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*quite rare* its not celebral palsey but same symptoms, please read if you think you could give me advice

(25 Posts)
misslala1987 Fri 09-Mar-12 14:07:12

after 7 months of physio therapy, a blood test, urine test and m.r.i scan. we now know our daughter has dekay in maturation of her brain. she is 19 months old, cannot yet crawl walk or stand alone. she has a standing frame and we practise standing against objects, the physio theraapist says she is happy and says my daughter is slowly progressing though she says she is still abit curious about some of my daughters ways. i.e when she sits, she sits in more of a slouched position with her pelvis tilted forward and her legs out straight and quite stiff. she says my daughter shows signs of a child with celebral palsey but she doesnt have it! ive never met a parent whose child has had the same diagnosis and delays. just want to know if there is anyone who has similar experience? and what you might have been through

survivingwinter Fri 09-Mar-12 14:35:25

Hi - I'm curious as to why they have ruled out CP? From what I understand it doesn't always show on an MRI as damage. Hopefully though, your dd is just experiencing a delay and will continue to make progress until she is mobile.

I don't know anything much about your specific diagnosis I'm afraid but have a dd with a brain injury - she has low muscle tone particularly in her trunk and used to sit slouched but with her legs out straight (for balance physio said). She does also have slight CP in her limbs - she tightens when stressed/excited etc. However, she's mobile and can walk, run etc (albeit with a little more difficulty than her peers).

Glad you are getting physio - have you been offered OT or any other services?

thereonthestair Fri 09-Mar-12 15:58:49

I am also curious about ruling cp out, my DS has a diagnosis of CP based on observation and risk factors (mainly prematurity) we decided not to have the MRI as the paeds said it would provide no additional information, as brain damage on an MRI is not conclusive either way especially when they are little. Mys Ds is 2 (21 months corrected btw).

However coming back to what else is it, I know children who have diagnoses of gross motor delay (not CP) especially if they are prem, as there are a lot of similarities but generally if its just premminess they "grow out of it".

Also it could be a muscle tone issue, hypotonia, hypertonia? or potentially hypermobility which can have a seeming impact on muscle tone if there is also gross motor delay.

Were there other risk factors at the birth (prem, low birth weight, oxygen starvation, infection?)

For what its worhtmy Ds has low tone in his trunk (but strengthening mainly I am told from being prem) and high tone in his legs but he doesn't stretch them out if he can help it, he prefers to kneel. Hypermobile joints as well to put into the mix.

Overall however I don't think the label matters that much, are you getting the OT, portage? have you got dla?

OliviaMumsnet (MNHQ) Fri 09-Mar-12 22:56:47

Hi there OP
you have posted this twice - we deleted the other one which, rest assured, only had one reply on it, bumping for you. That poster alerted there was a duplicate.
Hope you can get some help and my post will bump you too.
Thanks
M Towers

madwomanintheattic Sat 10-Mar-12 00:27:18

Dd2 had exactly the same delays (that seating is absolutely typical for cp). Can you give us a bit more info about what the MRI showed? (I'm not sure that I understand the brain maturation thing - is she saying that the brain did not fully develop? Or that the motor development is delayed?) I'm a bit suspicious that the physio is 'curious about her ways'. She doesn't sound like a great physio, and the difficulties sound pretty bog standard. Well within the scope of any paediatric physio...

Above posters are quite right, though. Brain damage as such does not have to be present for a cp dx, sometimes they are made by clinical observations alone.

I would also ask for a neuro appointment to specifically explain the MRI findings - we found this very beneficial.

I should also note that even though dd2 sustained a birth injury, she was not diagnosed with cp until she nearly two - they just called it developmental delay from birth, which really was just a cop out to prevent me suing them. (it disn't work)

Have you got a copy of your MRI results? There are a few very knowledgeable posters who can help you decipher them?

As others have said, there's lot of things that might help. Have they suggested Pierre boots with neuro insoles? Any suggestion of orthotics? Are you getting decent portage etc? How is her fine motor? Oromotor?

Dd2 had very similar early history and we were told she would be unlikely to walk or talk. She does both. Goes to mainstream school, brownies, ballet, swimming, Is learning to ski etc etc. she still has cerebral palsy, but it's a very small part of her. That's not to say she hasn't worked bloody hard to get where she is, but the early years are definitely the worst. (so far. I anticipate teens might also be hard going). grin

If you can get a better description or explanation of what the docs mean, then maybe we can offer some better advice? Difficult to say without knowing exactly what was found on the MRI.

misslala1987 Mon 12-Mar-12 16:58:20

hi thanx so much for your replies. yes she was prem by 5 weeks exactly and was in neo natal for 11 days due to breathing difficulties and was fed through tube and had oxygen. the pedeatrician says that her being prem has nothing to do with it. and they dont know why she isnt developing as expected because her blood urine and genes tests all came back healthy. they said 'delay in maturation of the brain' basically means an immature brain. the therapist has suggested she moves more like an 8/9 month old. when i have brough up cp or dyspraxia she says she doesnt have those. even though she at first seemed like a child with cp, her muscle movement (or muscle tone?) is the opposite of a child with cp. they said the m.r.i also showed that she had minor flat head syndrome and 'lack of white matter bulk' on her brain. her health visitor came today and has suggested looking for play groups with special needs children, but is my daughter really special needs? i dont know any other mother whose been through this. ive met ones whose children have either got cp or have had low muscle tone and i cant actually relate because my daughters still seen as a curious case. but all im told is to keep practising standing with her and see her progress. my daughter is also tall for her age and of course i dont mind carrying her everywhere or taking the buggy everywhere, but shes not fitting in her bath seat anymore, shes obviously going to out grow her buggy. ahh i guess i just want to know, whats next?

misslala1987 Mon 12-Mar-12 16:59:25

madwomanintheattic no they havent suggested Pierre boots with neuro insoles? Any suggestion of orthotics? Are you getting decent portage etc? How is her fine motor? Oromotor?
i have no idea what those are :s

madwomanintheattic Mon 12-Mar-12 17:59:35

your dd has a congenital brain defect causing physical disability, so yes, she has sn. the fact that the health professionals are suggesting she may benefit from a (vanishingly rare) specialist setting for nursery suggests that they believe this may well be a life long disability.

brain conditions are interesting, because professionals genuinely have no idea how development will be affected, so 'wait and see' is a valid clinical approach, providing that they are meeting needs in the interim (ie with physio)

contact bibic here and cerebra here as they are both respected and well known organisations who might be able to give you better info about your particular dx.

apply for dla if you are not already in receipt.

contact your area inco at the lea and discuss access to nursery settings and the application process for sn children. many sn children manage brilliantly in mainstream with additional support.

fine motor - essentially use of hands/ small movement. an occupational therapist may be needed later
oromotor - mouth/ feeding/ speech - ditto for speech and language therapist (never too early. dd2 had slt from birth)

i'm not sure how much of this is a shock to you - i'm hoping none, but i suspect your paed is doing you no favours by being nicey nicey, so i apologise for being blunt if you haven't heard this stuff before. sometimes professionals like to use 'medical mystery' bollocks to save themselves from committing to a definite dx and causation. dd2 was a medical mystery for two years.

madwomanintheattic Mon 12-Mar-12 18:52:49

(mn ate my first post... i also wanted to add that you have been given some very odd advice about cp. there is no 'opposite' effect. cp can be dx as a result of low tone (hypotonia) as well as high tone (hypertonia or spasticity), and indeed fluctuating tone (athetoid cp). so i'm at a bit of a loss as to what is the 'opposite' of high, low, or fluctuating muscle tone? it seems to cover all possibilities except normal muscle tone, which presumably your dd doesn't )have. i'm not surprised you've been told this by med prof, tbh, our own paed sent me a lovely explaining the three types of cp but got it all completley wrong. sometimes it's scary.)

my reply is also based on the assumption that your dd doesn't have periventricular leukomalacia (also referred to as pvl) which commonly affects the white matter of prem infants, but has an underlying condition which has caused the white matter to not develop in the first place. apols if i have got this wrong. (pvl can lead to a cp dx at a later point)

have they referred you to genetics? (not sure whether this aspect of brain development can be due to a genetic cause?)

it's also worth asking for a specialist neuro appointment who will go through the mri results in detail.

madwomanintheattic Mon 12-Mar-12 18:57:13

portage is a home visiting play and development service for young children with disabilities or delays. they are ace.

piedro boots are just a different type of stability shoe often used in conjunction with standing frames or walkers.

orthotics - again, some form of medical bracing/ splints prescribed by an orthotist. commonly ankle/ foot or other leg braces to help stability.

misslala1987 Tue 13-Mar-12 13:15:16

ok yea my daughter does have a therapist come to our home too i just call it 'play therapy' because she uses toys and books. she does also have a standing frame and wooden stool to practise kneeling and she did have a corner chair but can now sit without it (which is progress) orthotics? no never been told about that. she sees the 'play' therapist every week so far but that will stop after 6 weeks and theyll do an asssesment to see wether is needed any longer. she sees her physical therapist every 1-2 months and the last time we were there she got to see an occupational therapist but that was the firt time. when i say the therapist says my daughter has the opposite of a child with cp, she says that my daughter is more on the floppier side where as children with cp are more toned? sorry cant remember exact words but thats basically what she said. every time i see them im always asking questions probably boring them with the same over and over again. but i just basically get that 1. shes quite a unique case 2. she is progressing so they seem opptomistic 3. they will be monitoring her. how please do i get a specialist neuro appointment? her m.r.i scan was sent to great olmond st hospital for a second judgment and theyre the ones who writ the report. so that should be fine right? also i definantly should claim dl? i always thought it was for adult and children with severe disability. ive never labelled my daughter as a child with special needs i guess because ive been told she is prgressing. btw some of what you writ was abit of a shock because it sounds opposite to what ive been told, but i am very grateful for your honesty. ive never met another mother who has been through the exact same. even yesturday when i called the childrens centre my health visitor told me to, i explained to them my daughters diagnosis and they seemed abit baffled. im like 'is there no one else thats heard of this without it being something specific like cp'?

hazeyjane Tue 13-Mar-12 13:29:04

I am baffled by their bafflement tbh!

There are quite a few of us on this thread, whose children have a range of issues (global developmental delay, hypotonia etc), and who are undergoing testing, but who have no diagnosis. In our case we have always been told that it might be that there is no diagnosis, but that each of ds's issues will be adressed as they arise.

Is your dd delayed in other areas? does she have any problems feeding?

Agincourt Tue 13-Mar-12 13:54:23

I don't think they are baffled but I think when your child is young they like to look for answers as to what may have caused the delays.

You do need some kind of benefit type advice so you can claim dla for her and if you have had to give up work to care for her yourself then depending on what award you get you can claim carers allowance too.

I hope you are okay. We have had the old your child presents as having cp but hasn't got cp thing too, i think it's because they can't explain it any other way.

madwomanintheattic Tue 13-Mar-12 14:34:26

They aren't explaining it at all I don't think, agincourt, which is why a neuro referral/MRI debrief might help. On the one hand they are saying it is v similar to cp, but not cp, and on the other they are apparently saying it's the opposite of cp (which isn't the case at all from the description. From clinical presentation it would look just like cp...)

We just booked an MRI debrief with the neuro through the paed. It was singularly the most helpful thing to cut through the whole 'medical mystery' hogwash that we had been fed. She looked at the MRI, looked at dd2, and pretty much explained everything in 5 minutes. Paeds often don't have the knowledge to interpret MRI results in lay language, and can't extrapolate what this means for the future (or may mean for the future). Or ours couldn't anyway.

Children with special needs progress all the time. They progress because of all the physio and intensive therapy, and early intervention (and equipment) And that's what the qualifies them for dla, the necessity for all the hard work in an attempt to get them to progress. Sn kids aren't static in development at all, far from it.

If they are saying your dd needs a specialist setting for nursery/ school, your dd has extensive needs that cannot be met in mainstream (in their opinion). This probably means a combination of physical and learning disabilities - it is unusual for a child with just physical disabilities to need specialist setting tbh. (although there probably one or two spec pd settings left. ) so you need to be pressing them a bit more for more information, and starting to think about this.

I think you need to be really robust at your next paed appt, and ask very blunt questions - I am well used to the 'isn't she doing fabulously?!' excitement and good news of the early years appointments - it's a very friendly and reassuring way of doing business with parents of very young disabled children. But sometimes it does mask the fact that they mean (for a child with a disability) and are not talking about in context with her peer group. And whilst most of the time we prefer to live that way, we also do need the cold hard truth sometimes (for dla applications, planning for schooling etc), and then we can go back to celebrating inch stones (rather than milestones wink.

Hopefully dd will continue to progress and narrow the gap between her and her nt peers. smile i do think it would be useful for you to get a neuro opinion on prognosis, though. And also to start asking the paed the harder questions, like 'why special school?' and 'why has no-one told me to apply for dla.'

Agincourt Tue 13-Mar-12 14:39:22

Children with special needs progress all the time. They progress because of all the physio and intensive therapy, and early intervention (and equipment) And that's what the qualifies them for dla, the necessity for all the hard work in an attempt to get them to progress. Sn kids aren't static in development at all, far from it.

Quite! Even children with profound and severe learning disabilities progress. I think this is something that is completely taken for granted by people

NoDontLickThat Tue 13-Mar-12 15:20:07

DP's daughter developed in the same way, even sat the same way too, she has Rett Syndrome, but it took 2 years (and countless tests, mri, blood tests, therapies etc) to eventually find out what was going on with her.

Agincourt Tue 13-Mar-12 16:13:49

Retts syndrome is usually the first thing that is tested for and ruled out anyway in girls with unexplained global development delays, so i would imagine it has already been ruled out.

misslala1987 Wed 14-Mar-12 17:53:57

hazeyjane no she has no problems feeding. though im always catching her feeding her dinner to the dogs! lol ive recently started giving her, her own spoon and baby fork to feed herself. she also has 2 bottles of growing up formula which she loves and feeds herself. i will ask about the m.r.i brief with a neuro. but again doesnt having a second opinion from great olmond st good enough? theyre the ones who writ the report. ill ask her physio therapist about rett syndrome just in case. my daughter is only 19 months so doesnt go school and doesnt go nursery as no i dont work anymore, i stopped before she was born and the companies non existant now so no plans to go back into work right nw. my other half works full time though. im not seeing the pedeatrician till june though so how can i actually request a m.r.i brief?

madwomanintheattic Wed 14-Mar-12 18:13:13

the neuro debrief isn't about getting a second opinion. it's about explaining the results and diagnosis in terms you can understand. so you aren't quibbling with the results, you just need to know what they mean.

so, in your shoes, i would be wanting to ask:

did the white matter not grow when it was supposed to? when should this have happened during foetal development?

is the fact she was 5 weeks premature because of this brain issue?

is the fact she was 5 weeks premature the cause of this brain issue? (i know you have had one set of docs answer this. i can only say that in my experience, i have had several different answers to similar questions from specialists)

why did it not grow? is there a possible genetic cause?

can white matter continue to develop post partum?

what does lack of white matter mean in an infant? and for her development? (loss of white matter naturally occurs during the ageing process with noticeable and demonstrable results)

what sort of disabilities are likely with lack of white matter? ie she has physical delays - are these 'delays' likely to reduce or increase in comparison with her peer group over time? is it likely she will 'catch up'?

are learning disabilities likely or almost inevitable with this sort of brain difference? (esp as the profs are considering special schools)

is there a support organisation that specialises in this area other than the 'brain' specialists bibic and cerebra? where can i find out more information or get in touch with other families? (note - 'contact a family' here might be of use, but i haven't checked their current lists. they usually have pretty much everything covered.)

what can we expect in 5 years time? 10 years? as an adult?

so, it's really about making sense of the diagnosis that you have received, rather than questioning the validity of their statements. and often we need to hear things repeated, or explained in a different way, before we understand what we are dealing with.

if you have the letter from gosh, i would contact the sec of the dept you dealt with (did you actually get a formal debrief from them - or did they just send a letter to the paed, who 'interpreted' it?) or speak to your paed's sec and ask what would be possible. explain that you are having problems making sense of comments from the physio and paed in the context of the mri results, and would like to understand more about the specific condition your dd has. and ask about dla.

our paed's sec actually got us a copy of dd2's second mri as well. so somewhere <surveys chaos> i have a disc with lots of pics of the inside of her head... grin

have a look at contact a family though - you might recognise some of the terms on their lists.

intothewest Wed 14-Mar-12 18:32:55

I think they are giving you confusing 'information' about CP. My DS has CP and was very floppy when younger.As someone else said,it can present in various ways.
CP is an umbrella term to cover a condition caused by an 'injury' to the brain eg: lack of oxygen reaching the deepest parts of the brain as in my DS's case.

I hope you get some useful help soon.
Specialist nurseries I agree are few and far between,but you may have an opportunity group in your area. The one we attended when DS was younger was very good with the use of a hydro pool.

sallymally14 Sat 11-May-13 15:01:11

Hi mislala 1987 hope you pick this up as my niece sounds just like your daughter at the same age, just wondered how you were getting on and whether you had any diagnosis yet

CouthyMow Sat 11-May-13 23:55:58

For my DS2, very similar profile, he has severe Hypermobility syndrome (scores 8/9 on the Beighton scale now, at 9.6yo due to pain from kyphosis preventing full range of movement, but was 9/9 when aged from 4-9yo)

At 9mo he was still as floppy as a newborn baby, and couldn't support his head. He started rolling over at 17mo. He started crawling at 3y2mo (ish). He took his first steps at 3y7mo. He had Physio from the age of 6mo, Piedro boots from the age of 7mo, from 1y+ I did 3 hours a day Physio with him.

He is now 9.6yo. He runs, climbs stairs, does most PE.

He does sit in exactly the position you describe, and he does suffer pain now (that he didn't at your DD's age).

The pain, though, has been caused by not having Piedro's to support his feet. Had he not been without them since he was 6, he probably wouldn't have the pain he has. Just 3 years without them did it.

I would insist on a referral to an Orthotist for assessment, to see if your DD would benefit from supportive footwear or inserts.

CouthyMow Sun 12-May-13 00:05:30

Is it scary that I have often wondered about CP for DS2? He had feeding difficulties (I had to syringe/spoon feed him BM for the first 3 months, couldn't eat solids until he was over 11mo, couldn't cope with lumps without choking until he was 22mo). He had SALT issues due to low tone.

Now at 9yo, he has both low tone in most areas, but severe stiffness in his legs.

CouthyMow Sun 12-May-13 00:08:38

Bum. Zombie thread.

sallymally14 Tue 14-May-13 10:38:51

We have been concerned about my niece for sometime. She was sort of soft when born, very sleepy (too good) baby really. She sat at about 8 months on her own but she hasnt really progressed. Sits well with legs straight out and apart doesnt seem to use them. She has just started to do a sort of bum shuffle at 18 months but she doesnt bend her legs just bounces on her bottom. Cant roll or pull herself up. Can weight bear but doesnt like it, can only stand when support, doesnt step at all.

My sister did ask about hypermobility because she can almost do the splits and then can lay her body flat on the floor but the doctor said no because her thumb doesnt reach her wrist.

Has always eaten well and has a few words but not many. The process of referral etc seems to take so long. Ive been worrying that its CP but havent mentioned this to my sister. She is just waiting for results but hasnt been offered any treatment physio etc.

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