Just booked a GP appointment as think dd had a fit last night. Am I being silly?

[used2bthin]

I've had threads on here about it but dd is being investigated atm due to a few funny turns then an eeg indicated epilepsy so we are waiting for a neurology appointment in two weeks then an MRI in october as she also has microcephaly and SLI. She also has a genetic condition and has a lovely consultant who cares for her with that so I spoke to her about some more funny turns recently and she said let her know if there are more or things get worse. So I've called but she's not there-her coleague who is less helpful usually is calling me back but I have also made a GP appointment as she has some spots but also I know it is pointless probably as she is being investigated anyway but I just want her looked at I feel so worried adn am a bit upset with myself that I didn't do more last night.

So basically DD had a bad afternoon yday. We wanted to go for a walk, she just wouldn't leave the house then whined a lot and seemed generally out of sorts. We finally diod get the walk and she had fun initially but it was longer than we realised and she got back exhausted and took ages to settle. She fell out of bed twice which seems to be a pattern and then at midnight ish i woke because she was in the doorway of my bedroom, she said mummy then I heard a thud and she was lying in the hallway, her eyse were a bit open(she often sleeps with her eyes open a little as does her dad) and her left arm was twiching. i couldn't get a response from her for a few minutes then she seemed to come to a bit but didn't get up and was too heavy to lift. i then managed to get her to stand up and I took her to the tolet but she had just wet her nappy-she had been dry for four nights so I was planning on not putting a nappy on last night as she is fairly reliable normally. She had wanted to wear one though.

should i have got her seen last night? is it pointless anyway? i know i should have filmed her but was too panicked even though the camera is now kept upstairs at night for that reason.

[1980Sport]

How awful for you! I don't think you're being silly at all - go to the GPs apt explain how worried you are, that the MRI seems a lifetime away, neurology is still another 2 weeks away and in the meantime you're left feeling helpless with this situation!

If you get no joy from the GP and she has another episode before the neurology apt I would phone for an ambulance! Hopefully someone who has been in a similar situation will be able to advise better!

But let us know how you get on!

[TheNinjaGooseIsOnAMission]

how frightening usedto, perfectly reasonable to go to gp, I certainly would. I can't remember if I've said before but dd3 is high risk for seizures, she's always a lot more twitchy when particularly tired or ill so it could be something similar rather than getting more severe iyswim. Are you keeping a diary of what's happening and when?

[used2bthin]

Thanks both of you. 1980 I thought of you this morning and the other thread when my mum texted and I played down the situation!

yes am keeping a log of it all. GP was lovely and said it was a seizure. She rang neurology who said fine to wait till the appointment and didn't want to start meds till after that. We have to go to hospital now for bloods though as dds other condition also puts her at risk of seizures if her levels are out so they have to check.

Got home to a letter saying the genetic results are in and dd is missing part of chromosome 4. What a day.

[TheNinjaGooseIsOnAMission]

big day indeed! Was there any info with the genetics letter?

[bigbluebus]

used2bthin Did genetics letter give any more info - my DD has part of chromosone 4 missing (4p-) and has a 'syndrome' with a name. Might be a different 'arm' of ch4 so could poss be a different condition - but just wondered?

[used2bthin]

Hi zzzz that is good advice. I have now spoken with both the neurology reg and dd's endocrine consultant who was lovely and said try not to worry-if the seizure was caused by her levels being out then she would seem ill so it is more likely the epilepsy that is looking very likely now.

Re the childrens hospital we have open access due to dd's first condition so can ring then go straight to a ward. Sort of wish I had done that last night but then of course dd would have been even more tired, hard decision.

ninja and bigblue bus the letter just says that DD has a small peice of chromosome four missing and the next step is to do tests on me and xp to check whether it is significant or not. So still not much info! Not sure how much to research as its very possible they will discount it iif me and xp also shre the missing bit. But of course I probably won't be able to help myself!

[used2bthin]

bigbluebus does your dd's condition only involve chromo four or other bits too? Some are missing and replaced from a bit with 8 I think? (from unique's website from my latest bout of internet obsessing over dd)! If you don't mind me asking is speech and lang issues part of your dd's condition?

[used2bthin]

BTW DD seems tired and grumpy today. Am not sure if this is because of the seizure or whether she fitted due to being a bit tired and run down. I'm so tempted to just cancel the rest of the week I feel like not seeing people and going out tbh and also no idea how I will function at work this week but I suppose I will have to.

[bigbluebus]

Used2bthin - my DD's condition just involves a deletion of part of the short arm of chromosone 4. DD is quite severley affected with profound & multiple disabilities but we have met a number of other children with the same syndrome who are less severly affected. Many have speech and language difficulties but some do not, although all have a learning disability of some degree. DD also has microcephaly.
DH & I were both tested after DD's birth and neither of us have the defective chromosone - it was a 'sporadic event'. It is possible in rare cases to carry this defect however or for there to be a 'balanced translocation' - where a bit falls off one chromosone and attaches itself to another.
Genetics is a very complicated subject. We went to an exhibition in Manchester at the Science museum last weekend which was about DNA and genetics. Facinating. There are of course other conditions which are as a result of chromosone 4 and if you get bits moving off one and attaching to another then that can create even more variants.
Good luck with the investigations re the seizures/funny turns by the way. DD started with epilepsy aged 2 - it is very frightening at the beginning - but if it is epilepsy, hopefully they will be able to sort it out with medication quite quickly. You will get used to dealing with them though!
I second the 'postictal' phase suggested by ZZZZZ. This term has been used about DD in hospital many times about DD following a seizure.

[used2bthin]

It happened around midnight last night and she was very very floppy and sleepy immediately after but clingy in the night and called me in a couple of times. She has some spots which the dr said didn't look like chicken pox but could have a virus too. She is certainly eating well though and right now is singing (well her version of it)and jumping in and out of the paddling pool she has been quite hyperactive today which is how she seems to do out of sorts!

That is interesting about the condition does it have a name or is it quite rare? We are going to the day ward tomorrow for the blood tests but the doctor I spoke to said it is expected it is normal as it sounds more likely the epilepsy than the genetic condition that caused the seizure.

I find it a bit alarming that the diagnosis is going to be made not just based on the eeg but on my diary of her funny turns and my side iof the story and keep thinking but what if I am imagining it! Denial maybe?!

[bigbluebus]

If your DD has microcephaly, I would say that it is probably not surprising to find she has epilepsy, as the 2 often go together. My DD has a syndrome called 'Wolf Hirschhorn Syndrome' and most people with this condition suffer from seizures at some time in their lives.The syndrome is not as rare as we 1st thought (as diagnostic techniques have improved) and does have a UK based support group - which is why we've met other children with the same syndrome.
If your DD does have a virus, then that would make her more likely to have a seizure especially if she does have epilepsy. DD often has seizures when she is ill but also at other times too.

[used2bthin]

thanks i have just had a look at the website(isn't it great having the internet-dd's genetic condition has a support group mostly web based and it was a real lifesaver)

If dd has the condition she has very few symptoms but it does say that not every child presents the same. She has microcephaly but other than that and a low hairline I think there were no obvious physical markers that the geneticists could see. But of course she could have it mildly or it could just not have fully presented yet- or another chromosome problem of course.

Worried at how long this is all going to drag out, I can't take the worry all over again. But of course I will! And of course the chromosome thing may be a red herring. Bed time tonight was completely fine and I don't feel as on edge as last night although of course I will be checking her-last night it was just so obvious she was going to behave strangely in the night.

[bigbluebus]

The stress of waiting for a diagnosis must be dreadful - DD was diagnosed at 3 days old as her problems were obvious at birth. Have met a number of parents whose children have been diagnosed quite late on in life but they say that by then the diagnosis is just a label - and their DC is just the same DC that they have know for years. Having a DX doesn't really make any difference - its just a name and doesn't change their child.
Hope you are able to relax and have a good night's sleep tonight. Having slept next to a 'baby' monitor for over 16 yrs listening out for strange 'seizure' type noises from DD, I know how difficult it is to relax but hopefully all will be ok if your DD seemed fine at bedtime.
Try not to get stressed out by waiting for more tests and a DX - easier said than done I know! But your DD will still be the same DD that you love no matter what.

[growlybear]

Hi used2bthin,sorry you are still having problems with seizures.My dd has strange postictal behaviour in which she screams for up to 2 hours and is so agitated.We can see these ones coming for a couple of days before they happen.DD is still having a wide range of seizures its hard keeping up with them some times.
Sorry its all taking so long to sort out its so frustrating isn't it.Keep your chin up x

[1980Sport]

Just catching up - goodness you're really having a time of it aren't you! I can't offer any practical advice re the seizures :( just hoping for you and DD that the next few weeks remain uneventful until the neuro apt! And genetic results today as well, are you managing to get your head around it all? Do you know when they'll test you and xP?

[used2bthin]

Thanks all, bigbluebus I hope not but she has just fallen out of bed so now not sure! DD was diagnosed with her other condition at a few days old and the strain was massive to begin with, the fear of something happening in the night meant I slept in her room till she was 16months! But then had a camera moniter which I suppose I could actually set up again, it is easier than getting up a million times a night.

growly bear does postictal mean before or after seizure? I haven't heard the term before and thought it must mean after but if its before then I definately think dd gets that because I can now tell from her behaviour if its going to be a bad night.
1980 we have to make appointments for the bood tests and XP is quite possibly going to take a while to get round to it but I hope soon ish for results although as it isn't urgent it could be a while. I rang the geneticist and left a message today asking to have a chat as I am feeling quite anxious about it all,hopefully she will call back tomorrow although I'm not sure exactly what I'll ask her.

[1980Sport]

Just a quickie - if the geneticist doesn't get back to you, dont forget Unique has a family helpline, they might be able to help in the meantime!

[bigbluebus]

used2bthin
Hope you had a decent night and that the 'falling out of bed' episode didn't amount to anything else.

[used2bthin]

Thank you all and yes we had afairly uneventful ight thanks although dd wet through her pull up at five. I am now writing evey night about whether she fell out of bed and whether her nappy was dry to see if my theory about the two going together is true.

zzzz that is amazing that your dd is doing so well! And don't worry you aren't scaring me, dds SLI has been described as severe and profound and is affecting all areas of her learning BUT she is progressing. So any info is good to me as I would hate to lose any of that progress. BTW she is starting school in september too! She can't dress herself its something I have been working on and she definately is more clumsy some days than others-some days her coordination is excellant and others she just falls over nothing and also she hasn't got a hand prefernce yet it changes. The doctor said yesterday that we could now see this as epilepsy so that is what she meant I suppose, in that dd had had a fit and with the history of having had other seizure like experiences.

1980sport I am going to ring unique before hospital today I think. The geneticist is pretty good about calling back but may be more wary about telling me the possibilitis than unique and I just want all the information atm.

[1980Sport]

I'm trying to imagine how I'd feel if or when a similar letter arrives for us! And I feel sick to my stomach for you, and completely understand the need for as much info as poss - hopefully unique will be able to help!

Glad last night was a quiet one!

[growlybear]

Hi used2bthin yes postictal means after the seizure.As i said we also can sense a seizure brewing through change of behaviour although nothing we can actually do about it.

[used2bthin]

Hi all and thanks again, keep checking here its really good having people who understand. DP has said re the chromosome and all of this well we don't know yet what we're looking at so no point worrying till we do . Ok then because its that easy!!

growleybear oh yes I get it now, I think I have lots to learn about this.

I ran unique but didn't have enough info for them they said they'd need to know which bit of chromo four is missing so advised me to call the geneticist which I have repeatedly but so far no reply.

1980 yes it was a bit of a shock with everything else going on, yesterday felt a bit surreal but the waiting bit is worse in some ways. When will you hear more?

Good news is that the hospital got blood first time and dd passed a hearing test after (recent grommets op).