Developmental delay--what it means for us (long)

[Arabica]

I haven't posted for a very long time, but to cut a very long story short, my nearly 10-month-old DD was diagnosed with ventriculomegaly (too much fluid in her brain) when I was 28wks pregnant.

We don't yet know what caused this, or what her prognosis is, but having spent her first 4 weeks in the SCBU being tube-fed, she is now a healthy, happy little girl who now eats well but has hypotonia (ie, she's a bit floppier than you'd expect) and just happens to be a little behind her peers, in most areas.

We have 11 health professionals involved with her care which means I've been plunged into special needs land with many appts, tests, etc, and which also means I never get much time on the computer. But I wanted to say hello and make contact again with the special needs crew. Especially if anyone else out there has a baby or child with neurological symptoms and a similar lack of diagnosis. They suspect it may be a small deletion along a chromosone somewhere, but no diagnosis seems to come to mind with the geneticist/neurologist as yet. Hence MRI scans and some interesting new chromosone test.

Anyway have rabbited on long enough! Looking forward to meeting old friends and making new ones, love Arabica and Esja xxx

How LOVELY to hear from you! I think of you and Esja all the time and longed to hear how you were getting on. Glad to hear that she is happy and healthy - that's great news. I know you had so much anxiety in your pregnancy. I am sure lots of people will be along soon. Welcome back!

oh Arabica .. hello and congratulations and I've missed seeing you around

Hi Aloha, lovely to hear from you. I never forgot my mumsnet mates but it was so hard to get on the computer, I just never seemed to have a moment and I think I was too f*ed up emotionally to want to reflect on what was going on. For a long time, any expression of empathy tended to send me into gibbering wreck mode.

Hi to Twig too, how are you? I'm not sure when I will get back online, have to go and do baby stuff now, but will be back later on to meet everyone xxx

I can understand that Arabica. It has been such am awful time for you, with those terrifying scans etc. How is Esja getting on generally? HOw is your ds?

Oh darling, so lovely to 'see' you. I hear Esja is absolutely beautiful, too.

It's good to see you back, Arabica. Good news about little Esja too.

Arabica! This is amazing, I was thinking of you today, wondering how you're getting on.

Great to hear that things are okay.

We have had lots of things going on as well with Seb, and are still lacking a diagnosis too.

It would be great to hear more from you, have to go now, but will be back later!

Lots of love!

Hello!
Just dropping in (supposed to be working) for a few minutes. Hi to all. So you haven't a diagnosis either, Emkana? What have you been told about the cause of Seb's symptoms then? I must read your posts and catch up but haven't got time for now.
Scans are scary and they aren't over yet. Esja's having another MRI soon to see if there is anything unusual or significant in the brain. We're being well cared for at our various hospitals. Homerton (our local) is nice but the coffee's appalling; Hammersmith is the cleanest; Royal London is the spookiest, and Gt Ormond St was the most depressing.
Still hoping to meet someone else dealing with lack of dx/developmental delay/hypotonia

Well with Seb we're still basically where we were during the pregnancy: They think he has a skeletal dysplasia, but are not sure which.
The most common one has been ruled out, as well as the scariest (thank God!). But where to next, we don't know.

Sebastian is also behind in his physical development, but according to what I've read this is common in children with skeletal dysplasias.

Glad to hear that you are well cared for!

I think Fio might be able to help Arabica - put out a shout for her?

Hello, just thought I would pop in on this post. Ds is 2 and a half now. My labour was induced as he wasnt growing properly, and he was born at 36 weeks. Since he was born he has severe development delay, poor vision (basically un diagnosed). He has recently had a second mri scan which has showed changes in his brain. There are a few possibilites and they want to do lots more tests. So far no one knows what has caused his problems, initially they suspected a uti at 28 weeks but one consultant would say one thing and others say the opposite!
The recent scan shows possible hydrocephalus and possible vanishing white matter disease.
The scan showed that most of his brain is abnormal and the white matter is being replaced by fluid. Its all a lot to take in at the moment but once they carry out more tests we may know more?? Of course they say they may never find out what is wrong or how it happened. He also has possible microcephaly. Its all been busy lately after a longer period where they didnt do much at all. I am glad we may finally be getting closer to a diagnosis and the chances of having another child like him.

I know that a diagnosis doesnt really change our daily lives but it would be nice to find out what the future holds and to perhaps seek out others with the same problems.

Thanks for your replies. I am sorry to hear about your DS, jbadgirl, and I really appreciate your post. You've totally understood why we want to get a diagnosis.

I hadn't known about Rett's syndrome, FioFio, and am wondering if she has already been tested/it's too early to test. Isn't Rett's the one where they develop normally but then regress? If so Esja wouldn't fit the bill as she has had her symptoms (hypotonia, feeding difficulties) since birth. We are well looked after, with OT, physio AND just started portage. We even have a special big blue family file folder for all our hospital notes, with its own plastic bag. Not sure I'll use it though. I started my own system way back and I like the file I made myself.

Hi Arabica

I've got a dd with severe developmental delay, but no diagnosis. She has CP, a visual impairment and learning difficulties.

We found out when she was about 8 weeks old - although I felt that something was not quite right from day 0. We've done the full gamut of tests: MRIs, chromosomal bloods, EEGs etc. with no conclusive results. We've also seen two geneticists (Fio - we're off to see the geneticist at Brum Womens Hospital, wonder if it's the same one?), and were under a fantastic pead neurologist, but they could offer no further insight.

DH and I have agreed that we don't want her to have any more invasive testing (she needs a GA to have her MRI, as sedation has no effect on her). I think over time I've come to accept that science just hasn't advanced enough to give us the answers that we would like. With dd they also expect that she has a tiny chromosomal deletion, but there isn't a test to prove it.

It sounds as though Esja is doing really well

jbadgirl - sorry to hear you've been having a stressful time of it recently, I hope you get some answers soon.

Glad to hear Esja is doing well

My dd is and has developmental delay (chromosome abnormality - tiny deletion on 5p, partial duplication of 14q) It was diagnosed early but only because she had the distinctive cri du chat cry (that's the missing bit of 5) - I think if it weren't for that we could be in a similar situation re diagnosis (bit needle /haystack as far as I understand)

Oooh Fio and Chonky - we go to Geneticists at BWH as well

hello Arabica - was just thinking abuot you and Esja this morning (in the shower for some reason!) so am really pleased to read your update, glad to hear she is happy & healthy. (are you going to put pictures of her on your profile?!)

I'm sorry you've not got a diagnosis - I can only imagine the extra stress that causes

Good to see you back here, anyway.

Sheesh, that stinks Fio. One day I'm sure that we will get answers though, it's just a case of being patient.

The initials of the lady we're seeing are LB.

Nice to hear from you again, but in your, maybe, long road to diagnosis (if you ever get there, some parents do not) do not lose sight of your beautiful baby girl who will bring you so much joy (and sadness) in her fight (and your fight) to be the best that she can.

I have travelled that long route of knowing that something was not quite "right" but no diagnosis until my youngest dd (now 5) was finally diagnosed.

The diagnosis (Sotos syndrome - a genetic condition that causes global delayed development and overgrowth) finally arrived after many months/years (she was nearly 3 when we received the diagnosis) and, at first, I was quite upset at what her life might be.

My lovely portage worker at the time told me not to lose sight of Sasha and a diagnosis might help her get the help and support she needed (although lots of help was forthcoming - pt, ot, portage, et al) but at the end of the day she is and will be the person that she is.

As long as she can be the best that she can, she might not be a rocket scientist, but if she grows up to be an independent adult, earning a living (even if it be stacking shelves in a supermarket) I will be so proud. If she doesn't get to that, then so be it.

As long as she grows up being loving, sociable, outgoing, confident (all of which she is right now) and she knows that she is loved for who and what she is (whatever that might be), that will be just fine.

I hope you get the diagnosis (whatever that might be) to put your mind at rest but take heart that you are doing the best for you DD and she will be who and what she will be.

Love to you and Esja

I could talk about Sasha's achievements (out of nappies day and night, goes to mainstream school - with special needs helper, does ballet, swims 10 metres unaided, and so on) because some children with the same condition do not walk, do not talk, wear nappies at 17, etc. etc. but at the end of the day, diagnosis or not, each child is still unique and, for me, as long as Sasha can be the best she can (whatever that might be) it will be fantastic (Sasha's favourite word at the moment).

oh bumblelion, your post made me cry (in a nice way IYSWIM). What a lovely post

Hello Arabica.
Lovely to hear from you again.
I often think of you and little Esja.

Not much to say at this stage but as one of the professionals you will probably come into contact with (am a salt working largley with children with special needs) am always around if yuo need a bit of advice.

All the very best to you.