent.