Questions for Genetics

[rysmom14]

Hi All!

I am taking my son to his yearly genetic appointment, and we are seeing a new doctor that is supposed to be a geneticist that specialized in metabolic diseases of the Liver.  That being said, we are making a list of questions to ask.  If there is anyone who has questions, I will do my best to ask at our appointment and see if she has answers. 

[colormist]

Oh snap, I have a technical question for her!

So HFI livers process Fructose into Fructose-1-phosphate and then can't do anything because it doesn't have Aldolase B to do step 2 of the processing. What happens to the Fructose-1-phosphate in our livers? Clearly something happens to it as we manage to feel better after a few days, but I can't find any research that explains what specifically happens to the Fructose-1-phosphate.

Ask her about the HFI Nutraceutical that Dr. Tolan is developing (so that she knows and keeps it on her radar)! If she does know about it, see if she knows of any limitations to the drug (could an HFIer eat anything or would it just protect up to a certain amount of ingested fructose) or the frequency with which it would need to be taken (once a day, week, with every meal).

Good luck with your appointment. I hope it's reassuring and good news.

[antonia]

Wow, that is super generous of you to ask. I know how precious time is with these specialists.

My interest is in diagnosis, as we don't have one, and have tested negative on genetic tests. But, if you have time, I would really love to know beyond hypoglycemia (and accompanying ketones) and elevated liver enzymes, what chemical indicators are there in a blood or urine test that a person might have with HFI or FBPase Deficiency? And if there are, within what time frame would you expect to observe them after exposure to fructose? Would you ever see them without exposure to fructose? In particular, I'm curious about lactate as we were told by one of our specialists that my daughter could not have HFI or FBPase Deficiency because her tests did not show elevated levels of lactate. Which leads me to my last question, are there any indicators that would point to a difference between HFI and FBPase Deficiency?

[rysmom14]

you got it ladies! I will see what I come up with. This is a new Dr. and while her focus is metabolic genetic disorders of the liver, that still doesn't mean she knows of HFI, so I am hopefully guarded/ excited!

I figure that since most Dr's aren't going to be much help with food questions, at least I can ask some more technical questions.

Colormist, how do you pronounce the Nutraceutical?

[colormist]

I was just wondering how to pronounce nutraceutical myself!

Like this, apparently: en.oxforddictionaries.com/definition/nutraceutical

(New-trah-suit-ick-al)

[rysmom14]

Hi Ladies, Well I am reporting back from the grueling Dr. appointments. I will start by saying that I am completely disappointed with the new Genetics Dr. I had such high hopes and they all fell flat as a pancake 

The appointment started off by her telling me what HFI stood for and that I needed to avoid giving him fruits and High Fructose corn syrp. Literaly, that’s it. I said and also sucrose and sorbitol, and she responded “ well yes, but mainly fructose” in a very dismissive tone. She went on to look at his labs( as if seeing them for the first time) and tell me that the increase in his labs were probably due to an illness since that can cause anyone’s liver enzymes to be elevated, and once I told her that he hadn’t had a cold, but that we had started feeding him different foods and some in larger amounts, she really didn’t seem to care. I went on to tell her about all of the food that we had started to eliminate, she asked about what foods I was feeding him. After telling her about the limited “very safe” list, she looked at me like I was nuts and asked why he wasn’t eating any vegetables. I told her what the only safe veggies were and she told me that nothing she had read ever said that veggies were not safe. So of course I couldn’t leave that one alone and said “ everyone knows that there is fructose in veggies, so that would make then unsafe. She still disagreed, so I specifically asked her if she thought carrots were safe and she said yes. Carrots? I mean really…. I knew then that this entire appointment was going to be a waste of time. I thought that maybe I could get some more technical questions answered since she obviously had no idea about the food aspect. I asked about what happens to the fructose one its eaten since there is no adalose B enzyme to remove it and she said that the problem is not that it is built up in the liver, but that the metabolism of it by other pathways is what’s harmful. After 3 times of asking what pathway is gets filtered through I gave up. So colormist, it is still a mystery about how it is metabolized. I asked her about the lactate and lactic acid and why it is something that he should avoid. She looked at me and said” well that’s a very intelligent question, you seem to really know a lot about this to come up with such questions.” While I wanted to scream that this was about my sons life, I did not, I just smiled and said that yes I read anything I can about it to understand it the best I can. Her answer was that when the body is in metabolic stress it creates lactate and to avoid overloading the body with Lactate they just avoid giving the lactate ringers in the hospital setting. So Antonia, this isn’t something specific to HFI, but true of most metabolic conditions.

The dieticians joined the visit and the Dr. very quickly tried to direct my attention to them, In hopes I would stop asking her questions im sure. So after talking a little to the dieticians, the Dr. decided to try to give an overview of everything. She said that my son was a classic case of HFI and it was discovered when he started eating fruits and vegetables. I finally had enough and told them that was 100% not true, that he was hospitalized at 4 months old and had not ever eaten anything except for formula. She went on to again say that she has never read anything that formula had fructose in it. Here are the first 5 ingredients from the formula that he had . Similac Sensitive – Corn syrup, milk protein isolate, High Oleic Safflower Oil, Sugar, Soy Oil, Coconut Oil. I told her this and she still didn’t believe me and said that she has never heard of formula causing HFI problems, and that, wait for it….. he must have been sneaking food or been feed fruit. I flipped out. He was a developmentally delayed 4 month old, that couldn’t even sit up by himself let alone sneak food. She then asked if he had a long hospital stay ( I think to try to discredit that the formula caused the problem) and when I told her that he almost died, turned septic, and was in an induced coma for a week, she just said “oh”. So I don’t think she even took time to read his chart.

On a side note, she never head of Dr. Tolan, or the study and said that I must be mistaken. She also says that colormist, you do not exist because HFI can not be diagnosed as an adult. She also discounted this board because and told me I shouldn’t look to it for advice since most people probably have FM. Even when I told her that I was aware of the diagnosis on the board and that there were a number of people who have been diagnosed through genetic testing she didn’t care. Needless to say that was the end of the appointment.

After thinking on things for a day, I feel that something needs to be done about this because I know she told me she treats another patient with HF I at the same hospital. The mother is on this board, but hasn’t been active in a while. This Dr. needs to know what she is telling parents is completely wrong and dangerous. I am not sure who to take it to because sadly she is the heard physician of genetics. But I am not done, I will email them information and get this to someone. I cant imagine another family just taking her advice because she is supposed to know what she is talking about. I would have more respect for someone who was honest and said they didn’t know.

So if I haven’t said it lately, I am so very thankful for you my board friends! You truly are a lifeline.

[lucky]

There are just no words...
😳😔😡

[rysmom14]

I know Lucky. It really is a shame.

[tummyache]

My heart goes out to you for such a disappointing and frustrating experience. So many times these are gained political medical positions, rather than competency gained --head genetic physician? Hummm? Yes, everyone on this site is such a blessing and it's wonderful to be able to share our experiences.

[colormist]

Infuriating. I would have laughed in her face and probably walked out after her carrots comment. Then again, I might have tried to get her to put me in contact with her other patient "so we could form a support group and share recipes".

Honestly, you must feel extremely intelligent because not only could she not answer your questions and was dodging around them like a wily squirrel, she also gave some blatantly false responses.

I'm bummed she couldn't answer my question and that I don't exist. Until I hear otherwise, I will continue to assume the Fructose-1-phosphate ends up in the bloodstream somehow and is filtered out through the kidneys (since that's where the pain goes a day after eating fructose).

Thankfully, we do have people that know more about HFI than that doctor and the internet enables us to reach out to doctors that specialize in the condition to ask them for more information.

Still, it would have been nice to know there was a doctor (that you could meet in person) that knew all about the condition and could have provided you with good medical advice.

[rysmom14]

Colormist, I don't think I could keep my eyes from rolling throughout the appointment. The nurse actually did sent me an email as follow up yesterday and said that the Dr. thought it would be helpful for me to read. It was not a physician journal, it was an article that took 2 seconds to google, and it said all of the things we know to be true. I wanted to write back to her an say that the article wasn't helpful to me because I already knew everything in I, but I think it would he helpful for her to read, since she was the one who didn't understand. Im trying to go about this the right way and I know being petty isn't going to help anyone, so I am still looking into what I can do. I will be providing a tons of resources that I have combined with the help of this board in hopes she passes it along to others.

and I have the same thought about the kidneys being the filter. They are the body's natural filter, so it only makes sense.

[colormist]

I wonder if the nurse found that article and the doctor (without really reading it) said, "yeah, go ahead and send it to her". Clever of you to turn around and suggest that the doctor read the article that she sent you.

I really can't believe she informed you it would be safe for your child to eat vegetables and then just went on a whim as to what she thought my or may not have fructose in it. How they hell has she not lost her license yet??

Good idea about putting together some resources in case she gets new patients and continues too distribute misinformation. She has two patients now with HFI, so people will default to her as an "HFI specialist". This is horrifying, but maybe you can help provide better information. At the very least you won't feel like you did nothing. Something is almost always better than nothing.

[jenn123]

That is really horrifying....and you get to pay for that appointment too ! 😬 Pre diagnosis we were sent to a nutritionalist that was just on Google the entire time and concluded that if I just gave her Pedialyte all would be resolved. Then my out of pocket was like $175, such a waste of money and valuable time. Grr.
It seems like there are a lot of horrifying stories about lack of knowledge with this diagnosis. The way I am looking at it is that the docs can monitor the blood work/ultrasounds and be there for any super tough times, but they are too unfamiliar to know much about the day to day. I am so grateful for everyone who has left their comments over the years as well as those that have reached out privately. So lucky to have gotten together with one of the knowledgeable families from this board too. we got our diagnosis after I read some of your accounts and requested testing - so much valuable information. I can not say Thank you enough !

[antonia]

Oh, Pfffffffffffffffffffft. Every time I hear that term "classic HFI" my heart sinks. I'm so sorry. And what everyone else said.... I can't imagine where we'd be without this group and the sincere generosity and caring that's shared here. It HELPS, when no one else can.

[ukbill]

antonia I 2nd that. This group got me to investigate HFI and the metabolism of sugars and the results have helped me no end and hopefully others as well.

It was as a result of what i learned here that I reduced my fructose (and sorbitol) intake dramatically and I have seen massive health benefits as a result.

[ukbill]

Colormist the Fructose Phosphate is very slowly broken down by the very small amount of Aldolase B produced in our kidneys.. although what happens when we get a massive burden I have no idea but thats most likely where the damage to livers comes form.

[oneladyff]

Dec 8, 2016 16:29:18 GMT -5 rysmom14 said:

Hi Ladies, Well I am reporting back from the grueling Dr. appointments. I will start by saying that I am completely disappointed with the new Genetics Dr. I had such high hopes and they all fell flat as a pancake 

The appointment started off by her telling me what HFI stood for and that I needed to avoid giving him fruits and High Fructose corn syrp. Literaly, that’s it. I said and also sucrose and sorbitol, and she responded “ well yes, but mainly fructose” in a very dismissive tone. She went on to look at his labs( as if seeing them for the first time) and tell me that the increase in his labs were probably due to an illness since that can cause anyone’s liver enzymes to be elevated, and once I told her that he hadn’t had a cold, but that we had started feeding him different foods and some in larger amounts, she really didn’t seem to care. I went on to tell her about all of the food that we had started to eliminate, she asked about what foods I was feeding him. After telling her about the limited “very safe” list, she looked at me like I was nuts and asked why he wasn’t eating any vegetables. I told her what the only safe veggies were and she told me that nothing she had read ever said that veggies were not safe. So of course I couldn’t leave that one alone and said “ everyone knows that there is fructose in veggies, so that would make then unsafe. She still disagreed, so I specifically asked her if she thought carrots were safe and she said yes. Carrots? I mean really…. I knew then that this entire appointment was going to be a waste of time. I thought that maybe I could get some more technical questions answered since she obviously had no idea about the food aspect. I asked about what happens to the fructose one its eaten since there is no adalose B enzyme to remove it and she said that the problem is not that it is built up in the liver, but that the metabolism of it by other pathways is what’s harmful. After 3 times of asking what pathway is gets filtered through I gave up. So colormist, it is still a mystery about how it is metabolized. I asked her about the lactate and lactic acid and why it is something that he should avoid. She looked at me and said” well that’s a very intelligent question, you seem to really know a lot about this to come up with such questions.” While I wanted to scream that this was about my sons life, I did not, I just smiled and said that yes I read anything I can about it to understand it the best I can. Her answer was that when the body is in metabolic stress it creates lactate and to avoid overloading the body with Lactate they just avoid giving the lactate ringers in the hospital setting. So Antonia, this isn’t something specific to HFI, but true of most metabolic conditions.

The dieticians joined the visit and the Dr. very quickly tried to direct my attention to them, In hopes I would stop asking her questions im sure. So after talking a little to the dieticians, the Dr. decided to try to give an overview of everything. She said that my son was a classic case of HFI and it was discovered when he started eating fruits and vegetables. I finally had enough and told them that was 100% not true, that he was hospitalized at 4 months old and had not ever eaten anything except for formula. She went on to again say that she has never read anything that formula had fructose in it. Here are the first 5 ingredients from the formula that he had . Similac Sensitive – Corn syrup, milk protein isolate, High Oleic Safflower Oil, Sugar, Soy Oil, Coconut Oil. I told her this and she still didn’t believe me and said that she has never heard of formula causing HFI problems, and that, wait for it….. he must have been sneaking food or been feed fruit. I flipped out. He was a developmentally delayed 4 month old, that couldn’t even sit up by himself let alone sneak food. She then asked if he had a long hospital stay ( I think to try to discredit that the formula caused the problem) and when I told her that he almost died, turned septic, and was in an induced coma for a week, she just said “oh”. So I don’t think she even took time to read his chart.

On a side note, she never head of Dr. Tolan, or the study and said that I must be mistaken. She also says that colormist, you do not exist because HFI can not be diagnosed as an adult. She also discounted this board because and told me I shouldn’t look to it for advice since most people probably have FM. Even when I told her that I was aware of the diagnosis on the board and that there were a number of people who have been diagnosed through genetic testing she didn’t care. Needless to say that was the end of the appointment.

After thinking on things for a day, I feel that something needs to be done about this because I know she told me she treats another patient with HF I at the same hospital. The mother is on this board, but hasn’t been active in a while. This Dr. needs to know what she is telling parents is completely wrong and dangerous. I am not sure who to take it to because sadly she is the heard physician of genetics. But I am not done, I will email them information and get this to someone. I cant imagine another family just taking her advice because she is supposed to know what she is talking about. I would have more respect for someone who was honest and said they didn’t know.

So if I haven’t said it lately, I am so very thankful for you my board friends! You truly are a lifeline.

[oneladyff]

Hello Rysmom14,
I was diagnosed as an adult and have stage two liver disease from it. My AST and ALT are elevated and fluctuate. I feel your pain. I am not sure where you live but I have an amazing pediatrician that is never condescending. I was referred to him by Dr. Tolan. His name is Dr. Barshop. I would consider trying to contact him for advice. He is affiliated with many hospitals in San Diego including Radys Children's hospital.

[rysmom14]

Hi oneladyff,

I live in western Pennsylvania, but would love to meet with someone, even if it is just once that really understood things. If there was someone within driving distance we would all pack up and make it a vacation.

[colormist]

Tammy and I are both in western PA. I'm more SW and she's more central west. I'm not sure who her doctor is, but she might be able to help you out with a better specialist (presuming she's had a better experience).

My doctors just look to me to give them accurate information--which is weird. My PCP (a pediatrician in Morgantown, WV) did offer to set me up with a children's liver specialist just to keep track of my liver. Not sure why I keep getting set up child specialists, but maybe they have more experience with liver conditions??

My doctors in Michigan also weren't much help. The geneticist looked at me like I was a unicorn that he wanted to keep as a pet once he found out what my condition was.

If you'd want to meet up to go grocery shopping, I'd be willing to drive up to meet at a Giant Eagle or Kroger.