[2boyzmama]

Everything was either normal, or very very close to normal, and those levels that were off complimented each other (for example, erythrocyte sediment was slightly low, WBC were slightly high, which suggests he was fighting off some sort of illness, not all that surprising) Hemoglobin was slightly low, but for him was good (10.9) Prealbumin was 0.1 below the normal range.

Stool was normal, allergy tests were negative, electrolytes normal, thyroid normal, pancreatic enzymes normal...

So basically, he's fine. No signs of nutrient deficiency, no signs of malabsorption, no signs of any issues at all.

In a way this is great news, because it most likely means that he's a healthy, albeit very small, 2 year old. Normal for 22q. On the flip side, though, there's also nothing we can "treat" or "fix", which is good, but still means we have to deal with everyone THINKING he's failure to thrive, and constantly explaining ourselves.

I have to decide now...he has a follow up in 3 weeks with gastro...do I take him, take all the 22q specific research regarding weight patterns, take the email correspondence from the renowned expert in 22q to the gastro and try to educate them? But potentially deal with them saying "yeah, he shows no signs of problems, but we still think this and that...", or do I cancel the appt and just not go back. He won't drink the Neocate Jr (I don't blame him, the stuff is nasty!), we already are nutrient packing his diet where possible, not sure what else they could recommend that we aren't already doing or that isn't contraindicated by his labs and his syndrome's expert.

I don't know...I have three weeks to decide. I'm just relieved that the labs showed what I truly believed, that he is healthy from a nutrition stand point. Whew.

 

[sbgrace]

I'm glad the labs look good! Is he failure to thrive on the growth chart? If so did the gastro order the tests based on that? I guess I'm thinking that I wouldn't just cancel when in they're thinking he's failure to thrive if they are. Seems risky. If he's on the growth scale I'm not sure what they would do at this point/I agree/I'm wondering why the labs.

I'm also a bit confused--how do those labs show he's getting enough calories to grow or catch up grow or whatever? I think in retrospect Andrew was failure to thrive because he had a high metabolic rate. His labs were good. We were feeding him as much as he would eat. But his growth chart wasn't. Do 22Q kids have higher metabolic set rates? Growth deficiencies? What is the cause of the low growth? If he's typical growth for a child with his syndrome it seems that would be enough to make them back off to me? Why are they running the labs in that case? Maybe I missed something--I feel like I did.

Can you flavor up the neocate jr? Add it to a smoothie? Freeze into a popsicle?

Have you done a calorie/fat/protein intake count recently? Do you know how many calories he's getting?

I guess I'm sitting here wishing we had done more when my kiddo was young and failure to thrive. Our ped. was a stink and by the time she finally referred us to gastro he was on the chart. And if the feeding/growth stuff is stressing you out that's something else to consider.

But if he's getting enough calories and he's growing as expected for his syndrome (as if I'm reading right is the case) I think I'd take that information with me to the appointment rather than cancel.

 

[sbgrace]

Oh--why neocate Jr? Is he food allergic? If his diet is restricted by severe food allergies all the more reason to have a nutritionist make sure he's getting the calories (and protein) he needs. Oh, I speak from experience on that matter.

 

[2boyzmama]

I can't remember if you saw (responded) to my thread last week about the gastro appt. Yes, he "officially" is failure to thrive, is not on the CDC growth charts at all, hasn't been for a long time (since he was about 5-6 months old). In the past 5-6 months he's been getting slightly out of proportion weight for height, so I decided to take him to a new gastro I had heard about to get more labs drawn to make sure we weren't missing something (malabsorption, something metabolic, another food allergy, thyroid, etc)

The appt was rough, I got very defensive and then started doubting myself. But in the days after the appt, I was able to make contact with the renowned expert his his syndrome (Dr Shprintzen), who plotted Connor's growth for me and said that he's in the 25th% on the 22q charts and his weight and height ARE proportionate on those charts. Dr S talked to me more about how the tendency is to increase the volume of feeds for these kids, which they don't tolerate, so they end up on feeding tubes, and it often has negative effects (messes up their digestive systems more because they often has digestive hypotonia and just can't handle the volume). He is as anti-interventionist as I've ever seen any dr to be, and really tries to find ways to make these kids as less medically dependent as possible, which I really like!

And yeah, we've done several food logs with several nutritionists, although none of them specifically well versed in 22q. THey've all come back "adequate" (I don't have numbers in front of me, I left them at my desk at work because they were faxed to me there). We've become quite the sneaky chefs, hiding veggies in a lot of his foods, adding oils, etc.

The problem is that the gastro was not very well versed in 22q, and can't quite get past the paradigm of a 22 pound 2 year old being "wrong". By all accounts he's happy, healthy, sociable, making significant developmental progress, sleeps well, eats well, looks good, etc etc. I would love it if he had more weight on him, because his immune deficiency makes him so susceptible to illnesses, and it takes him a while to recover, and I think that some extra reserves would be helpful. THat's why I took him back, to make sure we weren't missing a medical issue that would help him gain more weight.

But it doesn't appear that there's anything underlying. He's just a normal, small, 22q kid.

Oh, and we did get the chocolate Neocate Jr, for the first day or two he drank a few ounces, but after that he was desperately thirsty, but wouldn't drink anything. So I stopped giving it to him, gave him his almond milk in an open cup (no sippy lid) so he could see it was his "regular" milk, and he started drinking again.

 

[2boyzmama]

We tried the Neocate because he doesn't tolerate dairy or soy, his reactions are reflux and diarrhea. THrough trial and error we've discovered just how much he can handle before he starts showing symptoms, so he does have trace amounts in his diet, but not much.

Dr S's research also shows that tube feeding 22q kids does not show any difference in long term growth or development, he provided me with a paper on that which I think will be very helpful. I do realize that if he were to get sick again with an illness that really knocks him down, we might have to do a temporary ng-tube to get him through that illness, and that's okay, but we've been riding the line of needing/not needing a g-tube since he was 4 weeks old, so finding this new research has been comforting.

It's very frustrating to me that 22q is the second most commong genetic syndrome (second to T21) yet there's not much information readily available and not many drs are familiar with what information IS out there

:

 

[sbgrace]

Well

. It seems to me that 25% for a 22Q kid (not just this doctor without intervention approach but typical 22Q kids right?) is enough to make them back off. And if he's getting adequate calories and protein what are they going to do with a tube?
Dairy/soy is tough (been there/done that). Where is he getting his protein?

This sounds really frustrating. But if you got a sense they are thinking he's not getting enough or is failure to thrive and you need to take a specific action I'd not cancel that appointment. But I would bring all that you mention--particularly the growth charts and records from nutritionists. I guess I should find that past thread...I made you repeat stuff...sorry.