Today's Dx: Failure to Thrive UPDATE pg 4 - Page 2

[suprgrl]

We are back from the lab, and it went better than expected. The drive there went well and he never made much of an indication that he was hungry. They did have to stick him three times and by half-way through the third time he was very upset and screaming. At first they were afraid they had not been able to get enough blood, but then when the lab got it they said it was find. Yay!
So, now we just have to wait for the results. That is going to be really hard. But I'm glad the whole thing went fairly well. I nursed him through the last part of the blood taking, which helped just a little bit.
So now we wait.....

[orangecanoe]

My 4yo has DCD which is also known as dyspraxia. It can definitely play a role in feeding and gross motor issues. If you find therapists that are well versed in dyspraxia, it can make working on the physical issues easier as there is a different way kids with DCD tend to learn best.

[suprgrl]

UPDATE:

I called our Dr. yesterday because I noticed some lymph nodes in Ezzy's groin area that I had not felt before. I could even see them bulging under the skin (he is skinny). So they set us up for an appointment today. I wanted to make sure they had all his lab results from last week, so I asked the nurse to check. I then called the lab where he had them done to make sure they had been sent. Then I called the Dr's office back and left a message for the nurse that the lab had sent the results.. call me back if you still don't have them. No call.

So we go today. No weight gain in the last 1.5 weeks. The Dr. said she feels like his lymph nodes are within normal. She pulls out the blood test results and explains away all abnormal results by saying he was crying during the draw, or that he must have been fighting a virus (asymptomatic). She said she thinks his delays might just be because he has to wear a special helmet for his craniosynostosis. (Ezzy's surgeon disaggrees, but evidently the ped doesn't care) She wants us to meet with the PT from early intervention to get her opinion before we decide if we need to do anything else. She felt like metabolic and mito issues were ruled out based on the blood test results. I brought up that the lactate/pyruvate is not always accurate in showing mito issues, and she said "well, being a generalist, I am not able to keep up on the recent literature of rare disorders" So, I was in shock and the Dr. just walked out of the room and that was it.
So I got a copy of the blood work before I left and asked them to mail me a copy of his whole chart.
Then when I am almost home (1.5 hour away) I realize that we never went over the urinalysis! So I call from DH's work (I had to go there to pick up DS1) and ask the lab to fax me the results. I then had to go home. When I get home and look at the results it shows there were abnormally high levels of ketones and bilirubin in his urine! So I call the Dr. and find out that they never even had the urinalysis results! Even though I was told they were successfully faxed on the 29th.
Anyway. So, I will personally fax the urinalysis to the ped in the morning so she can see them. I can't imagine she will say nothing is wrong with DS1 with ketones in his urine. If she does, she's a quack.

So here are the numbers of what was abnormal about his labs. Please give me your wisdom, wise mamas:
Chem 12:
TCO2: Low 13 (normal 17-28)
Anion Gap (calc): High 18 (normal 5-15)
Creatinine: Low 0.4 (normal 0.8-1.3)
AST (GOT): High 42 (normal 0-37)

Lactate&Pyruvate:
Pyruvic Acid: High 0.17 (normal 0.08-0.16)
Lactate: Normal 1.1 (normal 0.6-3.2)

CBC
Platelet count: High 413 (normal 150-360)
Lymph: High 77 (normal 46-68)
The absolute lymph was within the normal range, but just barely 6.9 (normal 2.5-7.0)

Thyroid Stimulating Hormone was normal 2.66 (normal 0.6-6.5)

Ammonia was normal 54 (normal 18-72)

So anyway. I feel so stuck right now. I am not sure what to do. I know there is something wrong with my baby, and the more I read, the stronger I feel like it is some time of metabolic or mitochondrial issue that was exacerbated at the time of his surgery due to all the drugs that his little body could not handle. I get so pissed that my Dr. doesn't seem all that concerned. You can see my baby's ribs! His skin sags on his body and he is behind developmentally. I don't get what she wants to see? Seizures? Regression?

Please give me any insight you might have. Is it really possible that I am just driving myself crazy and this really is nothing?

Ronna

Also, here are his growth charts:
Weight
Height

[wonderwahine]

if you get the brush off again, get copies of all the medical records and tests, an search/hunt down any dr who will listen...... on the phone mention the ketones in the urine. you could also try the ER if you are worried and cant get anywhere

[irangel]

Originally Posted by suprgrl

So here are the numbers of what was abnormal about his labs. Please give me your wisdom, wise mamas:
Chem 12:
TCO2: Low 13 (normal 17-28)
Anion Gap (calc): High 18 (normal 5-15)
Creatinine: Low 0.4 (normal 0.8-1.3)
AST (GOT): High 42 (normal 0-37)

Lactate&Pyruvate:
Pyruvic Acid: High 0.17 (normal 0.08-0.16)
Lactate: Normal 1.1 (normal 0.6-3.2)

CBC
Platelet count: High 413 (normal 150-360)
Lymph: High 77 (normal 46-68)
The absolute lymph was within the normal range, but just barely 6.9 (normal 2.5-7.0)

Thyroid Stimulating Hormone was normal 2.66 (normal 0.6-6.5)

Ammonia was normal 54 (normal 18-72)

So anyway. I feel so stuck right now. I am not sure what to do. I know there is something wrong with my baby, and the more I read, the stronger I feel like it is some time of metabolic or mitochondrial issue that was exacerbated at the time of his surgery due to all the drugs that his little body could not handle. I get so pissed that my Dr. doesn't seem all that concerned. You can see my baby's ribs! His skin sags on his body and he is behind developmentally. I don't get what she wants to see? Seizures? Regression?

Please give me any insight you might have. Is it really possible that I am just driving myself crazy and this really is nothing?

Ronna

Also, here are his growth charts:
Weight
Height

Creatinine, lower is better, it means the kidneys are working well. If it's high, that's when you want to get concerned. Also, the platelets at that level are not going to concern a doctor.

One thing to remember is that all labs have a different reference range so any figures that are just barely out of the normal range are typically ignored. Not saying that's the right way to handle it necessarily but it seems to be common that unless the value is significantly out of the normal range or over a period of time is slightly outside the normal range, doctors don't seem to care. Then you have values that may be elevated but unless it's tied with other symptoms and lab values it's deemed insignificant.

It sounds like your doctor should have taken more time to go over things for sure but it doesn't look like anything is horribly wrong.

[mamaverdi]

Low creatinine CAN signal muscle disease or muscle wasting. But in this case, the range is an adult range. .4 is normal for a child his age.

The pyruvate is signficant. ANY elevation in pyruvate is significant AFAIK.

You need a specialists help.

[my3peanuts]

The anion gap is a bit high. The low Co2 is significant IMO too.

FWIW, my son's pyruvate is .22 and no one has batted an eye. And he's seen real famous specialists.

I agree it sounds like something is going on.

[mamaverdi]

Anion gap is high especially if it does not include potassium. Plus, his lactic acid is not elevated with a high anion gap which is indicative of more complex issues.

And specialists often disagree, just so you know.

[irangel]

Was this all looked at by a regular pediatrician? Have you guys not seen a GI for starters since the main symptom is lack of weight gain? A pediatrician isn't going to know much about what these results might mean.

[irangel]

Originally Posted by my3peanuts

The low Co2 is significant IMO too.

It definitely may be and I hate to sound like the doctor but that can be affected by the circumstances of the blood draw. We've had several CO2s come back low for this reason and when we re-drew they were normal.

[suprgrl]

Wow this gets confusing!

About the waiting to see his blood test results over time: My kid is wasting away! I get scared there isn't time for waiting. I don't want him to start having seizures or regressing because the doc wants to take a wait and see approach. I have seen enough and am convinced there is a problem.. so is anyone who knows him.

No we have not seen a specialist of any kind other than his neurosurgeon who referred us back to our ped when I brought his lack of growth and development up. Our ped won't refer us to anyone cause she wants to believe this is all just because he wears a helmet. According to the surgeon and the orthotist Ezzy's issues are abnormal and he has fallen off the curve of helmet wearers.

I have already asked for copies of all medical records from his surgeon and ped. They are all suppossed to be on their way.

I need to put together a plan for what to say when I talk with the ped's office today. I just want them to take this seriously! My baby's ribs are sticking out for goodness sake, how could they not think there is a real problem here!

[suprgrl]

Originally Posted by irangel

It definitely may be and I hate to sound like the doctor but that can be affected by the circumstances of the blood draw. We've had several CO2s come back low for this reason and when we re-drew they were normal.

Yeah, that is what the ped said: that they may have been low if he was crying.

[mamaverdi]

Okay, well, after I read the whole thread, I'll make some recommendations based on my own experience:

1) Get a new ped.
2) See only pediatric specialists
3) See a ped GI (as Emily recommended)
4) See about finding an osteopath who does cranial sacral therapy
5) Take a deep breath or 7. Don't get ahead of yourself. Stay in the moment, and this way you can both enjoy and help your baby.

[my3peanuts]

I agree the Co2 can be low due to other, non important circumstances. I was just throwing the thought out that it might NOT be do to something non important too. IME specialists that aren't equipped to deal with these kinds of issues tend to brush everything off as, "it's probably because they were crying, it's probably because of something they ate, etc" or the infamous "it's likely LAB ERROR".

Sometimes slight abnormalities can be significant. Sometimes not. I know it's very hard to know which. If you have lots of slight abnormalities chances are they mean something, even if they're just barely above or below the reference range.

[sbgrace]

You need a new pediatrician. Not because she doesn't understand metabolics (none of them do, even the really good ones, because the field is so specialized and complex) but because she doesn't listen when a parent is concerned about their child. That is a huge problem. One that did cause damage to my son.

What she should have done is referred you to a specialist. Ketones are sort of good by the way. We all make ketones when fasting for long periods of time. Low ketones in a fasting situation is damaging. My son runs high ketones with even short fasts perhaps due to his metabolic stuff. That does have issues, yes. But we'll take it over none/low!

My suggestions other than find a new ped.:
See a pediatric GI. Try to find who is the best one in a reasonable driving distance. I'd drive up to two hours though (more maybe if I had to) to get to someone good. You need a full GI work up.

See a specialist in metabolics. I don't know where you are but I would travel to the closest good one I could. Parikh in Cleveland, Ohio. Dr. Koenig in Houston are both good with distance consulting I believe. We traveled to see Parikh (about 6 hours). He did initial mito testing, recommended follow up testing (very specific and helped along the way) for our local doctors, has interpreted all the follow up tests, and has made treatment decisions, answered questions, etc. There are others too though I'm not sure about follow/distance consulting. At any rate, I would want to see someone good. Many have flown to see people. I believe there are ways to do that less expensively through special medical flights. I'd do that if I had to.

[suprgrl]

So, how do I find a new ped? We chose our current ped because she is good with our no-vax status, intactness, and extended breastfeeding. We travel over an hour to see her. The moms I have talked to here get aweful advise from their peds. But it would be nice to have someone take my concerns seriously.
We live in central Virginia, so Cleveland may be a possibility. I will give them a call. My insurance requires a referral to see a specialist, though.
Tell me about a pediatric GI. What would a GI workup show us?
I would love to do cranial sacral, but the closest one is nearly 2 hours away! We just don't have the time or resources to travel that far for a treatment we would need to for pay out of pocket.
About the ketones. He was not fasting at the time of the urinalysis. He had eaten three times in the 5+ hours between the blood test and the urinalysis.

Ronna

[mamaverdi]

I will say that it can be very very challenging to find someone who meets both NFL criteria and is medically helpful and savvy.

Call the closest children's hospital for referrals to peds and ped GI.

I find that looking for someone who has been around awhile >25 yrs is good, but young enough to not be retiring next year and to keep up on research.


Something as "simple" as reflux can cause fairly severe FTT.


Ketones are toxic if there are too many; your body can't run properly with too few. I think Rachelle's advice of eating a balanced diet is accurate, as well as not forcing the child to eat what they don't readily accept.

Also, you should start making ketones after approx. 12 hours of fasting.

[RoadWorkAhead]

DD hadn't dropped that far off the charts before she was tubed, and a tube was a necessity by then. I can't imagine not being concerned byt hat chart....Call me crazy, but thats a pretty long lasting static period. I don't know what a GI would know right off, but they'd be worried about getting calories in however was needed and the growth for sure. Heck, our soon to be former GI is willing to not worry about whats wrong with DD now that she is stable and growing with the tube. Thats their only concern.

[MotherWhimsey]

it's probably cause she's still gaining height. A lot of GI's don't worry until both stop.

[suprgrl]

A little update.
I faxed a brief medical history of Ezzy including growth charts, and lab work to Dr. Sumit Parikh in Cleveland. He looked it all over, and his RN wrote me back to say that he recommends we see an endocrinologist and geneticist. I am so happy to at least hear someone's professional opinion!
Our ped finally got our urinalysis results today (my husband faxed them again this morning), and I was told I would receive a call from them by the end of the day. So I am waiting by the phone. I am really wanting to talk with them and ask for a referral to a specialist.