global delay but it could be more

DH and I took DJ to the pead tuesday and its now 'offical' he has a 'global delay' but the pead thinks it could be more. due to DJ not walking, talking or even pointing at things. he's also a "ripped kid" (peads words) as in he's not got any fat on him at all. and this is a child who for brekkie alone eats 4 wheaties or a cup and a bit of oats!

so tomorrow we go for a blood test. the list of stuff to be tested is fairly long, and this is where my fear kicks in. how will they do it? he's a wiggle bum of a kid and he's not good with being held still for...anything. DH and I are going to take him - vic will be minded by my ILs. how do i keep him still? he cant seem to understand us as such...and i know it'll distress him...as well as DH.

we also have to send off for an MRI and come feb. we'll be starting at a special school type thing once a week for phyiso, speech and OT. we also have to book him in for an eye test and a hearing test. and we see the pead again in 6 - 7 weeks (to allow for the bloods to be tested ect)

i have no idea what to expect other then tears...how do you lovely ladies deal with it?

Hey Dansta!

I dont have any advice but just :hug: Ive read a few of DJ's posts (esp in regards to your mother) but just hoping for the best for him now. :hug:

hey Dansta, my DD was originally diagnosed with global developmental delay, now CP. she has had hundreds of blood tests and they have always done a heel ***** or finger ***** (except when she had a line in). she is 3, had a blood test in December and they tried to do it the adult way with the tournaque (sp?!) and needle and failed miserably! she went nuts as soon as it tightened. they ended up doing the finger ***** - took waaaay longer but DD was fine, whinged when they first *****ed her, then was a bit squirmy so we sang songs, she played with a doll and my keys, and was overall not too bad. this was for 4 vial thingys of blood. the lady taking the blood and I had blood everywhere from her wriggling and pulling her hand away, but she was fine lol. for mri's DD still gets knocked out as there is no way she will stay still or really understand what is going on.

DD generally seems to handle tests etc much better than I do, but I think really picks up if I am anxious or stressed by it. She also goes to an early intervention program run by a special ed unit at our local primary school. she gets speechy, ot, physio, and there is a special needs teacher and teacher aide. until she was 3 i went with her, now she goes on her own and LOVES it!

Do you need to get genetic testing done also? eye and hearing tests are a PITA, and we are yet to get a conclusive results cos she is just too hard to assess. in regards to hearing test, too old for the newborn one, and too young (developmentally) for the older child one......HTH

Kane has had a few blood tests, and they put a type of splint thing on... its a solid board with elastic on both ends, they slide it up his arm so he cant bend it.

They have to hold him...:cry:.. but he cant bend his arm and snap the needle into himself!
I find he copes better than me, but we explain everything thats going to happen so he knows. They should give him toys so his head turns the other way from the neele too....
Good luck sweets, I know its awlful..xoxoxoxo

He might cope better than you think too :hug: I had to take DS2 for blood tests when he was just under 2 and I thought it would be awful, but he was so good - he laid there super still and let her take the blood. I just had to hold his arm straight. For the MRI, they will probably sedate him, because even a placid child can move around in them and they are quite noisy too.

I just wanted to say too, that I'll be thinking of you as you go through all this because there will be times when it will be tough and it will suck bigtime, but it will all be worth it in the end when you find out exactly what is wrong so you can help him :hug:

My son has Down syndrome and is tested every 6 months to keep an eye on his thyroid and since he was about 9 months they had done it the adult way without any issues. yes he does cry but we just keep him occupied and they normally give him either a lolly or a teddy after (at his age atm 2.5 they give him either a lolly or a sticker) but they are always so great about it because he has such tiny little veins they get the older lady who has been doing it forever to do his :) good luck with everything. Xo

thanks girls.

i know the MRI he'll be put under GA - the pead did tell us this which im fine about.

the blood test was a shocker. DJ *hates* being restrained like that. the poor kid was screaming while we held him down and more so with *both* needles. as the first one he rotated his arm and it came out. but after about 10mins he was ok. poor DH got to hold his legs and was worried about hurting him - i had to tell him three times to "keep his legs bloody still" now we wait for him to pee into a bag. he did kind of in one - but he some how pee'd OUT of the bag. so the second one is on. then we just wait. and hope he hasn't got pees that can escape - again!

i'm trying to get myself ready for the worst. and i some how have to get myself ready to deal with the "we told you so's " from my folks. yes they wanted this done 12 months ago. but they felt they could do it when ti suited them (inc. DJ having chicken pox) thank god we're moving 2hrs away from that side of things...i hate waiting :-/

What a tough time for you guys, hope you get some answers.

'I told you so's ' are just the worst. Moving away from that sounds positive got your family. I can't understand how anyone could add an 'i told you so' to such a personal, emotional and stressful situation. Poor you. :hug:

since the last post things went slightly different to how we thought. the first blood test meant that DH, myself plus two nurses had to hold DJ down as we needed alot of blood from him and the best way was via the vain in the arm. then a week later another blood test as two came back a little hinky. then about 48 hours after that DJ had a fit. it lasted half an hour (and thats with the use of drugs to top it) and they had NFI what triggered it. so we got booked in for an MRI and an EEG. (i keep typeing Egg the first time :wall: ) the EEG went fine. amazeing how food can distract.

then yesterday they tried to sedate DJ for an MRI. which was a fail. i know he can fight sleep but i thought sedation would knock him out - so we're trying sedation again in a week or two. if that fails we have an MRI booked for June at the RCH melb.

I talked to the pead yesterday about the bloods and the EEG and his words "annoying normal" and has (at this stage) ruled out the fit as epileptic. he said that there was a 'fit' of sorts while they did the EEG but it wasn't picked up on brain waves. he does how ever have alot of Delta brain way activity, but the bloods where all good. so now its a case of seeing if the MRI brings anything to light or not. it could be "just him" so for now we go to the special school (for bubs/toddlers) and treat DJ like a two year old.

Oh how scary, I know a lot of kids with autism have fits as well and often times it isn't until the MRI that they pick up Autism. Its quite scary. When my DD's had their testing for allergies, they had to take 4 vials of blood, around 8mls! I had to lay on top of DD1 and have 3 other people holding her limbs straight as they took the blood.

My DD1 had extremely high levels of mercury (apparently common in Autistic kids), iron defecient and had thyroid issues due to her body not digesting food properly, we also found out she was intolerant to a lot of foods and allergic to milk ... when we took her off all the bad foods she started digesting food and her body got heaps better as well as some of her developmental delays.

The paed said we will probably have to do an MRI at some point, but he is waiting to see if she does anything else to warrant it....

thats interesting christy. i know DJ's bloods where all 'normal' (after the second ones where done) we are only waiting on Vinus gases one to come back (???) but other then that they have nothing else to test him on - other then an MRI. talking to a student nurse on the way out from the hospital he said about a temp. but when i explained what happend he said it could have been the cold DJ came down with that triggered it - but he had no temp (just felt warm but all their temp taking showed a normal temp) the upside is he can now climb onto the coutch or peoples knee's which is something new...now to teach him to climb down in a way that dose not use his face as a brake. :doh:

That must be really frustrating for you Dan, it would feel like you're back where you started almost.

it is tril. But it could change with the MRI, and the venis gases test (not sure what that one is) but until then i can breath and go "yep thats who DJ is" and start to work though that IKWM?

Yep, I know what you mean :hug:

Blood gases measure the level of oxygen and carbon dioxide in the blood. Venous BG are drawn from a vein, as opposed to arterial BG which are drawn from an artery (oxygenated vs deoxygenated blood). So checking to make sure your DS's blood is picking up and carrying around enough oxygen and not building up too much carbon dioxide. BG results can also indicate problems with pH and will be combined with the results of the other blood tests to give a more comprehensive result.

Good luck in your search for answers. Regardless of any diagnosis, your DS is still the same perfect little boy; a diagnosis just allows you to better understand his development and assist him to reach his full potential. :hug:

I could have been writing your post a few years ago Dansta. We did all the tests (including the MRI) and they all came back annoyingly clear. My daughter also has low muscle tone (aka the ripped bean poll look), she is also A-typical autistic and used to fit... a lot. I'll walk you though our journey and you can see where it might help you, if at all.

The low muscle tone can effect a lot of areas other than just gross and fine motor, and has particularly affected her speech. My DD didn't crawl until 18 months, walk at 26 months, and talk more than two words until 28 months. The way I would describe it is that when she talks it is kind of plucking a loose guitar string, words and sounds that require more twang are a LOT harder to make, the muscles then have to be purposefully built up so to tighten the string. Games like trying to touch the tip of her nose with her tongue and putting a ball of gelatine (or peanut butter if they're no allergic) on the roof of her mouth and getting her to rub it off with their tongue helped. We will be getting a myomunchi next month which aligns the muscles to be in their best position, although it's most probably a therapy your DS would be a little young for yet. You can actually do a lot of things at home which are better then the occasional therapy session. Some fun games to help with motor skills are ripping long strips of paper down their length or pulling stickers off their backing and putting them on a piece of paper. Both help with fine motor skills. Also don't under estimate finger plays like the "Five little ducks went out one day" or thumbkin. Anything with steps, balls or trampolines are good for gross motor skills. The biggest thing we found helped was music as it requires less work from a different part of the brain and worked on the other side of her brain like jump starting a car. We did Kindermusik and it was amazingly beneficial. It's actually what got her walking and then running a week later.

We did integrated sound therapy and extra lesson through a psych when she was 5. While this mainly for her autism, it also helped balance and fine motor skills improve more dramatically then the health systems OTs and physios therapy as the vestibular system controls balance as well as hearing. Out of curiosity, was he posterior baby? Babies that are posterior generally have immature vestibular systems, and being possy is the first indication that it might be an area that needs work on.

We took her to see an osteopath. He put her on a pre GABA supplement. After four years of fitting and conventional medicine being clueless as to why, the fits stopped. We weren't sure it was the supplement until I forgot to give it to her one day. She got a mothball-like smell on her breath and then away she went. I've made sure never to forget to give it to her again. I later found research that the two main synapses that are involved in a febrile convulsion are the main ones that also produce GABA (Gamma-Aminobutyric acid) which is the amino acid that stops the brain from over-firing. A brain without GABA is like a car engine without oil, the gears (synapses) grind together and sparking (bad behaviour, sensory seeking/avoiding) until the engine catches on fire (fit).

We also give her on a no yeast, reduced gluten and cane sugar diet, as well as give probiotic and enzyme supplement every day to support her gut. Additionally, we bath her with epsom salts to help draw out any nasty chemicals/metals that linger in her system.

Over the years I've researched, I've come to believe that a lot of my daughter's issues have everything to do with absorption problems. This is why she needs the preGABA supplement as she can't create enough on her own, why she gets the smell on her breath, why she's a bean poll and also why she is autistic. I believe her CYP450 enzyme system has been damaged, partly from unneeded preservatives and additives in food, partly from cleaning chemicals I used to use in the home, partly from the toiletries I used to use that are full of sulfates and petroleum, partly from the medications I gave her like antibiotics, panadol and neurofen that sit in the liver for up to five years and inhibit the body from excreting toxic metals, and partly from the vaccinations that are, 1. Given before this enzyme system has even started to develop in a baby (it starts at two weeks and doesn't reach maximum until two years) and, 2. they're made on yeast that unbeknown to me she is intolerant to (whether she was intolerant to the yeast before or after the vaccinations I don't know). On top of this, I find out that yeast overgrowth inhibits white T cells from properly enveloping bacteria and virus's in the body and processing them, so those vaccinations were most probably for naught (even if they work to begin with which I'm not sold on) since she had had oral thrush indicating overgrowth at least three times by the time she was three months old and while I had treated the area of overflow from the overgrowth, I hadn't treated the root source - the gut. For years I had wondered why Vegemite would give her a red bum... its main ingredient yeast of course, duh!

Anyway, on to your little man... I noticed when you listed his breakfast that, 1. They are things that are very high in gluten and 2. That he eats a lot, meaning he either isn't getting enough out of what he is having or he is craving the peptide fix from the gluten. Either way, that's an absorption issue. Gluten feeds yeast, if baby boy has a yeast imbalance it will seriously effect how he absorbs food because the gut will create less digestive acids, the yeast will let off their own toxins, and it also rips little holes in the gut wall allowing heroin like peptides from the gluten into the bloodstream. It can be very easy to test. Remove all gluten, yeast and cane sugar from him for a couple of days (you can get gluten and yeast free bread from the supermarket so he can still have sandwiches and millet makes just as good porridge), if he seriously craves a piece of yeasty wheat bread and even melts down like a drug addict looking for their next fix if he doesn't get it, then you know you're on the right track. My daughter would try to get into the pantry and stuff her face with whole handfuls of raw sugar out of the container - insane.

yeddi thats really interesting. we've done all the allergy tests (lucky us as part of an allergy study done by the RCH!) so nothing there. as for the eating - i can honestly say he gets it from my DH. DH is 5'11" and weighed himself two days ago at 62or 63kg. he can eat twice the amount that i can! with the food also Dj has always been one to have 'more' be it BM (or rather EBM) formular or solids. he had really, really bad reflux until near enough to 18 months. and this is his first 'fit' he can crawl like a gun and is climbing his fav. thing todo would be rip up paper and munch on it. i have excluded yeast from his diet for a few days (with out meaning to) and there was no real change. but i will look into that pre GABA though, and the epsom salts. the way the pead explained the fit was an epileptic fit is like ripping a plug out and sparks flying. the fit DJ had was more like a haze on the TV.

As for birth he was a 'normal' position (not a back labour) he was a 41+11 (by the time he was born!) bub he also suffered from tung tie and pneumonia not long after birth (he was in SCN at 23 hrs old) he can cruse around the couches and crawl after the cats too and is very good with his 7mo baby brother. he makes noises like "diddle diddle diddle" and "gah" and he has also started cimbing onto peoples laps and up steps (but not down as yet)

but thank-you i'll re-read it when i can use both eyes lol.

The reflux and the antibiotics he would have been on for the pneumonia would actually make me more inclined to think it's a yeast issue. Removing the yeast alone wont make a huge difference as there would already be overgrowth there. You need to stop feeding that yeast as well as not adding more yeast, so that is why gluten and cane sugar have to be removed because they feed the already existing yeast.

I could be wrong but I doubt the RCH tests would have tested for an intolerance. There is a difference between an intolerance and an allergy. An allergy is an immune response, while an intolerance is a chemical reaction therefore they require different tests. Also, you don't have to be intolerant of yeast to have an overgrowth.

and we had another fit tonight. dh is with dj at the hospital. and we where going todo the mri today as well. we'll see what happens i guess...

Sorry to see this dansta. I hope DS is okay and back home with you asap.

he's been moved to a bigger hospital and is in and out of fits(well he was 2 hours ago) they'll be doing another EEG on him and eather a CT scan or an MRI later today. at least we'll know eather way i guess...

Hunny im so sorry, i dont know the whole story jsut read the last few comments. i am hoping everything is ok and DJ is home with you soon..
my thoughts are with you and little DJ
xx

:hug: thank you girls for the support.

Dj came home on the 11th - after being put on Keppra to stop any more fits and has been labeled epileptic. back in hospital in the wee hours of the 12th with croup. let me tell you i turned into a banchee at 7am thanks to some stupid doctors.

we went to the pead yesterday for the last lot of blood test results and to also upp the Keppra dosage.

all tests came back clear - bar one. the Genetic one.
It seems Dj is missing a chromosome. chromosome 15 on the cytogent band q11.2-q13.1 no idea what it means. but they also have no idea of its affects. could only 'see' this as of 2.5 years ago so they dont know in the long run how it'll affect DJ. DH and I have to have blood tests done in order to work out where its come from - or if its just a random muation. there are two syndromes that are assosiated with it - but until DH and I have bloods done we wont know which it is. so now we have more of an idea, we can help DJ as best we can. and by the looks of it Vic dosen't suffer from the same thing. but if eather of the boys have kids of their own they'll need to know bout it. (i'm guessing)

I'm sorry you have had such a rough couple of weeks, Dansta. I hope DJ is feeling better and you have the seizures under control.

Has he started at the kinder you spoke of earlier yet? The symptoms of both of the syndromes associated with chromosome 15 are managed with OT, physio and other therapies. I hope you have access to a really good kinder for DJ, there are some great ones around.

DJ sounds like a gorgeous kid and you seem like a beautiful, caring mum. I hope you get answer's soon so that you can all keep moving forward. :hug:

Dansta - my DD1 who is 2 years old also has GDD. We are currently going through the Blood tests & urine samples to see if there are any visible signs as to why she has GDD. She hates having the BT's having 3 people to hold her down isnt the nicest of things.

Hope things start to calm down in your household soon. Hope DJ gets better soon!!

This thread has been a interesting read. I been against having a MRI done on my DD as i figured it wouldnt change who she is but the last couple of days the way she has been acting i been thinking about getting it done more & more. ( will have to read whats done in a EEG, Cat Scan & MRI ) & talk to my Paed or GP about it.

I also hope you get some answers soon

nickel: yeah, thats what our pead said - but he also said they're still in the dark about the affects of both Angelman and Prader-Willi syndrome.

Crazyone: i was the same about the MRI, but when DJ wasn't walking/talking by 18 months i felt we needed to look deeper. we had bloods done - it also took 3 people to hold him down plus another to take the blood. X2 due to him moving his arm :wall: the MRI isn't too bad. the sedation part is - for DJ as he's really active they kind of need him to be asleep - something he's not good at LOL. the CT is 'worse' in the sence its like 500 chest X-rays. also the detail isn't as good. but it can rule out scar tissue ect (we had one due to the second fit) with the blood tests ask about the genetic one. it takes 6 weeks and thats the only reason we found out why Dj had GDD, which could also be cuppled with the epilepsy and the chromosome 15 deletion. maybe also (no idea where you are) talk to your pead about early intervention with phyiso, OT and speech (if you're not already) thats what we're starting now, hopefully that'll help DJ out.