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Don't know where to go, or what to do. - Page 4

post #61 of 73
Thread Starter 
Okay, so I've gone back and read and re-read everything, and taken some good notes for my Ped. He already thinks I read too much (as if!) and I think I'll need to book a double appointment ASAP.

I think the lead on eosinophilic is very interesting, it rang a cord with me.

Here is my mental to-do list (just thinking out loud):

1. Ask for metabolic panels (long chain especially).
2. Look at Tonsils
3. Ask about Eosinophilic idea
4. Food allergies, prick test
5. Revisit silent reflux


And I've been thinking about my DD Luna - she had a whole host of really confounding abnormalities. Based on PHYSICAL findings alone, she was diagnosed with spondylothoracic dysplasia - we never recieved back her genetic testing on the DLL3 gene. It was being done for free by the dysplasia team in Zurich, so I didn't really press the issue.

Her diagnosis always seemed a little off - her skeletal findings were in line with STD, but she had a host of other things outside typical STD findings. After reading some of the info on the metabolic issues, I can't help but wonder if there was something else in play. We do still have her tissue samples for further testing if we need - I'm not sure we really want to go there, but if it would shed some light on Leif's situation it might be worth it.

Anyways, I'm really worried about Leif, and so is DH. He is just so fussy and unhappy ALL THE TIME, won't sleep, won't eat, and seems miserable. I mean, he can be happy some of the time, but mostly it is very difficult to care for him. I'm not sure if he is just "high needs" or if something else is going on...I'll just keep pressing forward and see where that gets us.

I can't thank everyone enough! I've read every bit and it feels really good to know that people would give us their time.
post #62 of 73
First, to you starparticle. I hope you are able to find the answers you need to help your son.

My daughter was diagnosed with glycogen storage disease at 18 months. Our pediatrician initally ran some bloodwork at her 18 month well check when she dropped off the growth charts, and when that came back abnormal we quickly had an abdominal ultrasound followed by a hospital admission for further testing. We had a tentative diagnosis in a matter of days. We work with a wonderful metabolic genetic specialist - pm me if you want her contact info.

Oh, and for the record there are blood tests out there for GSD -


We are actually bringing my daughter in today for a blood draw to get her gene sequenced to find out her specific mutation.
post #63 of 73
Originally Posted by starparticle View Post
Anyways, I'm really worried about Leif, and so is DH. He is just so fussy and unhappy ALL THE TIME, won't sleep, won't eat, and seems miserable. I mean, he can be happy some of the time, but mostly it is very difficult to care for him. I'm not sure if he is just "high needs" or if something else is going on...I'll just keep pressing forward and see where that gets us.
I think this is a good reason to keep investigating, just like mamaverdi said I think you should follow your gut. I've never been truly worried about my DD...I knew she was tiny, I knew something could possibly be wrong, but I doubted it...and so far I've been right...she's had a few minor problems but nothing huge.

From the day I got pregnant with DS I knew something was wrong, first I was positive I would miscarry, and then I did miscarry his twin, so I figured that was it, but no, the feeling didn't go away, then I went into pre-term labour at 19 weeks, 21 weeks, 27 weeks, 30 weeks...and so on...but I was able to make it to full term and the feeling didn't go away...then he started having seizures...but that wasn't it either. Finally after getting a diagnosis of autism last week I actually don't have that feeling anymore...I guess epilepsy and autism is it...
post #64 of 73
GSDmama you got very lucky with the geneticists IME. And I'm glad you did.

There are blood tests for specific genes, etc, but I still see in the info from Duke this:


SPECIMEN TYPE: For both GSDI subtypes it requires percutaneous (GSDIa) or open (GSDIb) liver biopsy for definitive diagnosis and for measuring glycogen content. Enzyme testing is not appropriate for carrier testing.
post #65 of 73
Originally Posted by USAmma View Post
I would encourage an endoscopy just to check for irritation from reflux, or another condition called E. E. that can cause similar symptoms. They are treated very differently though.
E.E. is one of the eosinophilic disorders I posted about above, specifically eosinophilic esophagitis. I agree w/ you on this post.
post #66 of 73
s It is nice to see you around, but I am sorry to see you here. I do think of you and Leif alot, especially since he and Tharen share a birthday (and are both PAL babies). I believe it is very important to follow your gut feelings when it comes to parenting. If your gut is telling you that something is wrong, then you owe it to yourself and Leif to push to find some answers. Even if you learn that there is nothing wrong, it is still better to know.

Kearnan was always very small, I think I have told you this before. He was at the 50th percentile from birth to about 2 months and then started falling. He was 17lbs at one year and only gained a pound by 15 months. He gained nothing from 15-18 months. At that time the Dr freaked and we had a bunch of tests. We never found anything. We went through alot of testing before metabolic and nutrition was dropped as being the cause of his lack of growth and behavior problems. But just recently we started seeing a DAN! about some of his issues. We did some different tests, including a stool analysis. We found out that Kearnan has absolutely no beneficial flora in his intestines. In essence he is unable to process his food and his brain is starving. He also has a nasty bacteria colonized in his digestive tract. I don't know if this will mean anything to you or not, or if it is something that you would be interested in looking into, but I thought I would put it out there. What we think happened is that between his vaccines and the antibiotics I took when he was 10 weeks old for mastitis his intestinal flora was dessimated. Then when he visited me in the hospital when Arawyn died he picked up this icky stuff (it is found almost exclusively in hospitals) and now no good flora can grow. His health and growth have been compromised since 2 months because of this. It makes his food taste bad so he doesn't want to eat, and he can't get any real nutrition from it anyway, so he doesn't grow or develop properly. That plus his oral deffensiveness from the reflux has made food a really big problem for him. But it is treatable so he is starting to recover.

I know you have alot of other things to look at, and you don't vax so this may not have anything to do with Leif, but I wanted you to know in case it could help. I also have a recipee for a smoothie that the naturopath recomended when we needed Kearnan to put on weight (at 18 months and again after we tried GFCF and he lost three pounds in one week). It helped him put on weight really quickly, but it won't help with any underlying problems. And I am always here to talk if you want to. s again Leif is a beautiful little boy. I am so happy that he and Tharen share a birthday.
post #67 of 73
C. diff?
post #68 of 73
I'm so happy to see so many Mamas helping you out with this. I wish I could offer some help myself, but I can't. I can only let you know that I have been thinking of you and Leif and hope you get answers soon!
post #69 of 73
Hopping on- DD is 2.5 and we've had many of the same issues with weight/ reluctant eating ect.
So far we've found that she has obstructive sleep apnea. Got the tonsils out and she sleeps 100x better. She's also gained some weight. She's ok with dairy & we have her drink whole milk mixed with heavy whipping cream (it's gross, I know)
She sees an endo in January- her ped GI can't 'do anything else for her' besides her current meds and high cal diet.

Hugs mama- it seems there's a lot of babies here who've struggled with this.
post #70 of 73
((Hugs)) I am right there with you it is so stressful when your baby is sick and you cant find out why.

My son kaden is 7 months and started getting sick around 3 months. this is when he became more active. They still havent given him a definite diagnosis he has been hospitalized 4 times and had many er and doctor visits. I would strongly suggest your peditrician have him admitted to have all the tests done at once it will get done a lot quicker. If they suggest chest xray or ct I would push for an MRI thats going to give them the best picture. I would have your ped prescribe a nebulizer to give him breathing treatments it sounds like he needs them with the chronic cough. They are missing something and they need to do all they can to find out what. You are his advocate and care for him more than anyone in the world and you are obviously trying so very hard. My son is on home oxygen and neb treatments all the time its tiring and last night he was having apnea which scares the crap out of me. Hes been through so much. My daughter weighs 18lbs 2 ounces and she is 22 months old she is just like your son highly active great at talking and signing walked at 9 months etc. I cut out fruit for1 week now to see if she has a fructose problem and she has been going to the bathroom a lot less only once maybe twice a day. I hope you find an answer soon. and if they do a swallow study check out this reflux board...http://www.refluxinchildren.com/ hth hugs good luck
post #71 of 73
Thread Starter 
Hi Everyone -

So we had a big visit with the Ped yesterday, and Leif has lost more weight :

It seems like he is eating pretty well, but he did have a cold last week so who knows.

- We are having the longer metabolic screen done next week.
- We are also visiting the feeding clinic for a feeding evaluation.
- Tonsils are fine.
- Had a hidden ear infection (it has been there for two months), got abx to clear it up. Using probiotics to help counter the nastyness.

The only thing that left me scratching my head was the Dr. noticed how CALM Leif is for any medical procedures. He literally doesn't even seem to notice needle pokes. The doctor said it was sort of suspicious. What is he getting at? Seriously, he just lays there while they work him over.

And then today Leif burned his finger to the point of a huge blister, and he didn't even cry. How can he be so fussy all the time, but not seem to notice these things? Anyone have ideas on this one?

Thank you for all the love and support, it means everything to us right now.
post #72 of 73
Rachel, glad to see you back and that you are getting some info. Kearnan is this way. Or at least he was until recently. He doesn't feel pain, or cold for that matter. He once rubbed his knuckle till they were a bloody mess on the concrete while playing with sidewalk chalk and never felt a thing. He was totally insensitive to painful stimuli. It has something to do with his sensory integration dysfunction. Since he has been getting treatment and in particular b12 shots he can feel pain again. I am not sure how it has helped honestly, but it has. I was just thinking because you mention Leif being very hard to comfort and having feeding aversions. Those can be signs of sensory integration dysorder, as can not feeling pain. Alot of the kids we meet with SID or SPD diagnosis do also have failure to thrive. Alot of times it stems from feeding issues, but also sometimes the things that cause them to have SID also cause them to have trouble gaining. Don't know if that helps you at all or not. s again for you and Leif. I know his birthday is just around the corner now.
post #73 of 73
It could be SID. It could be neurological. I would see a developmental ped who is a neurologist or just a neurologist. This is very serious. And actually could be an answer to other things....

Have you guys visited genetics? Maybe you should....
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