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SN children

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Original poster

had a bit of a diagnosis breakthrough today

25 replies

SantaFio2 · 04/01/2005 20:07

thought I would share

dd has been refered to a neurologist but basically its NOT genetic. Dr wouldnt even test for SLOS, says its a 'no no' def. Thinks its def the biorth, even if the birth was only a secondary factor that caused the microcephaly.

Hope this makes sense, am too knackered to write more today trained and tubed it in london with two kids today and we are both very proud of ourselves!!

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hohohoheartinthecountry · 04/01/2005 20:15

Hiya - I am guessing that is good news? As I think that is what you suspected all along? Also, I guess it means you can say goodbye to all the endless genetic tests....

Congrats on trip to London! Did you hit the sales?

ks · 04/01/2005 20:15

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chonky · 04/01/2005 20:27

Fio - glad to hear that you're not going to have to go through more genetic testing, and the horrendously long wait for results. Well done on the London trip, we did one two days before Christmas with just dd and it knackered us!

Socci · 04/01/2005 20:28

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Blossomhill · 04/01/2005 20:42

I am glad you feel as though you have made a breakthrough Fio
I like you do not have any firm diagnosis and know how every bit of imformation about your child helps (if that makes sense)

Merlot · 04/01/2005 20:55

Nice to hear from you with your good news. Glad to hear that the testing is coming to an end for you (brilliant news)

Well done on the London trip, we were going to do the same to day, but I bottled it at the last minute!

tamum · 04/01/2005 21:11

Oh fio what great news! That's so freaky, I was actually thinking about whether you'd been to Guy's yet just today. I am glad it's not SLOS, and it's good that they've confirmed what you always thought really, about the birth. Maybe they can kickstart the search for your notes again now?
xxxx

Original poster

SantaFio2 · 05/01/2005 06:32

thanks everyone, dont think it's end of the testing though!

tamum, arrgh about the notes. Dr was very concerned as they wont even forward dd's notes on now! They aked to look at her original CT scan and they have refused! Dont really know what to do about this but I am going to see if i can catch countessdracula on here later to see what she says basically they think that there was subtle damage to her brain on the CT scan and the paed who looked at the results wasnt trained to even check for minor or subtle changes. Also she thinks in dd's case an MRI would have been a more appropriate way of testing, so guess what? she has to have an mri now and a repeat of all the testing she had originally because the hospital are being so awkward about her notes, ggrr. Plus they will test for SLOS aswell but only because it has been implanted in our brains and we will keep questioning it. Will mean a GA though, which i am so worried about. But she also said the neurologist checks for subtle brain abnormalities and that may be the cause aswell, dont know what that really means. She said try to stop worrying about things now as dd is making progress and that is always a good sign.

ho hum. At least she the words came out of her mouth though, prolonged rupture of the membranes, infection during delivery, inhaling meconium and being starved of oxygen during birth and delivery are induvidually a cause of microcephaly - let alone collectively, even if that was only a secondary factor to dd's subsequent problems. Hope this is making sense!

Anyway this should be in about 6 weeks time. At least we know how to get to the hospital now and dd loved going on the train and tube, I think she is mad! The Dr lives a few villages away from us and was saying how silly we were as we could of got the train straight to the hospital and not tubed it never one for the easy option me!

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Original poster

SantaFio2 · 05/01/2005 06:38

Oh and no shopping, bloody wouldnt dare with a miserable dh with me

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lou33 · 05/01/2005 08:37

fio

Original poster

SantaFio2 · 05/01/2005 08:43

oh lou, welcome back honey. i so want to hug you xxxxx

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lou33 · 05/01/2005 09:03

come on then!

Blossomhill · 05/01/2005 09:30

Hug from me too lou (((xxx)))

Marina · 05/01/2005 09:33

Fio, so pleased you are making some headway on dd's diagnosis at long last.

maddiemo · 05/01/2005 09:35

Glad you have found info that is of use to you and dd.

Nice that dd enjoyed the journey.

As for dh, there is always one that plays you up

coppertop · 05/01/2005 09:36

I'm glad you're finally starting to get some answers.

I thought hospitals had to let you see the notes if you request them, with very few exceptions. Bl**dy hospital!

sparklymieow · 05/01/2005 09:40

You can have a MRi under sedation rather than GA. Ds has had 2 done at GOS and DD1 had 2 done at our local hospital and Dd2 had one done at 1 week old with no sedation!!! Sedation is better IMO

Original poster

SantaFio2 · 05/01/2005 09:43

they are saying the MRI will take at least half and hour but i will ask for sedation as this was effective enough for her CT scan originally

coppertop, I have no idea what they are playing at with all the notes as it is Dr's who are requesting them, not me. Shouldnt they just send dd's notes on automatically to her new specialists?

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JakB · 05/01/2005 10:05

I'm glad you are getting to the bottom of things, Santafio. I don't know what goes on with notes, either. Sounds like a cock-up somewhere and they are trying to cover themselves. Well done for doing the trip up to London. Hope the MRI goes OK. DD had one under a GA. I didn't think about sedation- sounds much better.

hohohoheartinthecountry · 05/01/2005 11:30

Fio2 - dd had a GA for her last MRI. I was really scared but of course she was fine. I think the reason they would suggest GA rather than sedation is that if your dd moved at all, which I guess she might if just sedated, then they may not be able to get a really full picture.

Will dd have to be admitted the night before (W was)? If so, let me know and I could come and visit you at Guys if you would like. I know how horrid it is just sitting in a hospital trying to keep your child occupied. I'll email you.

Original poster

SantaFio2 · 05/01/2005 11:37

thanks HITC, they did say just morning. i have started to feel really depressed about it all again. Like we have took another backward step. i am reading all the 'brain abnormality' stuff I read 3 years ago and cant beleive they have lied to me for so long. It was the dr saying she seems to present so much as having a subtle brain abnormality and that is what we have always thought. i am going to ramble all day

dont know whats wrong with me

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Original poster

SantaFio2 · 05/01/2005 11:38

and she just stood in front of me telling me the names of her class friends and I could only catch a few and she is squeeling at me

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fairyfly · 05/01/2005 11:39

Take it easy on yourself babe, there is nothing wrong with you, none of it is nice and you do so well

Potty1 · 05/01/2005 15:19

Fio ...does that just about cover it? And bloody about the notes. Have posted about that on your other thread.

Merlot · 05/01/2005 20:50

Sorry the testing is continuing SantaFio . Ds2 has his MRI in 2 weeks time under GA at St.Georges Tooting. No-0ne offered us Sedation either, which is why we are going to Tooting, local hospital wont do GA.

We have to be at the hospital by 8.30, but I cant give ds2 anything to drink or eat after 6am in the morning - feel that this is going to be nightmarish.

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