We saw Metabolism/Genetics

[FMmom]

Kaelin's test results on the Carbohydrate Deficient Transfer panel was all negative. I don't know exactly what those tests covered -- and I'm still clueless after asking that question. Talking to this doctor makes me love our gastro doc all the more. Not only does he have a warm, wonderful bedside manner, he can answer my questions so that I can understand what is going on. The Metabolic doc answered me in such great detail -- cell breakdown and chains and fatty acids and who knows what. I was so lost. At one point, I sheepishly smiled and said I knew I was an English major for a reason -- I have no clue what any of this means. I thought that may get her to lighten up on the medical school jargon, but I was wrong. She continued, but started using her hands a little more, like that would magically make it understandable. Yeesh.

She wants to do the HFI test, which I thought would have been the starting point last time, but no. I asked if it was possible to have both FM and HFI and she said that the FM test is pretty unreliable and could have given a false positive. Seriously? Kaelin's lowest point on that test was 89 at the 15 minute mark. It went up to 230. That just doesn't sound like open to interpretation to me, nor does it seem like a false positive. I don't know, something about there being all kinds of reasons that Kaelin produced copious amounts of hydrogen for that test, and we may never know exactly why.

Kaelin's gastro doc always says that Kaelin is a mystery because her test results never seem to turn out like expected -- but I really thought we nailed the FM test! It might not mean what we think it means?!?!?! [screaming, pounding my head into the wall]

I asked if that testing she just did ruled out mitochondria and she said no, that mitochondria is sort of a "grab bag" of conditions and then she explained in great detail about cells living and shedding and forming chains and dying until I just wanted to weep. She said that eventually, everything that can't be explained in some way becomes a mitochondrial disorder. Because everyone has a mitochondrial disorder -- even getting older is mitochondrial.

I am so confused.

If we need to continue long-term with Metabolics, I'm going to have to find another doctor that doesn't talk as though I am an eager med student. And does the paperwork that needs to be done... She sent us down to the lab for bloodwork, telling me that the orders were in the computer. They were not. We waited for over an hour and a half while they desperately tried to contact the doctor to ask what blood test and where should they send it. Hey, a genetics test for HFI, sent to Boston University -- exactly what I said 90 minutes ago!!!!! (I stupidly allowed Kaelin to get a scone since it was the lowest sugar treat there and because typically she doesn't bother to eat it -- but she did eat it and was going loopy while we waited. Ugh.)

The good news is that Kaelin's weigh-in showed she gained a pound since Friday. Of course, that measurement was at the pediatrician's office, so I couldn't be sure. So this morning I had Kaelin step on our scale (it exactly matches the pediatrician's scale) and actually, she's gained 2.5 pounds. Since Friday!

I've been trying to do more of the HFI diet (the scone, notwithstanding...) and Kaelin is taking Lactaid. Something is working. The Lactaid worries me a bit -- last night Kaelin had terrible stomach pains, just terrible, after taking it. It has mannitol in it, I'm not sure if that is a problem or not. Kaelin's gastro doc reviewed all of her medications when he got the FM test results, but they will need to be reevaluated again if she actually has HFI. I know that Prilosec over 100 mg of sucrose in it, which is not a problem for FM, but I believe it is for HFI.

I hate returning from a doctor and feeling more confused that ever!

[Charlie Arnold]

Oh Fmmom,

I so understand where you are coming from, you poor thing. I am very emotionally drained myself from yesterday and I thoroughly feel for you. I am an Osteopath so have a strong element of medical understanding which probably helps me when they start waffling, but what you went through. I bet you felt like shaking her.

Thats great they are testing for HFI, that will be easy for you as they are based in Boston too, you must be about the most local I have come across. Unfortunately it doesn't always pick up all mutations so may put you in the negative bag again but then there are other tests. I'll post a link I put on the HFI board about various tests but will post it in the links and articles section so it doesn't confuse this thread.


I am confused on the FM positive tests too, maybe there is another reason why these kids come out so high on the readings, Kaelin and Megan have both blown the graph, Lucky did your chap I can't remember right now what you said about it. So maybe there is another reason, I know others that have been postive but only went up to 50, so why were ours so strong. And maybe it becomes a red herring.

Fantastic news on the weight gain, well done that kid.

As for the other stuff they told you , I'll put my thinking cap on for you. thank you, thank you. Five minutes ago I was feeling miserably sorry for myself, now you have galvanised me into action. Hold off that glass of wine, got some thinking to do.

Between us I am sure we will get there........ Might just not be this century.........

[Charlie Arnold]

I came across a new condition after a chat with another mum at the school with a kid with very severe digestive problems.

Eosinophilic colitis. I springs to mind for Kaelin and also Sarah. basically Eosinophils are white blood cells we all produce in response to allergic reactions but some produce too many and it would seem they start attacking the bowel. symptoms include abdominal pain, nausea, sweating, diarrhea, passing blood, weight loss and failure to thrive.

It looks as though removing the trigger is the most important thing so doing the elimination diet is good, but corticosteroids have been mentioned too.

Just another one to add to the list.

[Charlie Arnold]

As for the carbohydrate transfer tests, well, yes if they spoke in plain English it would make life alot easier. I have never heard of it but by a bit of crafty googling I think I have made sense of it.

I think it is Carbohydrate-Deficient Transferrin you need to look up but good luck finding a simple article. I googled it with the add-on in children as the first pages came up about alcohol abuse in adults. But basically it is to do, from what I can work out, is the ability of the liver to break down glycoproteins. I've pasted this part of an article.

Congenital disorders of glycosylation (CDG), formerly known as carbohydrate-deficient glycoprotein syndrome are a group of inherited metabolic diseases that affect the one of the steps of the pathway involved in glycosylation. CDG typically present as multisystemic disorders with developmental delay, hypotonia, abnormal magnetic resonance imaging findings, hypoglycemia, and protein-losing enteropathy. There is considerable variation in the severity of this group of diseases, ranging from hydrops fetalis to a mild presentation in adults. In some subtypes (Ib, in particular), intelligence is not compromised. CDG-Ia should be suspected in all patients with developmental delay, unexplained liver dysfunction, abnormal subcutaneous fat distribution, stroke-like episodes, unexplained hypoglycemia, liver disease, and with or without chronic diarrhea. The differential diagnosis of abnormal transferrin patterns also includes liver disease not related to CDG including galactosemia, hereditary fructose intolerance, and liver disease of unexplained etiology.

Further down it mentions not to confuse with other conditions like HFI so basically it looks like they are excluding liver problems associated with sugar metabolism.

[catherine]

Quick note: Sarah is taking corticosteroids for her Crohn's Disease.

Catherine

[FMmom]

Charlie, thanks for the info.

I am familiar with the term "eosinophil" because periodically I cull through Kaelin's lab test results, which Children's Hospital conveniently set up online. In every WBC report, Kaelin's "absolute eosinophil" is high. Every single test. (her absolute lymphocyte is also elevated every single time.) Sometimes the eosinophil level is three times the range of normal. The "eosinophil automated" is usually high as well, although occasionally it falls within the range of normal (and by falling within, I mean the range goes to "1% to 4%" and Kaelin was at 4%.) Gastro doc runs these tests and sees all these numbers -- and has never been concerned so I try not to worry about it either.

However, I have been curious what it means and I've googled it a couple of times. But I've never encountered "eosinophil colitis". Interesting... I wonder if gastro doc has ever suspected this -- he has ordered tests for gastric-emptying (Kaelin is a little slower than average, but not slow enough to worry about) and he often checks for blood in the stool. Kaelin has acid reflux and sleep disturbances, but of course, all of her possible conditions have that... Sigh -- another "difficult to determine" condition.

CDG is a little scary... Developmental delays (check), Strabismus (check), failure to thrive (check) But then again, the first thing on the "clinical issues" list is hypotonia (which I had to look up and it means low muscle tone, sometimes seeming like a rag doll.) Ooh, total fail on that one -- Kaelin is a human 2x4, totally stiff and unbending... Glad to see it's ruled out, nevertheless.

I have a question about the genetic testing for HFI (I asked the Metabolics doc and she may have answered, but I can't really tell because I didn't understand anything she said...)

On the genetic CF test, two CF mutations means that a person has CF. However, I was told that finding one or even no mutations does not rule out CF because they know there are many mutations that have not been discovered yet. (Kaelin has one mutation and they suspect, but do not know, that she has another.) On the celiac genetic testing, having the gene does NOT automatically mean that one has celiac -- it just says that there is the possibility that a person could develop it over the course of a lifetime -- but if s/he do not have the gene, there is zero possibility s/he will develop celiac.

Do you know how the gene for HFI works? Does finding it automatically mean the the person has HFI or does it mean that may be some day s/he could develop it? Does not finding it totally rule it out or are there undiscovered mutations like with CF? I'm under the impression that the genetic test is not necessarily going to give us an answer either way, but I wasn't clear on why not.

[Charlie Arnold]

As far as I know, but I will check these facts with Fred from Canada on the other board as he is the expert on this info being one of the first ever diagnosed. (Did you ever catch up with him Lucky, he is such a lovely chap)

Only 85% mutations can be detected and I think they only announce it positive if 2 different mutations are found. so yes, if 2 are found straight out it is a definate, if 1 found a maybe, if none found still doesn't mean you haven't got it. Then you would go on to other tests, see article I posted in links section, that gives a bit more info.

Basically, the gene test is the least invasive and may give you a straight out answer, then there is they hypoglycemic test or liver biopsy.

As for eosinophils having done a bit more reading I'm not surprised they are high in anyone with a challenged digestive system as they are the bodies defense in allergies so more will be produced if a "toxin" is going thru. Whether they are a problem is difficult to work out as again it is a relatively new diagnosis.

[FMmom]

So the HFI test sounds exactly like the CF test -- a clear answer if two mutations are found, but anything else is an open question. And just because we've been living under the agony of an unclear CF diagnosis for the past three years, I'm fully expecting to get one HFI mutation -- just enough to suspect it, but not enough to firmly diagnosis it. Ugh!!!!

All in all, I'm very relieved that metabolics doc is doing the genetic testing. The very little I initially read about HFI suggested that those who are not diagnosed by 2 are probably dead. Articles also made it clear that HFI cannot be diagnosed through the hydrogen breath test, so once Kaelin had a positive test, I thought that meant she absolutely could not have HFI. However, I continued reading little snippets and found that people had been diagnosed significantly later than childhood. A few other things creeped into my consciousness and I've been rather uneasy with the knowledge that Kaelin could have it and we have prematurely given up the search. And every time I'm lax with the diet, I could be doing permanently harm...

As gastro doc tries to pinpoint exactly why Kaelin cannot gain weight, I have a sneaking suspicion that he's tried to determine if Kaelin does, in fact, have HFI. He said that kids just naturally avoid foods that don't "feel good." I guess there were signs along the way. She's always loved pasta, but has never liked tomato sauce. She liked chocolate a little bit -- but would prefer bread or fruit over candy, cake, cookies or ice cream. I never let her drink apple juice. Sometimes she had it at school and she had terrible diarrhea afterwards. Most of the time, she asked for juice, like orange or white grape, but it just sits untouched on the table. She loves fruit, so that doesn't fall into the avoidance thing that gastro doc was looking for, but in general, she did avoid sugar.

He also asked about vomiting from food. She did only once that I'm aware of -- last April she woke with horrid stomach pain, enough to make her cry, and then she vomited. And her stomach has been in pain ever since.

I've always wondered if her untreated pancreatic insufficiency saved her in some way. She seemed to be in 24-hour hypoglycemia before she began taking enzymes. Her weird, uncontrolled body movements and mood swings would calm down when she ate, but be back within about 90 minutes. She just wasn't processing the food. I can't prove it, but I suspect that few early signs of HFI may have been detectable if she's not processing adequately. The body movements and mood swings were easily attachable to foods once she took Creon.

Kaelin has not done the Lactose breath test -- and I'm going to request it this summer just so I can sort out all the things that she may be sensitive to.

She's had a number of celiac blood tests and an endoscopy, so although she has "classic symptoms" like leg pain, unexplained rashes, feeling tired, and mouth sores, gastro doc is hesitant to do another endoscopy because he just doesn't believe that the results will be any different. I agree. The symptoms do not seem to disappear when wheat is taken away for long stretches, nor do they get worse when eating wheat again.

Kaelin did a stool test rather than a breath test looking for SIBO and she was clear. But after months of Kaelin's unabating pain, then the vomiting incident, gastro doc decided to try two weeks of Flagyl. Nothing changed, the pain is still there.

Ooh, Lucky, sorry to hear about your son's experience with the breath test. Kaelin almost heaved, but managed to hold on and drink all of it. But she was instantly in the bathroom and her poops were just water after about a half hour. She was sick for days afterwards. So both me and gastro doc are hesitant to do any other breath tests. (although, as I noted above, I really really do want the lactose test because I just need to sort out all the issues!)

Thanks for the explanations on the FM testing. I still question whether Kaelin could be HFI, but I see now that it is actually possible. I expect the results of the genetic test to come back as inconclusive (zero or one mutation) but sometimes I see the possibility. I've been saying that Kaelin also has a sensitivity to Salicylates. I don't believe there is any test for that, but a lot of the things that should be reasonably okay for FM just doesn't work for Kaelin at all. However, when I read through the HFI diet, I see all of those items listed. So maybe it's not a combo of FM and salicylate sensitivity, maybe it is HFI. For now, I'm trying the HFI diet. I allowed Kaelin to have a couple of items with sugar and she immediately dropped some weight, but has gained it all back now. That diet seems to work better for her for some unknown reason.

Maybe the next metabolics appointment will provide that reason...

[catherine]

Kaelin's mum.

Where are your daughter's mouth sores. Where are stomach pains. Has your daughter had a colonscopy? Your GI run stool test looking for blood.

Has your GI mentioned Crohn's Disease?

As you may have read my daughter was dx with Crohn's in late January.

What I now know as syptoms, in June of last and before were.

Low Iron levels, stomach pains twice month, mouth sores, unable to gain weight, delay in sexual development. High Imflammatory markers.

My daughter never appeared to have any blood loss and presented with constipation.

If your daughter has not had a colonscopy, you GI maybe testing the stool sample for a reason to do one.

Our GP didnot do a colonscopy in July 2011, as the test is too bad for kids (remember exact words).

Catherine