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Don't know where to go, or what to do. - Page 2

post #21 of 73
I didn't recommend going to a geneticist .... well because the ones in my area are completely incompetent. Maybe the ones in yours aren't? But bri276 did find a good one I think!

Eta: having a microarray done is not a bad idea.
post #22 of 73
yeah. but at least sometimes if they know specifically what they're testing for- like dwarfism- it's better than when you're going in and saying "here are symptoms xyz, please test accordingly." b/c most of them just aren't experienced or don't care enough to find the right things to test for. but in this case I think it couldn't hurt because we already know that both parents are carriers.
post #23 of 73
True. But they can be so incompetent.
post #24 of 73
Thread Starter 
You women are amazing - I'm just so happy to get these leads. I felt totally lost and frustrated...I feel like time is passing us up, and he is just getting further and further behind.

Mamaverdi - thank you for those panels, I'm printing out and taking to the ped.

Here is a more detailed history:

Birth: quick, uncomplicated waterbirth. poor latch, didn't really know how to suck. we worked with him on his latch, and finally by day 3 he figured it out.

Day Four: He had some apnea episodes where he turned blue, and went limp. We went to the hospital and did an overnight study that revealed nothing. He continued to have some choking/gagging issues while nursing that I chalk up to oversupply issues.

Month three: First nursing strike. We too did the feed while sleeping thing, that was the only way to get him to eat. It lasted a couple of days. He has always refused a bottle. He started being REALLY picky about how/where he would eat.

His growth really slowed down around month three, just seemed to plateau. I think he gained like 1 oz in a month, it was frightening. Since then he is gaining, but very very slowly. A month ago (around month 10) he gained 12 ozs in one week when we went onto a "schedule" of three solid meals a day, but then he stopped gaining after those two weeks. I don't know what is up with that.

Sleep: terrible. Up sometimes every hour crying. He snores. Loudly. It actually keeps me awake. Sometimes he has great nights, but I can't put it together as to why it is so unpredictable. He is often tired & cranky, he just seems subdued. Not all the time, but fairly often.

I'm trying to remember if there is anything else.
post #25 of 73
Thread Starter 
Oh...one more question:

Can you tell me what type of metabolic disorders there are? Any specific syndromes?

BTW - my husbands family has lots of strange thyroid issues, so Ped eliminated that one pretty fast...



thank you thank you thank!
post #26 of 73
I could almost without a doubt say your baby has a metabolic issue.

Look at DAY FOUR.

Okay, breathe. (This is a reminder to me and to you.)

Did they run blood on your baby on Day Four?

Did you do the newborn panel? What state are you in? What tests did they run? I mean the PKU, etc metabolic testing panel.

Did you take anything at all during or to start labor? I see it was an HBAC?

Was there anything strange about his bowel movements?

Are his tonsils big?

Fatty Acid Oxidation disorders is what I would start with.

From there I might consider others...

You want a cholesterol panel too.
post #27 of 73
What was the overnight study?
post #28 of 73
Here are two screening panels:

http://www.pediatrix.com/body_screening.cfm?id=1681
http://www.baylorhealth.com/medicals...ing/packet.htm

Call the Baylor number and ask if they screen for CPTII which is not on the pediatrix test.

Also, what are the thyroid issues in your husband's family?

What were the liver panel results from your baby?

What is the gene that is "carried" affected in your child?

Most children with metabolic disease have a metabolic crisis around the time they are born.
post #29 of 73
Thread Starter 
Quote:
What was the overnight study?
Basically just hooking him up to a monitor to watch respiration + heartrate to track any more stop breathing episodes.


Quote:
Did they run blood on your baby on Day Four?
Nope.

Quote:
Did you do the newborn panel? What state are you in? What tests did they run? I mean the PKU, etc metabolic testing panel.
We did the PKU, that's it. We are in Wa, so it is required.

Quote:
Did you take anything at all during or to start labor? I see it was an HBAC?
Nothing.

Quote:
Was there anything strange about his bowel movements?
Never curdy, always greenish. Not greasy or stinky (or at least, abnormally stinky!)

Quote:
Are his tonsils big?
I've never noticed, but he DOES have a chronic cough.

Quote:
Fatty Acid Oxidation disorders is what I would start with.
We are on it - thank you!

And I forgot about Angela's question about medications: I tend to react strangly to opiates, antihistamines, they amp me up. And uppers calm me down...
post #30 of 73
Quote:
Originally Posted by starparticle View Post
Can you tell me what type of metabolic disorders there are? Any specific syndromes?
Well, there are over 1500 identified metabolic diseases. They are divided up in to 6 or 7 basic groups....so ...lemme see if I can find a good link.

I think you are look at one that includes apnea, FTT, and fasting intolerance.

Has he ever appeared to have blood in his diaper?

BTW, you can PM me anything you don't want to post on the board.
post #31 of 73
www.spiralnotebook.org/justsayno

Are these drugs the ones? Scroll down.
post #32 of 73
www.fodsupport.org

http://www.baylorhealth.edu/imd/clinicaltests.htm (This is what to give to your ped...to look at where to order from.)

Flax oil is what chain fatty acid?
post #33 of 73
Do you know in WA what else is in the PKU test?
post #34 of 73
Okay, flax is LONG chain. STOP giving this to your baby.

Start mixing in Olive oil, but after you have the blood work done. And avocados. Monitor his weight and any signs of reactions to these.

Also, eliminate long and very long chains from your diet as well. This includes algae (caragenan is seaweed...slightly different, but can cause problems) and fish, as well as palm oil, flax oil, castor oil.
post #35 of 73
So do you go to Seattle Children's?

http://depts.washington.edu/genediv/ctrahms.shtml
post #36 of 73
Thread Starter 
I'm digging up all the metabolic info - thanks! Totally ready to sit down with the Ped ASAP and get these things ordered...and I will stop with the Flax. What do you think about coconut milk and avocado?
post #37 of 73
Thread Starter 
Quote:
So do you go to Seattle Children's?
Yes, our ped is the medical director at the main clinic. I could get a referral to anyone there fairly quickly.

Thanks for the note about the chains. Will do.

Can I ask what disorder your son/s has?
post #38 of 73
Here is what your state screens for now:

http://www.doh.wa.gov/ehsphl/phl/newborn/disorders.htm

This includes MCAD...so probably you can rule this out. But it sounds more like a long chain or CPTII problem.
post #39 of 73
Coconut is medium chain. Washington tests for MCAD, I think coconut would be fine, but not really that helpful. I would go with coconut oil.

Avocado is high in carnitine. When we started feeding our son olive oil and avocado, he started miraculously gaining weight.
post #40 of 73
Quote:
Originally Posted by starparticle View Post
Yes, our ped is the medical director at the main clinic. I could get a referral to anyone there fairly quickly.

Thanks for the note about the chains. Will do.

Can I ask what disorder your son/s has?
You could ask, but we don't have an answer yet.

It sounds like you have a good ped (I : my ped.)

I have two sons, and both are affected. One son definitely has a carnitine deficiency and reacts to drugs on the list and reacts negatively to long chain fatty acids. The other reacts to several of the drugs on the list, as do I, has a fasting intolerance, and gets constant gram - and gram + infections if his donor milk is taken away. He also has evidence of having had rhabdomyolysis as well as compartment syndrome.

I recommend working through the Dallas Baylor lab if you can get your doc to do it. And if you can swing the cost (they don't take insurance)...though insurance will reimburse.
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