Geneticist wants us to challenge fructose at home??

[Worried Mama]

Our local Geneticist must really really think my son does not have HFI because he told us to challenge the fructose at home. He gave us labs to run before and after he has some fructose. Didn't tell us how much to give, what form or anything. He didn't say when to run the second labs....and most disturbing is he isn't even testing his phosphates or fructose levels during all this? I would feel more comfortable being in an hospital setting, and I would like to have experienced Dr's doing this test. He refuses to bx to confirm. I really don't know what to do now. He even eluded that "some people over medicalize children" and I wonder if he is talking about me? He says its all behavioral because my son has Asperbergers. Um no. He had genetic testing that sent us in this direction, its not like I even knew what it was before that came back! I'm so mad. I've emailed Dr Tolan for advice. 

Thanks for listening to me rant.

Valerie

[antonia]

Do you have the option to see a different geneticist? If there's one thing I've learned in the past year is that if you're not getting what you need from a particular doctor, if they're just not getting it (and it is clear from what this one is proposing, he does not) go see another one!!!

I'm sorry for what you're going through. I feel your pain.

[colormist]

A. Fructose challenge is very dangerous if you have HFI. You should rule out HFI before attempting the fructose challenge. It will not only damage a HFIer's liver, but can put them in a coma.

B. Who in their right mind, when dealing with a person that has a high probability of having HFI, would ever recommend they try the fructose challenge at home?!?

I'm going to agree with Antonia. I think a different opinion is in order. Can you talk to your primary care physician and see if they can find a geneticist that has experience with or knowledge of HFI? If you are comfortable giving your general location, we might be able to find one in your region (given our pooled experiences).

EDIT! And having you run the labs at home! WTH??? That won't be in his medical record and they would just have to run the test a second time at the hospital to verify your results. This is a horrible idea--all around.

[lucky]

Conducting health related and potentially genetic type testing at home is irresponsible. Especially if HFI is already suspected as a possibility.

To me, doing tests like this w/o medical supervision is like dangerously rechallenging a child at home with a suspected peanut allergy. Should there be a full blown emergency, where's the immediate medical response? Where would yours be if too much fructose was given and in a non strategic fashion and/or approved safety parameters.

Realistically, any potentially dangerous health issue should only be tested and monitored in a hospital setting. Period.

For the proper HFI Fructose Challenge (not Hydrogen breath FM testing), our son was admitted into the hospital with full protection and monitoring of not only a metabolic type nursing unit, but more importantly the Genetic specialist himself. An IV was used for safety and blood work was drawn for baseline metabolic readings. After fructose was given, breath tests were conducted in intervals ALONG with blood. The blood work was the most important. The whole procedure was very systematic and strategic.

And safe.

[Worried Mama]

This is what I thought. I contacted one of his other Dr's right away who is going to talk with the Geneticist about this. But I would like a new Geneticist. What bothers me is that he didn't even bother to research this disease or contact Dr Tolan for advice. He simply said he doesn't think he has it because he is 11 and has never had liver damage that we know of, or documented hypoglycemia after injesting fructose. Well...we didn't check for these things after injesting fructose so...how would we know? ALso, isn't there a degree of severity within this disease? Can't someone have some symptoms but not all symptoms? I live in Phoenix AZ. I did email Dr Tolan to see if he can do testing, I don't know if they do. Can any other Dr write the orders and have it done at the hospital? Does it have to be Genetics?

[rysmom14]

It does seem that most of the diagnosis happen in childhood, very early on, but there are a lot of people on this board who weren’t diagnosed for years. Some had a constant feeling of being unwell and their bodies dictated that they don’t eat sugar because it made them sick and others were diagnosed as soon as they started eating “people” food as babies.

There isn’t a ton of info or research on HFI because it is so uncommon ( and personally I think that there isn’t going to be a lot done due to its manageability with diet) so most people and doctors are not familiar with it.

You mentioned if another dr. can write the script for genetic testing… Alpha 1 ( a genetic liver disease) runs on my husbands side of the family and when my mother in law was diagnosed ( late in her 50’s, which was extremely unheard of!!) my husband and his sister had their PCP write a script for testing for the alpaha 1 gene. We were told that once you were tested and given a number that your number never changed and if you were below a certain number you didn’t have alpha one and were not a carrier. My husband ended up being tested twice because his first test was negative, so he went for testing to be a live liver donor. The second time they drew blood his number was above the limit. to this day we aren’t sure if he is a carrier or not. The whole reason for my story is that the PCP tried to order the test, but in the end she either didn’t order the right test, or didn’t know how to read it. I would find a geneticist to order the test because you know it is the right test and that the results are being interpreted correctly.

[Worried Mama]

I should have been more clear. He had the genetic test indicating he has HFI. They want to verify with a fructose test. I wondered if PCP or any other Dr could write those orders? Also...he was sick from the time I stopped breast feeding.

[rysmom14]

once we had the genetic test done and it came back as HFI, there was no other testing done. to me if his genes show HFI then that is the be all end all test. I cant figure why they want to keep testing. I undertand if they feel they if there are other problems or concerns unrelated to HFI, but I would think that the HFI diagnosis is final.

grrrr I feel your frustration for sure.

[worried Mama]

it has to do with that he is compound heterozygous and one gene hasn't been tested yet so they don't know if its damaging and only assume its probably damaging. He has A150P and E207Q which is a missense/polymorphism. Dr Tolan feels that the combination of the variants we are most likely dealing with HFI and didn't see a need to do any further testing. But since he doesnt fit all symptoms our Geneticist doesn't believe it. It is frusterating. This all came about because he went into metabolic acidosis and ketosis for months on end when they had him on a strict formula only diet two years ago. It landed him in the hospital for months on end. He couldn't walk, his strength was gone, he was pale and shakey and sweating profusely at night in particular, his HR and BP were all over the place and he was vomiting up all of his formula. They would put him on a D10 IV of glucose and he would get better. finally I stopped the formula on my own and he got much better. But he wasn't perfect because he ate fruit still and smoothies. Its like they forgot how he was in the hospital for a year because its been a year since then. Now its like it never happened and everything is ok? erggg

[colormist]

What's extra strange is that he has one gene (and maybe two). You have a couple doctors agreeing that he has HFI.

The fructose challenge test can diagnose for FM, but if the kid has HFI, it can also trigger a false positive for FM. It's not used to confirm HFI at all. Like rysmom, I'm not sure why your geneticist would think this is a good idea.

You already have a history of him not doing well with fructose. To do this test at home would just be completely pointless. I mean:

Patient: Fructose makes me ill. I don't feel well when I consume it. It makes me vomit.
Doctor: I have an idea! Go home and drink a bunch of fructose.

Patient: Peanuts make my throat swell up and I have difficulty breathing when I'm around them.
Doctor: I have an idea! Go home and eat a few peanut butter sandwiches.

Patient: Touching poison ivy makes my skin swell up with a weeping rash and I get really itchy.
Doctor: I have an idea! Go home and rub these poison ivy leaves all over your body.

I'm really at a complete loss here.

Is it the fact that he's doing better now that he's off fructose? Is that confusing your geneticist?

FYI: I was diagnosed in my 20's. My geneticist didn't believe I had HFI either, but he humored me with a test. He said they would do the fructose challenge if the HFI test came back negative. I also did not have a history of liver damage and I managed to not die as a toddler. These were both reasons why my geneticist said that I did not have HFI: I was not currently dead and didn't have a history of liver damage.

Stick to your guns, lady! If you don't think it's a good idea and aren't comfortable with it, then nobody's forcing you to stay with this doctor.

[Worried Mama]

Yes he is doing so much better now. He's doing better overall because we have been able to narrow down and treat multiple things going on with him, so that by the time we figured this out he is much better then he was before. Two years ago when we first met this Geneticist it was in the hospital after metabolic acidosis and profuse vomiting and not knowing why. Now its like that never happened. He seems to have more energy off the sugar (weird right?) His kidney labs have all normalized too being off that formula. But like your Geneticist he thinks that there's no way he would have survived this long and his symptoms are just "too mild" if he does have it. Mind you he was in the hospital almost a year because the formula was basically killing him, his body was literally shutting down. Its like they all forgot that year.

[antonia]

None of that sounds very MILD to me at all.

A year in the hospital is anything but "mild". During that time it sounds like he did suffer from chronic hypoglycemia. Vomited up fructose containing food/formula. You mentioned kidney labs? I am no expert, but HFI is also known to cause kidney damage, not just liver damage. His genetic labs indicate HFI. And he is markedly improved on a no fructose diet, correct?

Hugs to you. I'm really sorry for all you've been through. I hope you can find a doctor who cares more about your son's well being, takes you seriously and wants to proceed with more caution.