|
|
Post by meaniejean on May 31, 2009 17:43:31 GMT -5
Well, I have been meaning to update for awhile, but you know how it goes ... In the past couple of weeks I have had a biopsy and Calvin's genetic test came back. So, here goes: No mutations were found on Dr. Tolan's genetic test. I know that doesn't mean not HFI, but it certainly suggests ... My liver biopsy was a fine needle biopsy. Unfortunately the sample obtained from this kind of biopsy is not large enough to do an enzyme study, so I am a little more than annoyed that I did not know this would not be a truly diagnostic procedure. The GI sent the sample to a laboratory here in Maine. The pathologists comment was that "the features may be found in the setting of a metabolic disorder such as fructose 1,6 diphosphatase deficiency." He then went on to say that the GI should correlate the biopsy findings with the clinical findings. So, the GI has stated that we should go forward with the diagnosis of fructose 1,6 diphosphatase deficiency (FDPase deficiency). I agree with her mostly, as it is a much better fit with our symptoms than HFI (explains the ketonuria, fasting issues, acidosis, trouble with too much fat and protein, etc.). So, the thing I am really annoyed about is that if I had known they were not going to do an enzyme study, I would have had a helping of fructose to make sure they really saw something. I guess I am lucky that you need to fast for the biopsy, otherwise, they may not have seen anything at all - since FDPase doesn't cause any liver damage, just swelling. We see the geneticist in mid-June and I have forwarded the info on to my son's GI doc. So, there it is. Now I'm wondering if anyone else on here has been diagnosed with FDPase deficiency ... Thanks for listening  -Sandra |
|
|
|
Post by charlie on Jun 1, 2009 15:54:45 GMT -5
Hi Sandra, good to hear from you, haven't posted for a while either as we are pretty static too.
Well it sounds like you are getting some sort of answers, it sounds a similar condition with the same treatment as HFI. I must say I've just googled it, I know you mentioned it for Megs ages ago but found a good website with some symptoms etc, will paste link here, hopefully it works: emedicine.medscape.com/article/943882-overview
Having read the symptoms it does sound remarkably like Megs,she is alot more stable now we are monitoring the frequency of eating as well as what and catching her before her blood sugar goes too low, at this rate by the time we finally get our London referral she will be glowing with health. Good for Megs, bad for definitive diagnosis. Will be brave and march there with a copy of this article I think. In England that doesn't always go down well, depends on the consultant. Sometimes they try to make sure it is anything but.
Oh well, soldier on, how are the boys? Hope all well.
Charlie
|
|
|
|
Post by meaniejean on Jun 9, 2009 19:31:04 GMT -5
Well, the boys are both a little under the weather. Seems to be something going around here. I am working on getting over pneumonia. So, I got a letter from my GI to have to show the geneticist when we go later this month. Now I am really confused. She mentioned FDPase deficiency and then stated that the pathologist thought the findings were consistent with hereditary fructose intolerance. Going to have to call about that, since the diets are a little bit different (staying away from fats, glyerol, etc. in FDPase deficiency). Either way, I do feel a bit more confident having a diagnosis - even if they don't seem to be sure which one it is. I am pretty sure it is the FDPase one, but I'm certainly not a pathologist. OK - so am I the only one on this board with a FDPase deficiency diagnosis??? I am really itching to find someone who has been there and done that with the diet. Charlie - hope you guys will get some answers soon!!! Hope Megs is well. Sorry about the puddings  |
|
|
|
Post by colormist on Jun 10, 2009 7:43:31 GMT -5
FDPase deficiency sounds really familiar. *is googling it right now*
"FDPase deficiency (medical condition): A rare inherited condition where an enzyme deficiency (fructose-1,6-bisphosphatase deficiency - FDPase) impairs the body's ability to metabolize fructose from the diet."
Sounds like they're pretty similar, though I still can't recall where I heard the name before. HFI deals with an inherited condition where an enzyme deficiency in the liver. I wonder if the odds of passing on FDPase deficiency to children has higher a higher probability than HFI. Either way it's pretty interesting that there are other forms of fructose intolerance out there.
|
|
|
|
Post by Tammy on Jun 10, 2009 9:24:01 GMT -5
FDPase was mentioned on this board several years ago as a possibility from someone who was searching for an answer. The diagnosis was never confirmed. Just a mother searching after HFI was ruled out. When that mother left this site, she erased all her posts first.
This could be where you've heard it before, Laura, as I think it was just about the time you started posting. If there is anyone with a DX of this, they must be lurking as I don't remember anyone else having it.
|
|
|
|
Post by charlie on Jun 10, 2009 13:06:58 GMT -5
My link to the article didn't quite work, try emedicine.medscape.com/article/943882-overviewClick on the highlighted words Metabolic acidosis and it will explain, if you can plough through the medical jargon about some of the symptoms which I will post in the next block as I will lose this if I find it now. |
|
|
|
Post by charlie on Jun 10, 2009 13:13:41 GMT -5
The clinical manifestations of a metabolic acidosis are related to the degree of acidemia. Initially, patients with a metabolic acidosis develop a compensatory tachypnea and hyperpnea; if the acidemia is severe, the child can present with significant work of breathing and distress. An increase in serum hydrogen ion concentration results in pulmonary vasoconstriction, which raises pulmonary artery pressure and pulmonary vascular resistance. An increase in right ventricular afterload and, potentially, right ventricular dysfunction can then occur. This is especially problematic in newborn infants with persistent pulmonary hypertension.
Tachycardia is the most common cardiovascular effect seen with a mild metabolic acidosis. As the serum pH continues to fall below 7.2, myocardial depression occurs because hydrogen ions act as a negative inotrope and peripheral vasodilation occurs. Also, with acidemia, cardiovascular response to endogenous and exogenous catecholamines can decrease, which can possibly exacerbate hypotension in children with volume depletion or shock.
Central nervous system manifestations can include headache, lethargy, confusion, or any change in mental status secondary to a decrease in intracerebral pH. Cerebral vasodilation occurs as a result of a metabolic acidosis and may contribute to an increase in intracranial pressure.
During a metabolic acidosis, excess hydrogen ions move toward the intracellular compartment and potassium moves out of the cell into the extracellular space (serum). For every decrease in the serum pH by 0.1, a concomitant increase in the serum potassium level by 0.5 mEq occurs. As a result, hyperkalemic arrhythmias (peaked T waves and QRS widening) and ventricular fibrillation may occur. Other acute metabolic effects of acidemia include insulin resistance, increased protein degradation, and reduced adenosine triphosphate (ATP) synthesis. During acidemia, the oxyhemoglobin dissociation curve shifts to the right; oxygen has a lower affinity for hemoglobin, but hemoglobin releases oxygen more readily. Also, nonspecific gastrointestinal complaints, such as abdominal pain, nausea, or vomiting, may be present.
The conditions do sound very similar but the effects are slightly different by the looks of things, certainly the treatment is the same by the looks of things but possibly more effects on the kidneys. Maybe alot more have this condition than realise. Certainly Megan's kidneys seem more affected than liver, she still has excessive urination if she eats anything dodgy and is still very wet at night. Maybe there is a link?
Some of it boils down to which specific enzyme is missing by the looks of things.
We finally have a date for our london referral for Friday 19th so not long to wait, I plan to go armed with every little symptom we have noticed written down in a list so as not to forget anything.
|
|
|
|
Post by meaniejean on Jun 27, 2009 8:41:00 GMT -5
Well, we saw the geneticist the other day. She doesn't seem to think that I could have FDPase deficiency. I also found out that they could have done the enzyme test with the biopsy and that the hospital doesn't have any of my liver sample left. I am beyond irritated! The geneticist isn't sure what is going on with us, but it seems to me that she doesn't think it is HFI or FDPase deficiency. She is going to speak with some of her colleagues about us. I left the appointment feeling like these docs just think I'm a crazy woman.
Does anyone on here have any experience with Dr. Korson in Boston?
|
|
|
|
Post by charlie on Jun 27, 2009 14:17:05 GMT -5
Oh Sandra, what a nightmare for you, that is so frustrating and unecessary and the last thing you need with the kids to worry about too. Hope you are over the pneumonia now. I should jump up and down and make a big fuss, although if you're anything like me you go with all intentions of doing that and then they say one positive thing and you forget it.
When you go for appointments are you having a bad spell or have you got yourself in good mode by then. If that is the case maybe you need to make yourself 'ill', really reactive and present yourself there and then. Don't know how that would work but it may show more up.
Keep your chin up.
Charlie
|
|
|
|
Post by meaniejean on Jul 22, 2009 11:03:11 GMT -5
Hey all-
We found out that my liver biopsy was indeed worthless. Next step is a fructose tolerance test at the hospital. We are also likely going to be referred to some place in Boston, I think.
The geneticist's office doesn't seem interested in helping, so we are once again on our own. They keep saying they are going to "talk to colleagues" but we never hear anything. I find it hard to believe we are the only family in Maine dealing with fructose issues. Oh well.
Despite the annoyance of the biopsy and trying to get a diagnosis, we are all in fairly good spirits. We cut out the orange flavored glucose tablets and things seem to be improving. Sawyer figured it out for us once again. That kid is good at this!
Hope all are having a good summer. Too rainy for us here!!!
|
|
|
|
Post by charlie on Jul 22, 2009 15:03:43 GMT -5
Sandra, how familiar this sounds, they pick up your hopes, then dash them back down, they go away and have a think, for ages, then start all over again. We can sympathise wholeheartedly, I am still rushing to the phone and postbox each day thinking we will get answers.
On the kid front, I think the kids still have that natural protective mechanism in them that tells them they shouldn't eat anything, If megs doesn't like something then that is straight off the menu. I think as adults we have lost that ability.
Weather foul here too. We had a "heat wave" here a few weeks ago and all moaned, it topped 32 degrees!! Now the schools broke up today and down comes the rain for the last 5 days. Hey ho.
Keep in there girl, we'll get there one day!!!!
|
|
