Frequency of HFI-related doctor visits

[julienc]

Hi All - crazy busy holiday time, so sorry I've been so MIA lately.

My geneticist office called the other day to schedule a follow-up visit, since I haven't seen the doc since my test results came back positive. They didn't schedule something until May, which is fine by me, but it got me thinking about future doctor visits. Do you all see a geneticist (or whoever did your diagnosis) on a regular/annual basis? I guess it's good to get our liver function checked out, but a once-a-year visit seems very frequent. I believe this is what my geneticist recommends, but I'll confirm when I see him in May.

So, just curious about what you all have been doing.

Happy Holidays!!

[Jane G]

I am self diagnosed and confirmed by Dr Tolan. I'm 66 and have never had a Dr visit for HFI. Are you talking about enzyme tests for liver function? I've had a number of these as part of a routine chemistry profile and also as a participant in medical research unrelated to HFI, they were all normal. I try to never injest sugar of any kind natural or artifical as I detest the taste. So I feel that for most of us adults that if we avoid sugar in our diet then a specific Dr visit would not be necessary. My sister Betsy had an enlarged liver as a child. She tried to eat candy with her friends so as not to be different. Later she stopped the candy and her liver size became normal. But for children it might be wise to have HFI friendly pediatrician.
There are other issues an adult might want to discuss with their Dr beside liver function. For instance has anyone had a reaction to sugar in which they started itching and had hives and or swelling of their lips and or ear canal? I went to a holiday meal and ate 2 bites of salad with "sugared" almonds. The reaction started fairly soon after and I was nauseated all evening. Its been about 10 days and I still have some hive-like symptoms.

[millan]

When I was diagnosed as a three-year-old, I had A LOT of check-ups for obvious reasons. As my liver shrunk I went for yearly check-ups which stopped after I was fully grown (in the late teens).
For several years I didn't see anyone, but ten years ago I contacted my dietitian again for a few food-related questions and after some talk we decided that I should come and see them (the doctor and the dietitian) on a regular but not frequent basis, normally every third year.
(I saw them an extra time when I was pregnant and also went to check my daughter to see if she had inherited HFI when she was 6 months old.)
They take some blood and check my liver function etc and I chat a bit about food-related things and they inform me if there's any news, a few times there's been new doctors/dietitians that wants to learn about HFI.
I've always been something of a "show-and-tell" for doctors. :-)

[colormist]

My geneticist did not recommend coming back. After leaving his office the second (and final) time, I felt like a captured animal being released back into the wild. It was really just the look the geneticist gave me, like he wanted me to stay but didn't have a good reason.

I've never had hives before, Jane. That's kind of scary. I do get pretty bad reactions from most bug bites, bee stings, and poison ivy, but they're all under the level of an official allergic reaction.

I'm not big on doctors in general (probably due to Appalachian upbringing). I never went to the doctor as a kid, so I really freak out when I have to go as an adult. I haven't been back to my regular physician since, um, two years ago?

[Tammy]

Regina goes to a gastroenterologist (?) for her liver. Her old doctor from when she was a child only saw her every few years. Now as an adult, her first Dr saw her every 6mo - to a year. That Dr has now left the area and the new one schedules her every 4 months. And then he'll order a liver scan one time, and just a CT scan one time, and something else the next time, it got to where it just seemed like since he didn't have any other reason to bring us in, he was trying to make one up. I have now cancelled the last couple of apts, and will only take her about once a year.

She also goes to an endocrinologist for her bones. She has osteoporosis. Kind of the same thing there. He wants her on meds for it, and since I won't put her on them for long boring reasons, not much sense in taking her back to be yelled at by that Dr. So she only goes once a year for the bone scan.

She's never been to a geneticist. She was diagnosed with a liver biopsy through the pediatric gastroenterologist......the first one who then only saw her every 2 -3 years unless she had a problem.

[mike]

jpgriff said:

There are other issues an adult might want to discuss with their Dr beside liver function. For instance has anyone had a reaction to sugar in which they started itching and had hives and or swelling of their lips and or ear canal? I went to a holiday meal and ate 2 bites of salad with "sugared" almonds. The reaction started fairly soon after and I was nauseated all evening. Its been about 10 days and I still have some hive-like symptoms.

Ever since I was little I have had reactions to melon with itching ears and throat. It now includes all fruits and most vegetables if they are raw. If I eat them raw, I get a very bad reaction. I ate 4 chestnuts and within 5 minutes had a fever, severe vomiting and dizziness. I also have back pain and an unwell feeling for a week as well as the pain that sent me to the doctor in the first place.

[sarahk]

Mike: I don't think Sarah ever had those reactions, but she did get lots of ear infections as a child, and she has sensative skin in general--I think she throws up the food too quickly-usually within 2-3 hours, so she likely won't feel the kidney or back pain.

[esmee]

some fruits will give me itchy welts on my shins. i have not eaten any kind of processed sugar in 25 years, so i do not know if that would do the same.

[tikitavi]

I do get pretty bad reactions from most bug bites, bee stings, and poison ivy, but they're all under the level of an official allergic reaction.

I'm not big on doctors in general (probably due to Appalachian upbringing). I never went to the doctor as a kid, so I really freak out when I have to go as an adult. I haven't been back to my regular physician since, um, two years ago?

Interesting, I too get very bad welts from mosquito bites and poison ivy!

And I too, probably the Appalachian thing again, never visit the doctor unless it is life-or-death. For one, I don't have health insurance (just catastrophic) and I live very frugally. But mainly I am leery of doctors in general. I haven't been seen for my fructose intolerance, I am self-diagnosing through strict elimination diets and careful food journaling and research.

[esmee]

i get very big welts from misquito bites, too. doctors have not been much help to me over the years, and many have looked at me with a blank face, so i am never too excited to go see one. i am thrilled to have discover HFI and, if i can verify I have it through the genetic or other test, there are a few past doctors of mine i would like to go enlighten, ha! ha!

[ukbill]

Last Drs visit 6 months ago usually go about once every year to get prescription for Colofac renewed otherwise only when Hypercondria gets the better of me

Regarding bug bites I do not react particularly badly however I do attract every biting insect for Miles around.

When out for a walk in the country I have to walk apart from everyone else because I collect a cloud of insects queueing up to bite me!

In Scotland one time I had my own personal cloud about 8' above my head of mosquitoes, no one else was being bothered by them..

I use a lot of anti-histamine cream ..

[colormist]

Insects think we smell DELICIOUS.

I have found something that works, though. OFF Bug Spray now makes a little battery operated clip on device that created a bug-repellant zone around your person. I don't like dousing myself in bug spray and sunscreen spray and I think I'm breathing in less noxious fumes with the clip-on.

This doesn't stop ticks, though. So if you tend to collect all types of insects (like me), it's best to gear up for all possible attacks.