A Devon update

[newmothermary]

Hi all,

The latest geneticist we saw at NYU a couple of mos. ago suggested an emg to check for muscle issues. It is her opinion that D does not present like a child with muscle issues but it is less invasive than a muscle biopsy and it can offer a lot of information. It is her opinion that D presents like a child with central hypotonia. Anyway, we had a consult. appoint. today with Dr. Chu, a neuro who is a neuromuscular specialist at NYU.

The dr. was very friendly and not at all the dry neuro type. She (dr.) looked D over from top to bottom and asked the usual million ?s about my pregnancy (wonderfully normal) and about our family history and whether anyone had any nm disorders or were delayed (no one). She checked D's reflexes (all there) and her head circumference (on the small side) She try to get D to bear weight which she can't on her own yet. Sat D down and try to knock her over sideways(she did better in balancing herself on one side then the other). The dr. noted that she did pretty good.

Unfortunately, she didn't have much to offer about the muscle spasm episodes. As some of you may remember, D has these episodes where her eyes widens and her whole upper body stiffens and her arms stretches out. It happens no more than 1x a night and each contraction lasts about 2 secs. it would last about 5-10 mins before it subsides. Seizures and reflux were ruled out. The first thing that came to the Dr.'s mind was that it was due to D's constipation. Interestingly, another Dr. had mentioned this too. I don't know. I give her prunes and try to get her to drink as much as we can. At 22 mos. she is still too young for Miralax.

I don't know. I just don't know.

Base on the clinical findings, she thinks its possible that D may have a myopathy or a connective tissue issue.
I have to call back to schedule the emg and see what we may find there.

I have to digest the constipation theory. And even the hypothetical dx. of the myopathy or connective tissue issue.

xoxo,
Mary:

[lil_stinkyfeet]

I am sorry for all your going through. I remember going through all the possible things that ds's tone could mean and there are ALOT of them!

I hope you can find some answers soon!

[irangel]

I hope the EMG reveals something. I know for myself it's hard to have tests run and not get answers, even bad ones.

Also this is the first I've heard of a kid being too young for Miralax. I know several children between the ages of 12-24mos that are taking it for constipation.

[AndVeeGeeMakes3]

I'm so sorry for you and for your beautiful girl. How crummy!

About the miralax, Gracie has been on it since at least 16 months.

[MotherWhimsey]

I'm glad you got a good neuro!
Linden has had an EMG. It's not the most fun test in the whole world, but we got answers right away which was nice for a change. His test was abnormal, so it ruled some things out, and told us to look at others. It was a very helpful test.

Linden also has chronic constipation. At night he has 30 minute or so episodes kind of like your talking about, but his last a loooong time. Like last night he had four 30-45 minute episodes. He looks like he jumps like he's been shocked. Then I can tell it's the constipation cause his usually too loose g-button is way too tight. Then he'll scream in waves for 30-45 minutes. This cycle will happen every couple of hours all night long and will happen some during the day too until I give him a suppository.

I also haven't heard that 22 mos is too young for miralax. we usually use suppositories, but if that doesn't work, we hit the miralax. Our GI brought it up as an option when he was just 10 mos old. Maybe since it's over the counter now they just put that on the lable. But your ped should be able to tell you the dose for her size.

[newmothermary]

Originally Posted by MotherWhimsey

...
Linden also has chronic constipation. At night he has 30 minute or so episodes kind of like your talking about, but his last a loooong time. Like last night he had four 30-45 minute episodes. He looks like he jumps like he's been shocked. Then I can tell it's the constipation cause his usually too loose g-button is way too tight. Then he'll scream in waves for 30-45 minutes. This cycle will happen every couple of hours all night long and will happen some during the day too until I give him a suppository...

OMG! Is that right? I swear NO ONE knows what I am talking about when I describe these episodes! And YES, its like they come in waves. 2 dr.s have mentioned constipation but I swear they look neurological in nature.
I hate to ask, but would you happen to have video clips of these episodes?
Devon is in pain when these things happen and I need to stop her pain.

Thanks. I CAN'T BELIEVE IT!
Mary:

[MotherWhimsey]

I'll get a video today if I can and put it up. It might not be the jump at the start cause i don't know it's going to happen till it does.

[newmothermary]

Hi MotherWhimsey,

Thanks so much.

How did you find out Linden's episodes were constipation related. I mean, I think we have searched from here to the moon and back and no one can help us. I am sorry that he is in pain too.

I texted my dh about Linden having similar symptoms and he is just floored. We both are. its like this mysterious thing we've been plagued with.

Mary:

[AndVeeGeeMakes3]

I didn't want to jump on the bandwagon too much because I didn't want to sound dismissive (you know, "oh whatever, it's JUST constipation"), but I wanted to let you know that I watched your video and thought immediately that that's what Gracie looks like when she's having constipation issues. She's older now, so it looks a bit different, but it used to look just like what Devon's dealing with.

I hope it's constipation, just so you'll have some answers. That answer doesn't necessarily fix the problem - Gracie still is frequently uncomfortable and I hate giving her more meds than we already have to - BUT knowing is always just such a relief. So, I'm crossing my fingers and routing for constipation! Strange, huh?

Bless y'all.

[lactationlady]

Just wanted to send some your way Mary. I am hoping and praying that you get some answers soon. It is so, so hard to see our little ones in pain. Especially when we don't know why or how to fix it. Maybe the constipation theory will answer at least one mystery. We haven't needed miralax, as we have been able to mostly control Bekah's constipation with benefiber, but a dear friend of mine began her dd on miralax at 12 months at her pedi's recommendation.

[newmothermary]

Hi Mellanie,
Thanks, I think of you guys often. Hi Rebekah!


Hi kalkiwendy,
WOW. That's all I can say. I have to tell you. When the dr.s mentioned constipation being the culprit, I didn't believe them.

Mary:

[sbgrace]

Mary,
I hope you're getting an answer to at least part of Devon's issues. Constipation sounds a lot better than the other alternatives.

[MotherWhimsey]

Well, we didn't think that it was the constipation causing it cause he will poop some. But he passes maybe a tenth of what he has on his own. Since his is a muscle problem, we have to make sure his stool is soft as well as give him a suppository to start it. And if we skip too many days, we have to dig it out.
We thought he didn't poop much. It took him 2 days to start passing meconium and then he was still passing it at 5 days. So he never pooped well. But anyhow, we had a bunch of GI testing done inpatient. we were there almost a week. Had scopes, biopsies, you name it. Then we were discharged on a saturday and went to follow up with the GI the next week. She stuck a glove on, stuck her finger up his butt and continued talking to me about the testing. Then a few minutes later she said "he hasn't made any effort at all to push my finger out. He can't poop effectively on his own." Basically, he'll poop what gets pushed out by being full. He doesn't and has never strained or anything. The best way I can tell he's constipated is if he stinks. He started stinking at 4 weeks and didn't stop till we had totally cleared him out and kept him that way.
I didn't get a good video, but I'm uploading what I got. I got one video right after he had flipped himself backwards, then I got one in the middle of one of his 30 minute long fits. they come in waves. when they upload, I'll post.
we think he has some irritation from his tube in his stomach, so this is not typical. usually it's just a short crying fit. Right now they are crazy. So I have plenty to video. When he backs up it gives him gastritis, but if he has a little ulcer, that will make it incredibly painful. still waiting on GI to call us back and tell us what the plan is.

[MotherWhimsey]

okay, here's the first. I started taping right after he'd had the "electric shock" part and flung himself backwards clutching his button. But you can at least see how he's flung himself back.
here

And then here in this one he's in the middle of the same episode (it came and went for about 40 minutes). If you watch closely, you'll see his head jerk and he falls over. He doesn't have great trunk control (trunk weakness) so any time anything changes his balance fast, he'll fall over. But for some reason during these episodes, he wants to try to stand up. So we make sure he's somewhere soft cause they consist of him scrabbling up something, jerking his head and falling over.
here

[newmothermary]

Hi MotherWhimsey,
Thanks a bunch again for posting these.
The "electric shock" part is the most similar to D's presentation. Since she is not quite mobile yet and Linden is the rest looks somewhat different.

Wow, all due to constipation huh? Amazing.
I really hope that the G.I has a good plan of action to take next.
Thinking of you guys.

Mary:

[AndVeeGeeMakes3]

Any News???

I've been wondering how y'all were doing. Any improvement/change with the "electric shock" episodes?

[newmothermary]

Hi Wendy,

Devon is still having these episodes.
Interestingly, now we can get her to re-direct her focus onto something else and she is not screaming like she was. Also, she may still have them because the constipation is still chronically a problem. The digestive enzymes are now doing anything for this area.

Now, when she starts having the episodes, (usually starts with a cry and we know what it means) we go to her crib, turn on the mobile with the lights and she'll focus on that and "forgets" whatever it is that is bothering her. She still stretches her arms out, contracts her muscles and has the startled look on her face, but she no longer screams and cries. So, she still has them but they are less intense.

DH is still suspicious of reflux b/c we when she has these episodes, she swallows audibly. We may go for a 2nd G.I opinion and def. ask for the Miralax.

The upside, if there is one is that the pain seems to have lessened.

Thanks for asking sweety.
Mary:

[mamaverdi]

Prunes do not work long term. Blackstrap molasses is a better alternative. That and remove constipating meds/foods, if possible, substituting others.

Unforunately "constipation" does NOT rule out neurometabolic or neurologic issues. They often go hand-in-hand.