Let the Trials Begin!

[Chelsea]

It appears as though I may be bidding a fond farewell to you all. I was finally able to connect with the genetic counselor today that gave me the results, though they have yet to be interpreted by our Dr because he is out of town until next week.

Her aldolase activity was normal. Her F1-6D was actually elevated. We do not know what this means exactly, is it a problem it is elevated or is it elevated because of her fructose free diet? But then wouldn't we see that we the aldolase too. We have to what for more explanations on that one.

Her pathology report came back with liver fibrosis, so we do know we are at least focusing on the right body part. I feel like at least we know something.

We still know it's metabolic, we just don't know what, perhaps we go back to glycogen storage or perhaps we never know.

I am planning to introduce some fructose foods starting today. I know there is still the chance of DFI with a completely separate metabolic component so I will go slowly, watching closely. But seriously what are the chances of that?

I can't help but to think somewhere in this her kidney disorders have to come into play. I guess we will see where that takes us too. For right now, she is doing so well, I am ready to take a break from it all.

If I learned one thing here, it is confirmation of this disorder is essential. While we had many of the markers for FDPase, so clear in fact the Dr didn't want a biopsy the entire first year. I really truly feel we did the right thing moving forward with the biopsy. What scares me most is what did we miss this past year treating her for the wrong thing? What would have happened had we let it go on longer than this?

Okay it's alot for me to take on right now, I think I need to go have a good cry and give my baby a banana.

[Tammy]

Wow, is that a surprise.
I completely agree that it was worth the biopsy to find out. And your questions are so right, about what you may have missed this past year.

BUT one thing I feel strongly about. Please don't bid us a fond farewell. At least check back in here and let us know how she is making out. Maybe she won't be on the same diet as here, but we still have grown to put her in our thoughts and prayers. She is such an adorable little thing. Keep us informed. We still care, even with a whole different diet.

Did you ever get any more info on coming to PA with the other group? Let me know when / if you do.

[Chelsea]

Oh your not going to get rid of me that easy, lol.

Last night may have really reinforced that! We were up several times last night with "ouchies" . Partially her belly, partially her leg, whatever it was it was a long night.

First thing this morning she asked for a banana. I went ahead with it and will move slowly with the trial. Not to say it won't make her feel crappy. I have to keep in mind these foods are going to be new to her body anyway, so an occasional tummy ache ain't going to be unheard of.

If she does have a metabolic response to low fructose fruit (which is where my trial will begin) then I will probably have to lean toward the glycogen storage disease because that is a fructose elimination diet. If she doesn't react to low fructose fruit I will move into vegetables then protein foods (nuts, legumes, etc). Depending on when / if the metabolic response happens it will tell us where to go.

Somehow, this HFI diet has done well, but not for HFI reasons. So now I need to find out why it worked. I can continue to put her through endless medical tests or I can trial food and see if I can get an idea of where to go next. I have such a fabulous care team on my side I am not worried about a medical trial at home. I actually emailed the pediatricians at our local hospital (where I work). They know Gillianne very well from her 4 admissions last year and are well prepared with her history, her needs and our progress.

I will let you what happens.

[Chelsea]

There are several types of GSD, the one that our Dr had previously mentioned is here.

www.agsdus.org/html/typeivongierke.htm

You will see many similarities and it would be easy to see why a similar response would be seen with FDPase. I think the main thing that lead us to FDPase over this was the glyceroluria. I don't think the GSD would explain that. In addition to fructose restriction, galactose would also have to be restricted. Since Gillianne was suspected of a dairy allergy she was completely off dairy and was only able to tolerate small amounts once she was fructose free for some time.

I am hoping they can still use her liver sample to rule out the GSD.

[Chelsea]

Everything I know from my lactation world is the only disorder incompatible with breastfeeding is galactosemia. I cannot explain it further but I do have an email into the powers that be (ie, my lactation educator mentor). Perhaps it's because the increased protein content of breastmilk over cows milk.

They did do urine organic acids on Coley, correct? It's a mass spectrometry test so it's not something that is individually looked at but rather found during the mass spectrometry. But glycerol isn't always present with FDPase but from what I read is specific to FDPase. So as you mentioned earlier, the far fetched world of "is this something that has never been identified". I guess it shouldn't be that far fetched, we do after all have Fred here.

Gillianne's repeatedly showed glycerol but during the last time they also showed methylmalanoic acid and glutaric acid. Nobody has ever been concerned about these as it was only once but I do suspect the Dr will repeat he urine organic acids yet again to see if those have increased.

He is back on Monday but I really don't expect him to contact us. I probably won't hear anything from until we see him on December 13th. The genetic counselor did leave note of the results for him as well as we are moving forward with fructose challenges. If he doesn't want us to do that I am sure we will hear from him sooner.

[Chelsea]

We are doing very well, thanks. She has done well with banana's, a little too well actually, she won't stop eating them and asks all day long for more banana. She had a few strawberries the other day as well.

Last night, DH gave her corn at dinner. My plan was to work through the fruits first and then on to vegetables but I guess this got lost in translation with DH. 3 months after restriction she was given cornbread and ended up puking all night. So last night she had some frozen corn and she did sleep a little restless and woke up screaming but we haven't seen tummy aches, vomiting or bad bm's and most important no ketones. We will continue to move forward and see where things take us.

I haven't heard from the Dr but I really don't expect to until our visit on Dec 13. My goal would be to have her on a normal diet by then and have her healthy.

We shall see.

[lisa]

Chelsea,
I am so glad that she is tolerating the new foods so far. I hope they continue on that way and that you find out soon what is really going on. Your and Kristen's description of the possibilities is mind boggling. Every post seems to give me something else to look up and learn. It almost feels like being back in school.

Kristen,
I am so happy to hear that your milestone is coming up and hope it sails by quickly. If I ever got pregnant again I'd need some serious counseling and I am so relieved at how well you seem to be doing.

Prayers and hugs go out to you both.
Lisa

[Chelsea]

Her overall appetite is really very good. We went to breakfast the other day for my Birthday and she couldn't shove the food in fast enough. But we haven't included many fats yet. She has really self limited her fats over the past few months. She won't eat meat or fish anymore and has cut way back on eggs and cheese. Her biggest fat intake is the sauce on her pasta, either pesto or alfredo and yogurt every few days.

We did do a weekly weight and she has broken all my expectations, she is up to 25 lbs, which is crazy for her. She has gained almost 10 lbs since we started the fructose free diet 11 months ago. She is on the growth charts for the first time since she was 9 months old. I have to admit though, 6 lbs has come in the last 4 months since being treated for her kidneys, so it all comes back to that.

I am really leaning more towards glycerol intolerance syndrome but I also know my Dr doesn't really believe it exists outside the realm of FDPase (even with FDPase he was skeptical). I am going to talk with the nephrologist because I did read about GIS in combination with Fanconi's syndrome which is a kidney disorder. Fanconi's would also explain her renal tubular acidosis. If it could explain the ketonuria and glyceroluria then we may get out without a organic acidemia diagnosis. Okay that is my brainstorming session for the day!

I plan on taking my 3 day diet diary into the nutritionist for now when she is eating fruits and vegetables without problems and again once we do fats, if she has problems with it.

I think my next step is to hit the legumes and see where we go. I also ran out of dextrose for bread and basic so we will be trialling that this week as well.

Kristen, Congrats on your milestone. I am sure it must be difficult to get past that day without anxiety so I wish you the best.

[Chelsea]

Well I spoke too soon!

I let Gillianne have yogurt this AM, one of my gingerbread yogurts, which are yummy. It has molasses as a sweetener.

Tonight after having pasta with butter and parmesan for lunch and pork and bread (safe) for dinner, she started vomiting.

She also lost control of her bowels and pooped on the carpet. Though it wasn't diarrhea it was not her typical rabbit poop. Sorry for the graphics.

I am at this point, crossing my fingers for the flu. Tis the season afterall. We shall see.

[Tammy]

Chelsea,
I'm crossing my fingers for you too.
We just had that same question Monday night. In the middle of the night, Regina got up and was vomitting. Of course the first thought is "what did she get?". No headache (for HFI symptom) but no fever either(for the flu). Just the one incident, and she was fine. Only to take her to the sitters the next day where she said that all the other kids were sick last week from the flu.

Would be quite the coincidence for you, though still a possibility.
At least you may know by the time of your Dr apt.