Finally - going for genetic - hoping April 12th, this year

[gerri]

Hi everyone - yesterday I was to see my Endocrinologist after 2 hour initial wait, and after another .5 hour past - in walked a fellow or Endo in training - she was quite pleasant - very knowledgable on Hereditary Fructose Intolerance - I am thinking - finally I might be getting somewhere.  She informed me I don't have celiac - but many people like myself are gluten intolerant. The doctor finally came in 3 hrs after I arrived for my appointment - he confirmed I wasn't celiac - that I was gluten intolerant.  Then we started talking about my severe issues with fructose - there was no discussion - that I should follow a fructose malabortion diet.  Dr. Recommended I stay on the HFI strict diet - rest of my life - he is doing follow up on my liver damage - with an ultra sound and blood work - to see how much it has improved since being on the HFI diet - he is also sending me to see a dietician April 12th, and is trying to arrange the genetic testing for that day as well. Except for the long long wait- I was feeling - finally there would be progress.   I felt overall the appointment had seemed to go quite well.

Gerri

[rysmom14]

Progress!!! Such great news for you.

[colormist]

Excellent news Gerri! It's so relieving to go into an appointment preparing for a battle only to have the doctors understand and work with you to help pin down a diagnosis. Please keep us posted on your journey!

[gerri]

Well I guess I spoke to quick. I went to diatician expecting to be sent from there to get genetic testing done. No notes left for me - no nothing. The dietician - suggested more vegetables - which I like to run by everyone whether they think they are good or not -.swiss chard, cucumber, potato, zuchini, eggplant, fresh tomato and arugula. At last appointment I was given - a script to have blood work done - so I had that done today. I still have to have an ultra sound on my liver. Hoping will get that done next week. I am wondering if he didn't get genetic testing arranged because he was waiting - until he got ultra sound back. This last 3 weeks it seems I have been to h*ll and back. I had severe kidney/bladder infection - two antibiotics for that - while dealling with my very sick puppy. On April 3rd - My service dog makaylah 6.5 years old died from epilepsy brain disease - crossed the rainbow bridge and I, I am missing her badly. I don't know the prodocal to get the genetic testing done at McMaster - 5 years seems to me to be an excessive long time.


Gerri

[lucky]

Hi Gerri,

Don't be discouraged. McMaster has incredible specialists. Try to be patient and perhaps your dr is awaiting the results of your blood test & upcoming ultrasound.

Until then, I'm wondering if the dietitian was recommending info for FM (Fructose Malabsorption) as opposed to the hereditary metabolic HFI version you need?

For now, until you rule out a metabolic issue with fructose, perhaps err on the side of comfort, caution and well being and stick to the HFI diet if you feel it beneficial.

[rysmom14]

Hi Gerri,

Im so sorry for the loss of your puppy. I know the bond is very special.

Im glad you gave us an update after your appointment. Im sorry you weren't able to get the testing done at this appointment. as far as the dietician and the veggies, we have not have much success with dieticians, so I only half listen and always am more cautious with their suggestions. The metabolic dieticians should be able to do a better job because of their specialty, but I don't find that is always the case. and like Lucky said, a lot of times the diet is more lenient for Fructose mal absorption because the problem isn't metabolic. as far as the veggies you mentioned, all veggies have some fructose in them, but there are some that people with HFI can tolerate in small amounts. canned green beans, white mushrooms, big white potatoes, dark leafy greens like spinach or kale with the stocks taken out. I have heard rhubarb is ok. I would stay away from cucumber, zucchini, eggplant and tomato. Im not sure about the chard or arugula. I am thinking maybe yes to the chard as long as there are no stalks or stems, and no to the arugula.

I agree with Lucky that its better to be cautious until you know your diagnosis for sure and follow more of the HFI diet. The geneticist may be waiting for the ultrasound results prior to ordering the genetic testing. That being said, I think colormist had been undiagnosed until her 20's and her ultrasound didn't show any significant damage. ( colormist, please correct me if I'm wrong) so genetic testing can still be helpful no matter what the ultrasound outcome is.

[colormist]

Seconding what Rysmom said! Do not eat cucumber, zucchini, eggplant or tomato. So much fructose in those. Your dietitian does not understand the diet at all, but thankfully you do! Even people with fructose malabsorption do not eat tomatoes! And zucchini has well over 1000mg of fructose in one serving!! Even my self-selected diet from childhood avoided those foods!

Had to look up swiss chard (sugar info here: nutritiondata.self.com/facts/vegetables-and-vegetable-products/2399/2 ). It does not breakdown the sugar, but .4g is too high. Plus, given that it's a plant, I'm guessing that's .4 grams of fructose in there. The sugars might just be located in the stem, but you don't want to play around with that when you're first starting your diet.

Arugula is fine, in moderation. Like don't eat a salad of it (also, so gross, that would be the worst salad ever), but you can use it as a sandwich topping once a day. I personally prefer spinach, but Arugula might be nice if you need a peppery taste. Honestly, I wouldn't eat more than one serving vegetables a day or you will be feeling pretty craptastic.

Five years sounds ridiculously long to get your genetic testing completed. Mine took 3 months to get an appointment with a geneticist and another month to complete the bloodwork. I think you could get 23&Me results back even faster than that!

Yes! I had a liver ultrasound recently. It was post-diagnosis, though, and they said it was perfectly normal. My liver bloodwork was crazy a few days after eating something I should not have ate (Funyuns so delicious and I definitely should never eat them ever again), but went back to normal a week later. I didn't have an ultrasound before my diagnosis, but my guess is it would have still been normal. I was on the HFI diet by then because I had been feeling pretty crappy leading up to my self-diagnosis.

And I'm sorry to hear about your loss. It is not easy losing a friend. There are so many daily reminders.

[gerri]

As I was on my way to go see my Gastro today, I received a phone call saying my appointment was changed to next Friday - Yeah - right - driver was arriving any second. I cancelled appointment for next Friday, and now have an appointment booked for Monday the 12th. I also asked if the genetic test has been booked - there was no mention - that it was booked - I was told in the genetic lab it could take 18 months - but as it stands right now - I waited a year - no genetic testing booked at all -so it could be 18 months from time and if it is ever it is booked.

I called a company called Diverent - in Alberta - who can do the testing and also Ancestry DNA. They state they provide more than basic information that 23 & me provide. I know nothing about this company either - does anyone here know anything about this genetic testing company.

I am thoroughly peeved off with my dr. at moment.

Thanks
Gerri

[colormist]

OMG Gerri! To go through all that waiting with the hope of finally getting some answers, only to have them forget or blow you off. UGH!

I don't know anything about that company and google is no help.

[gerri]

How my appointment went today.

One hour & half wait - Dr finally came in - I believe he was avoiding me - I asked right out what he has done to get me into genetic testing - he talked susposedly to a genetic doctor - both supposedly decided - I can’t be talking about the genetic test for Hereditary Fructose Intolerance - because only babies get diagnosed with that. What the hell - He wants now to send me for a liver biopsy which is very evasive and whatever test he can do before sending for genetic testing. When he finally got done with the reasons why he could not send me for the genetic testing right away - I told him that I was sending for a genetic testing kit in July (when I can get the money together) - he decided he wants the name of the company, phone number - and all results - he also wants an consult with - whoever! He had originally diagnosed me with HFI - then changed the diagnoses to IBS. He said “that I likely would continue on the HFI diet because it has helped my health improve greatly.” Divergenthealth.ca - sends DNA to the states to be tested - like most hospital - which do genetics testing here from Canada. My doctor says he knows nothing about genetic testing - I told him he will have better idea - after I have the genetic testing done (lol). So I have to pay for my own genetic testing.

[colormist]

I'm sorry you have to pay for your own test, but at the very least you can stop with the runaround. Do you know how many types the test you're ordering screens for? Their website didn't say. :/ Getting that info or where they send off their stuff to get tested in the US would help. There are quite a few reputable labs in the US doing genetic screenings for HFI which will catch a larger variety than a place like 23&Me--which only tests for the most common varieties.

I got that exact same type of response from my geneticist when I went in to get tested for HFI. "You don't have that because you would have died as a baby without a proper diagnosis." Clearly some kind of bias going on out there. I mean, obviously so many people on this board got their diagnosis well into adulthood and managed to survive just fine being a "picky eater".

I cannot believe he wanted to do a flipping biopsy over a genetic screening first! How extremely frustrating. I'm sorry you're having to go through such bullnuts.