So many questions

[Worried Mama]

So our Geneticist agrees with Dr Tolan so far and until our meeting on the 25th we are to continue to follow the fructose free foods until we can see a dietician. I have some questions:

1. How many kids out there with this? I literally can't find a soul on social media to connect with. 

2. My son is 11 and has been in acidosis many times, ER many times as his body crashed from his formula (he was on formula from age 6-10). He has other health things going on as well. How many of your kids have been through many metabolic crisis? Are they doing well now?

3. As an adult do you really feel ok? Are you healthy as long as you stay away from the fructose? DO you suffer any other disorders with HFI? 

He has major allergies: mast cell disorder, ehler danlos syndrome, and immune deficiency as well. Do any of these things tie into this HFI? He also has poor motility I think I mentioned.

Thanks in advance.

[colormist]

1. Here's a support group on facebook (lots of the same members as on here): www.facebook.com/HFI-Hereditary-Fructose-Intolerance-206679879367455/?fref=ts

The frequency of the disease fluctuates. Sometimes 1 in 10,000; sometimes 1 in 20,000. If you don't have any siblings that have the condition, then you're unlikely to meet another person in the wild with the condition. Even every person I've ever talked to (IRL) has said, "I have never heard of that before". Doctors will be more likely to have heard of someone (or know someone who knows someone) who has the condition.

2. I don't have any kids, so I'll leave that to the other members.

3. As an adult, yes I feel okay. I do have to take precautions (like bringing food/snack with me when I know I'm going to be out for a long while and might not have access to food). I'm not sure what your normal is (or everybody else's normal), but HFI is easier for me to deal with than say my monthly cramps or allergy season. I feel perfectly find so long as I stay away from fructose and maintain my blood sugar levels. There's always a slip up, though, and I'll get nauseated and end up with tender kidneys.

Aside from HFI, I have allergies. I have no idea what I'm allergic to, but it's worse in the springtime. I made the mistake of going on a plane while suffering allergies and I thought my head was going to explode. That wasn't fun.

I also have a retroverted uterus (it tilts the wrong way and sits on my spine) which causes me to be completely inactive during my monthlies. I usually vomit and pass out from the amount of pain.

I have horrible eyesight. Can't see past my nose.

I have crazy skin allergies. I'm allergic to most detergents, nail polish, poison ivy. I once had poison ivy so bad on my face that I looked like Quasimodo. I have to buy sensitive skin everything.

I don't have a gallbladder. That runs in my family--bad gallbladders. I think it was just compounded by the sheer amount of cheese I eat due to the HFI diet. I love cheese.

There are probably a few other conditions that I have that I haven't ferreted out yet. The gallbladder thing was pretty miserable-making. I couldn't eat any foods with any fat in them for a few months--that compounded with the HFI diet had me eating white rice, shredded wheat, oatmeal, chicken breast, and plain popcorn for a very long time. Amazingly I was okay with this diet up until a couple weeks in--where I just began eating angrily and hating the world.

I don't consider any of my medical issues to be a huge concern, though, as the modern world (while presenting some dietary challenges) is pretty good at making things to help maintain my menagerie of conditions.

I know it's scary at first, but when you tackle one thing at a time, stuff gets easier. The only real challenges for people with HFI is when non-HFIers make their food for them (restaurants, parties, grandma's house, in-laws, aunts, doctors, etc).

[Cindy]

My 10yr old was just diagnosed through genetic testing. She is thriving. She has always self limited sweets. Had a couple reactions while we waited for the right test and right doctor to help navigate this path. So wishing it was only a malabsorption issue. I worry about school camps and times when I can't control. She rejects a lot of foods and that has always been okay. She would like to meet others like her. We feel lucky that she can have gluten and lactose. ? milk and cream. Thank you to all the helpful posts out there. Good Luck

[rysmom14]

Hi Worried Mama,

1. I haven’t ever met anyone with HFI, aside from the people on this blog. We live in Pittsburgh PA and as far as I know there is only 1 other child at the Childrens hospital with the HFI diagnosis. My son’s Dr’s has only ever worked with 2 other patients during their career. I have joined the facebook page that colormist mentioned and i can say that I prefer this blog to that page. The FB page doesn’t post all that much and most recently I think someone posted that that thought Agave was ok for HFI. This was kind of crazy to even think because agave has so much sugar, it would probably put people in the hospital. also don’t put too much stock in what the dietician tells you at your appointment. Unless they have dealt with HFI patients before, and I am sure that most hav not. we were extremely disappointed with our dietician. She never head of HFI and I think her preparing to meet with us comprised of her googling the condition and printing a couple suggestion pages from the internet. Most of them contradicted each other. I have had more success on my own, with the help of this board, in putting together a safe list. Someone on the board sent me a list of sugars that were safe and unsafe and this was the most helpful document I have to date. I even sent it to my dietician in hopes that if they encounter another person with HFI then they can provide them with actually helpful information instead of what they gave me.

2. My son only had one episode when he was in severe metabolic distress and it was directly related to the formula he was on. He was on Similac Sensitive and the fact that he was just being introduced to foods, so his main form of nutrition was the formula, this is what caused his liver damage and distress. I may have told you before, but even when he was first admitted to the hospital, they continued to give him the Similac. He turned septic and went into the pediatric ICU and had to be intubated for a week. While he was under he didn’t have the formula, and when he was moved back to the regular floor he already threw up less because he was without the sugar packed formula for a week. After the ICU he was switched to Progestimil ( made by Enfamil) and it has no sugar. This is why he continued to get better. Even after we were sent home with no diagnosis, the sugar he was eating in regular foods wasn’t enough to cause any drastic symptoms. He still threw up a couple times a week, but this was considerably better than when he used to throw up 3-4 times a day. He has been officially diagnosed and sugar free for maybe 8 months now and he has improved tremendously. Before he was diagnosed he was extremely behind on hitting his milestones. He was only able to sit up at 9 months and had a very unsteady head and neck. He was late crawling and late standing and walking. He had months of physical therapy and that was very helpful. After his diagnosis and being sugar free he started to catch up very quickly. He is still slightly behind his twin sister, but not by much. And I have been told that boys are normally slower than girls, so I try to take that into account as well. So all and all he is where he should be except he is delayed in speech. He may need to see a speech therapist for that as well, but I don’t feel that it was a setback from his had medial issues. I think he is just behind, plus his sister does most of the talking for him so what is there really left to say!

He doesn’t have any other conditions or allergies that we are aware of now.

You absolutely have challenges with his other allergies and diagnosis, Just keep doing the best you can do. Where about do you live? It may help us with food options and such.

Rysmom14

[Worried Mama]

Well now our geneticist local is disagreeing with the dx. First my son has never had any liver or kidney damage, or documented hypoglycemia with his ketosis/metabolic episodes. He is 11. He has been on a hyopallergenic formula that was high in fructose for years before his body began to reject it. His geneticist feels he should have some liver damage, or have had some in the past if he had been consuming formula most of his life containing so much fructose. I agree that makes sense. His Geneticist feels that he has too much going on that no one test can explain definetively. So frusterating. He wants us to stay on a fructose free diet, but I don't want to do that if this is not what he has.

[rysmom14]

Hi worried mama,

Can you remind me the test that you had done that gave you the HFI diagnosis? also, how long has your son been on the diet and has it helped at all. I can see the reasoning behind him not having permanent damage from the years of exposure. maybe someone who was diagnosed later on can speak to their amount of liver/ kidney damage.

The good news is that being on the diet wont hurt him, so if the Dr. just wants you to continue the diet until another test result comes back, that might be a reasonable suggestion. I can imagine how hard to would be to find food for your son though being that he does have other sensitivities and allergies.

Does your genetic dr plan on running other tests to confirm or rule out HFI?

[colormist]

If he's doing better on a fructose-free diet, if his health and quality of life are better, then you should stick to it at least until you rule out HFI.

Honestly, when I went in for my diagnosis with a geneticist, then said, "You don't have it because you would have died as an infant." I had no history of liver or kidney damage and my liver tests came back normal. But he entertained the idea and wanted to rule it out first before testing for other conditions. I didn't have regular occurrences of hypoglycemia, but I said I did. They happened infrequently, but often enough that I recognized them.

I'm not sure where they get the training that says "all undiagnosed children with HFI will die", but apparently it's fairly prevalent.

I also took cough syrup and ate chocolates. I nibbled on cookies and kept trying to drink pop. I used cough drops when my cough was bad and kept trying to force more fruits and vegetables into my diet. The foods didn't taste bad to me, but they didn't make me feel good. Eventually, even though I preferred sugar-free foods, the attempts at trying to eat a normal, healthy diet do catch up with us HFIers. There are quite a few of us on here that weren't diagnosed until we were well past 20, 30, and 40 years of age. Some of us were very ill (from fructose) when we found our diagnosis.

Your son is old enough that you can ask him how he feels on the diet.

If my mom were ever in a similar situation and had found my diagnosis as a pre-teen, hearing her say, "I don't want to feed you this stuff because it's too hard for me. Here, eat this stuff that makes you sick instead." That would just break my heart. I was forced as a child to eat many things that made me very ill (cake, cookies, candy bars, baked beans, spaghetti, fruit salad, pop tarts, etc.). It always made me very, very ill. The one person I could always count on to feed me things she knew I would eat (and always get mad at people for making me eat things I didn't like) was my mom. I really think I would be one of those dead baby HFIers if it wasn't for my mom.

I don't mean to lecture you, but holy hell is this an impossible condition to manage without one champion in your life.

Just please listen to your doctors.

[Worried Mama]

We are def following the diet until we get testing done. He tells me he feels better so we are keeping him on it for now. But in terms of forever, I would want to know for sure that fructose makes him sick and its not something else. you know? His testing so far was only genetic testing. He had two compound heterozygote variant mutations one for A150P (well known) and E207Q (untested but Dr Tolans believes to be damaging). Due to his other medical issues I just really want confirmation. Would you suggest a bx or doing the fructose IV thing?

[colormist]

The fructose IV thing is extremely dangerous if you have HFI and does not test for HFI. I've also heard that biopsies are very invasive. Have you asked your son what he would prefer? I mean, if he's okay with getting a biopsy and would be happier having a confirmed/unconfirmed diagnosis, then maybe that's the route you should take (particularly if you geneticist feels the same. At the very least, it would confirm that the second marker is or isn't a part of the HFI family. This might also help many families in the future that are going through similar complications.

Sorry if I came across as lecturing earlier. I've just been dealing with too much death recently and not quite feeling my usual chipper self.

[Worried Mama]

Its ok I understand. Not to mention I feel like a fish out of water and equally as worried. I appreciate being candid because I'm taking this very seriously.

[stefaniebillette]

Jan 13, 2016 13:30:40 GMT -5 rysmom14 said:

Hi Worried Mama,

1. I haven’t ever met anyone with HFI, aside from the people on this blog. We live in Pittsburgh PA and as far as I know there is only 1 other child at the Childrens hospital with the HFI diagnosis. My son’s Dr’s has only ever worked with 2 other patients during their career. I have joined the facebook page that colormist mentioned and i can say that I prefer this blog to that page. The FB page doesn’t post all that much and most recently I think someone posted that that thought Agave was ok for HFI. This was kind of crazy to even think because agave has so much sugar, it would probably put people in the hospital. also don’t put too much stock in what the dietician tells you at your appointment. Unless they have dealt with HFI patients before, and I am sure that most hav not. we were extremely disappointed with our dietician. She never head of HFI and I think her preparing to meet with us comprised of her googling the condition and printing a couple suggestion pages from the internet. Most of them contradicted each other. I have had more success on my own, with the help of this board, in putting together a safe list. Someone on the board sent me a list of sugars that were safe and unsafe and this was the most helpful document I have to date. I even sent it to my dietician in hopes that if they encounter another person with HFI then they can provide them with actually helpful information instead of what they gave me.

2. My son only had one episode when he was in severe metabolic distress and it was directly related to the formula he was on. He was on Similac Sensitive and the fact that he was just being introduced to foods, so his main form of nutrition was the formula, this is what caused his liver damage and distress. I may have told you before, but even when he was first admitted to the hospital, they continued to give him the Similac. He turned septic and went into the pediatric ICU and had to be intubated for a week. While he was under he didn’t have the formula, and when he was moved back to the regular floor he already threw up less because he was without the sugar packed formula for a week. After the ICU he was switched to Progestimil ( made by Enfamil) and it has no sugar. This is why he continued to get better. Even after we were sent home with no diagnosis, the sugar he was eating in regular foods wasn’t enough to cause any drastic symptoms. He still threw up a couple times a week, but this was considerably better than when he used to throw up 3-4 times a day. He has been officially diagnosed and sugar free for maybe 8 months now and he has improved tremendously. Before he was diagnosed he was extremely behind on hitting his milestones. He was only able to sit up at 9 months and had a very unsteady head and neck. He was late crawling and late standing and walking. He had months of physical therapy and that was very helpful. After his diagnosis and being sugar free he started to catch up very quickly. He is still slightly behind his twin sister, but not by much. And I have been told that boys are normally slower than girls, so I try to take that into account as well. So all and all he is where he should be except he is delayed in speech. He may need to see a speech therapist for that as well, but I don’t feel that it was a setback from his had medial issues. I think he is just behind, plus his sister does most of the talking for him so what is there really left to say!

He doesn’t have any other conditions or allergies that we are aware of now.

You absolutely have challenges with his other allergies and diagnosis, Just keep doing the best you can do. Where about do you live? It may help us with food options and such.

Rysmom14

We took our son to Children's Hospital of Pittsburgh after having no luck with any doctors in Florida. None of them have ever even heard of hereditary fructose tolerance. I was not impressed with the metabolic dietitian at Pittsburgh. I have been in contact with Duke and their metabolic dietician was the one who finally confirmed that the brown rice syrup in his formula was causing his liver damage. I am convinced that is what set him over the edge. So, we are going to go see Dr. Kishnani at Duke and see the metabolic dietitian there because they actually do the testing for HFI and she has done research on it.

[ukbill]

Worried Mama where are you in the world?

We have members all over the world here.

If you let us know where you are one of us might know someone in your local area and put you in touch with them?