Unsure of the next step?

[Chelsea]

We finally met with the biochemical geneticist this week. I really liked him but I still feel somewhat lost in all of this.

In the 6 weeks Gillianne has been on the diet she has completely changed. She is happier, eats fabulously and has even gained just over 1 lb, which thrills me to no end. He basically said "it looks like she has it". We talked about diagnosis and question if it really is necessary.

We did draw blood to send to Dr Tolan but we discussed liver biopsy in case she doesn't test positive. He didn't feel it was worth the risk. He just thought why test, if she is responding to the diet and it makes her feel better than continue with it. While I understand that point I am somewhat torn and suppose I am holding onto some hope that it was all a fluke and there is nothing wrong.

As for the dietitian, I was underly impressed. She was rather standoffish with me when I presented the fact I had been stricter with her diet than what was given to me by her. (Her diet included corn and believe it or not- brown sugar). I even questioned her on the brown sugar as both table sugar and molasses were on the "NO" list but she couldn't answer me. I did direct all of them to Dr Tolans website.

I do believe Gillianne has a milder case based on what I have read from some of you. I did however question things like antibiotics, pain medicine and the MMR. He seemed to feel she would be fine with antibiotics, that not treating the infection would be worse, pain medicine used only when necessary and he was going to explore the MMR.

I guess it's just frustrating. In a way, I felt rather blown off by the team; that her case was mild and I am overreacting. In my eyes, seeing my baby failure to thrive and just not feeling well is reason for me to act no matter how mild they think it is.

[Tammy]

I think the next step is waiting again. Wait to see what the blood sample shows. If it is positive, then there is no question. If it doesn't show it, then I'm not sure I'd put her through the liver biopsy just to be certain. If you see such big changes with her, I could be happy knowing it is what she needs, regardless of tests.

If she does have a somewhat more mild case, or a variant of it, she may do well with the MMR and other shots. My daughter has never had a problem with a shot. And as far as antibiotics, you will see in the future what will need to be done there. At some point in the future, she will undoubtably get something with sugar in to eat. Or you can loosen the diet just a bit and see if there are any reactions. This will give you a better idea of how much she can handle. If she does get reactions, (Regina vomits and gets a migraine with just a small amount) then I'd stick to drugs that are safe.

Maybe she'll be fine with the small amounts in antibiotics, in which case your Dr may be right and say the infection comes first. But if the drugs are going to make her sicker than the infection does, then you'll have to stick with the antibiotics that doesn't contain any sugars. And if your Dr refuses to do that, then I'd consider a new Dr.

As far as the dietician, it seems to be the general problem for everyone. When I talk to one now, THEY ask ME if she can have things. Apparently yours doesn't like to be wrong. But I doubt very much if any other one would really be any more help. Fred is probably your best question answerer on foods.

[Tammy]

I just want to clear one point. There ARE lots of antibiotics that are safe to have. Regina has had septra for her ear infections. And several others for other things. It's just that every one has to be checked, but if your Dr is willing to look through his PDR, there are always options even if his first choice is something else.

My ped was very good at this for me. Several times he wanted to give her something only to look it up and find it contained sugar. Then he would look for an alternative and we always found one. And I want to stress ALWAYS. She never had to go without if she needed it.

The same applies for tests/procedures. There is always an option if you push the issue and demand the diet be adhered to.

As a Mother, just stand firm. But I know that we all know that by now.

[Chelsea]

Thank you everyone! Fred, your comments on the liver biopsy have made a tremendous difference and I think I will opt not to have one so long as she is responding well to the diet.

I think reading this after a long day in the ER was helpful to say the least. Gillianne had a repeat of the same thing she had 6 weeks ago, which ultimately opened eyes and got our diagnosis. She came down with a stomach virus with vomiting for less than 24 hours, yet she deteriorated very quickly and had to be admitted for IV dextrose. Her blood sugar wasn't that low tonight (57) but she was in a lactic acidosis. I really hope as she gains some weight and as she gets a bit older she will tolerate the fasting/ illnesses better.

Thanks again, I would be lost in all of this without this board.

[jenferg]

My son's results came back negative the first time. Dr. Tolan is currently doing a research project that is looking for mutations of the recessive gene that causes HFI. Righ now they are only testing for 6, but that is why my son is in the study. They know there are hundreds of this gene that cause HFI, but they have not found them. The diet has been great for him, but scientifically they can not diagnose him with HFI at this time. I would not change my child's diet if it is working ,even with a negative test result. I guess what I am trying to say is the current testing is not accurate!
Next, I would not give my child any antibiotic that is currently produced by the drug manufacturers for children. They are all suspended in large doses of sugar to make them taste good. If my son needs an antibiotic, I would call Children's Hospital of Philadelphia and the pharmacy there would call our local pharmacy and give them a formula using adult doses, which usually don't have sugar.
Thirdly, Tammy when your daughter had her shots, they probably used mercury or a similar element to suspend, and /or preserve the vaccine. This probably was not a good thing, but it worked for her. If you ever have any question about the ingredients, just read the insert in the vaccine box. Thanks Jen F.

[lisa]

Wow! This all sounds so familiar.
Nate is gaining steadily - 3 lbs. in the past 3 months. I am so glad for at least that. Doc said he wants to wait on the blood test though and do that in June when he does other allergy testing. He said he wouldn't put him through the liver biopsy since it wouldn't change the treatment at all and is quite invasive/painful.
Just got a coverage denial for the dietician at Children's Hospital - Fabulous, right?! Appears we'll have to start over with another dietician. I'm not sure it is worth it. Seems like noone here has found anyone that knows anything.
I am a bit concerned about the vaccines though. The only reaction I can think of is the diarrhea for him though I'm not sure if that will change in severity now that he is following the diet. 2 year checkup is a month and a half away.
My big concern right now is that he has been sick for almost a month now. Cold/cough, runny nose, diarrhea. They tested his BM for a bacterial infection and it came back negative. Ear drums are pink (as of last Sunday), but they didn't want to give him an antibiotic yet. Have any of you had issues with common illnesses lasting longer than normal? I worry because the GI doc hinted that he would be interested in seeing what an immunologist might have to say, given his past history of illnesses, but his ped doesn't seem that concerned about it. I guess I should ask the GI doc if that is still his opinion now that we know about the FI. Am I being paranoid over a simple cold?
Also, ever since this diet started, he's been waking up in the middle of the night wanting water and sometimes will drink two full glasses. Has anyone else run into this? If yes, does it eventually stop?

[Tammy]

Regina rarely gets sick and when she does get a cold, it never lasts very long. she's never had anything like your saying.
She does drink a lot. She doesn't wake up in the middle of the night, but she drinks all day long. lots and lots of milk, diet soda when I let her have it, and some water.

[Chelsea]

We just arrived home from the hospital where we have been for the past 4 days. We had our visit to the ER the other day as Gillianne was vomiting and need IV hydration. Unfortunately, she continued to spiral down and we were admitted the next day. Her acidosis is gone but she is still not eating and drinking and the genetics team wanted us to stay until she was back to a 50% diet. With support from my pediatrician we came home earlier. The diet is hard enough, let alone trying to manage it in the hospital. At one point they sent her a banana and a jello (not sugar free). She did manage to eat a slice of homemade bread this AM, so hopefully we won't be going back.

Gillianne does get sick more often than most but I think it's more related to her Iga immunodeficiency, which is completely unrelated to HFI. The problem is, because of her failure to thrive and the HFI she spirals down really quick and doesn't recover like most kids. The Dr's at the hospital were fabulous though. They all read my notebook with her history and HFI info and treated her aggressively but with caution.

As for the question of antibiotics. Gillianne has been on many and has reacted only by vomiting them up and not all of them, in retrospect only the really high sugar ones. Now we will go with the chewables that have mannitol and I think we should be fine with that (so long as it's amoxicillian that works).

As for pain meds, it's something that when I give it I typically give if she is really bad and then she needs it every 4-6 hours and thats just adding insult to injury. We have feverall (suppository) and thanks to Lisa I believe (who psted the list from her dietician) my sisters family from Italy is bring some Nurofen (sugar free ibprofen for kids).

We haven't had issue with immunizations but the only one we have had that contained sucrose was HiB, we haven't done the MMR yet and these two are usually given at he same time which could very well be part of the problem.