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
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.
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.
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 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.
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thank you girls for the support.
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.
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