DD has a diagnosis at last

[jenk1]

we saw the paediatrician today.

He said she has Benign Infantile Hypotonia, when we asked what that meant he said its a muscular disorder that will improve with time and its genetic, but no one on either side of our families has this.

He also said that DD is showing Autistic Tendencies - in his opinion HF but that he couldnt give a definate diagnosis until she was older,

I dont really understand the first diagnosis he has given so if anyone could enlighten me id be very grateful, he has referred her for SALT and RAST tests for her allergies-YIPPEEE at long last she is being tested for her allergies!

He was very very nice and patient and took his time and played with DD even though she shook her head and waved at him to go!!

So i feel relieved in a way, its strange but i knew she was probably AS/ASD but i dont know about hypotonia though.

Am interested in the horseriding. Took my DD yesterday, first time. not keen. frightened she'll fall. thinking will leave until summer. We went to an RDA lesson but not sure whether this will be right for her has CP - diplegic wears splints on both legs but is pretty mobile. Interested as why piffle doesn't get RDA classes does dd ride own horses or at a stables? New to mumsnet so apologies if changing subject slightlyl is a faux-pas??

Hi we had out own horse and my best friend has equinee establishment too, so dd has been around horses forever - she just loves it, not sure how she could ride before she could even sit up properly really? The RDA do not take very young children and most riding schools will not take under 3's -riding schools refuse to take dd now - insurance I think main reason. It is worth asking around a local pony club assocaition to see if anyone has a quiet pony -lead rein type that they would let you use under their supervision once a week etc to pet and groom etc to build up confidence that way.
Bizarrely, I think it is to do with the centre of gravity changing, she was never safe and solid on her feet but felt safe seated perhaps?

Not sure about the hypotonia other conditions link jenk? As far as I knoew 2 yrs ago, it was a very coomon side effect of Noonans Syndrome - that was my 1st evr experience of it - but it would be sensible to look for other underlying causes too I would have thought.

The RDA we went to didn't take any children under 3. There were 2 children with CP in our session, one very severe, unable to sit unaided so had 2 side helpers plus leader and her mum brought a sheet of that non-slip stuff to go on the saddle. You can always try a 1:1 at a local stable, you never know who might be working there. A friend of mine did that and she got a helper who had worked on an ABA program with a child with ASD!

what is noonans? sorry, dont know much about it.

Noonan SYndrome -basically heart condition, hypotonia some facial features, low eyelids -ptosis, poor vision, short stature and low weight, plus lots of other things, most of which dd has very mildly.
outlook is pretty good for ehr though as her heart condition (PVS is only moderate at the minute and not growing)
Thats a very basic rundown

sounds (dont take this the wrong way) interestiong. is it a combination of conditions that define noonans then? and what causes it?

yeah basically the heart condition and the low weight gain are indicators at first, then the "dysmorphic" features are usually discernible at 6 mths which was when we got our proper diagnosis although we were told when dd was 8 wks that is was likely she had it.
Its genetic but dd's was a mutation on its own, not handed down, there is a test but it is only on one part of the gene, dd tested negative but we a re still certain she has it...

My daughter is now fastly approaching 5 and is hypotonic and has a gdd, with all the weird and wonderfulness. We knew within hours of her birth that she had hypotonia, she is getting stronger and although loves being in her wheelchair, can also use a kaye walker.

My point is this, we were told that hypotonia is not really a diagnosis, but more a clue to something more deeper. At one point our peda, told us he could diagnosis congenital begnine hypotonia, but felt that was just an excuse and a diagnosis for a labels sake!

We are like you and looking for answers and an explanition as to why this happened to our wee girl, but it might be worthwhile getting a second opinion and asking more questions too.....

I do hope that I havent been too negative, as it must be good to get some answers, just make sure its the correct answers.

mulsey, you have hit the nail right on the head as regards to what im thinking about hypotonia.

The paed was very vague when he diagnosed benign infantile hypotonia and since monday i have been reading up on it and every website says exactly what you say-that it is a clue or a symptom of something else, in dd,s case the paed said she was showing autistic traits but wouldnt elaborate, we and dh think that the paed knows whats wrong but isnt telling us everything yet, its driving us mad,we think it could be CP as dd has problems with eating and swallowing and her bowels are affected also but we will have to wait and see

jenk1, it has been suggested before that my dd2 is either dyspraxic or AS. atm i am just relived we have been listened to about her mobilities problems that i feel i can deal with the rest later. its like a weight has been lifted from my shoulders.

our dd,s seem to have parellel symptoms misdee!

Our paed said that dd is showing autistic traits and as our ds is ASD/AS it is most likely.

does your dd have a higher pain thresold at all? dd2 can rip her knees to shreds and not an eyelid, if she bangs into somethign she smetimes 'fakes' a cry for a cuddle, but no real tears.

she fell over the other week and cut every single finger, we didnt realise till about 2hours later, because she had paint on her hands, that she'd actually cut herself. quite nasty ones too.

yes she does, she sometimes fakes a cry for a cuddle but she,s not really bothered, she,s always falling over when just sitting and we have laminated flooring, it must hurt her but she just lies there and waits for one of us to pull herself up because she cant get up off the floor.

sometimes it like dd2 is a beetle on her back trying to get up. its the only way to describe her.

the physio said she has good controlled movements (can squat and set up skittles) but has problems putting it all into sequence. she tripped over a 1cm deep mat that they had been working for ages doing the exercises and games.

Hi this a quick question for mulsey,
You say your approaching 5 yr old has GDD and Hypotonia like my dylan. He is nearly 3, I was just wondering when you said about the kaye walker how efficient you have found it??
We have had 2 for dylan but he absolutely hates them, did your dd ever react like that??
Also, does your dd take any independent steps??
Dylan can take up to 6 with the help of splints, he can also walk when holding my hand but he is usually all over the place and not very steady at all, but he has the determination to do it!!!
The physio doesn't know if dylan will ever walk unaided as he has been taking 6 independant steps for the past 8 months and has never got any further than that??
I suppose i am just trying to prepare myself as in january we are getting one of those pram efforts for him, rather than a wheel chair!!!
I am not a mind reader but it seems that we all have a lot in common on this thread and it is nice to know that i am not alone!!
Also does your DD speak??
Sorry to ram questions at you!!
Butty.xxx

Aw, its heartbreaking isnt it?

We were at FIl,s last night and they have been treating dd,s various illnesses as not a big deal,whats the trouble-sort of thing-she can stand up cant she?

Well yes but she,s 19months, well yesterday she was stood up and just feel over, well they were speechless and then started asking questions and seemed concerned.

It makes me mad when people say "oh she,ll grow out of it-its not a big deal" well yes, she might but she,s not like other 19month olds and to me that IS a big deal.

Hi jenk and misdee,
hope you are both feeling ok today??
I need to try and get on the net at night as always seem to miss you both when online!!!!
I shall have to have words with the evil partner and tell him that i also have a social life online!!!!!!!!!!! That should please him!!!!!!
I too have been looking at websites regarding hypotonia and i agree that it usually refers to something else.
I suppose i am avoiding the out come of the appointment on thursday and am probably happier to state severe GDD and hypotonia rather than something else!!!
Really starting to get nervous about thursday, i wish it was tomorrow or even today and then maybe i can put a little more into prospective!!!!!!
Butty.xxx

God Jenk, i know exactly how you feel!!!!!!
The other day my grandma did my head in going on about how much he's improved and that he will be fine just give him time!!!!!!
I know she is only trying to help, but then i get some friends saying that i am making a big deal out of nothing and that it could be much worse!!!!!
Well yes it could be much worse, but he is my son and not knowing whether he will walk independently or even speak i think is a big enough issue on it's own to worry about!!
Some bloody people!!!!!!!!!!!GRrrrrrrrrrr
Sorry to rant!!!!!
Butty.xxx

Rant away butty it does you good!

I love that thrase- "the evil partner" it made me laugh

Well we all seem to agree on something and thats that the diagnosis of hypotonia is a clue to something else-but what?

Hopefully you will find out on Thursday, incidentally yesterday i took dd into my old work place and i was talking to my old boss, she asked what was wrong with dd,s legs and i said "she has hypotonia" she said have they said "cerebral palsy?" and i said no, she said you need to ask them because her sister had it when she was a toddler and they were told that in a lot of cases hypotonia and especially if they dont walk good IS- CP, she said her sister is grown up now and walks fine although sometimes she needs a stick when she,s tired.

Hope you get the answers you want next thursday butty, i will be thinking of you

Jen

Hi jen,

They originally diagnosed dylan with Low tone CP, Hpotonia and also serious Otis Media.
After the Ct scan and blood tests they said that dylan didn't have CP??? Everyone else thinks he has.
At the appointment with neuroligist 8 months after the tests were done, she told me that dylans frontal lobe was inadequetley under developed and also that his chromosomes were inconclusive, so hence the MRI and Skin Biopsy.
I know that they know something and that they havnt told me. That is the worrying part!!!
Like i said, on the docs notes on the day of scan etc... It said to confirm DX!!!
I just don't know what to think anymore, although it may well be Mosaicism downs as that is sometimes hard to DX and more often than not is dx'ed later on.
He does have a few traits of downs, IE: slanty and very oval eyes, one of which is lazy. He also has a Flat head at the back and a very wide bridge between his eyes so they are very far apart.
A lot of people of asked whether he has downs, but i say no of which some look a bit surprised!!!
It is the only thing that i can think of given all his symptoms, learning disabilities and the physical disabilities and features.
If it isn't this then i dread to imagine what it is!!!!!!
Some times i look to much into things to get an answer, but some times i wish i hadn't bothered as it worries me even more!!!!!
Butty.xxx

someone once asked me if dd2 had DS. she has wide set eyes, the folds by bridge of nose and flat bridge of nose as well.

well at least i'm not the only one then!!!!!
It's quite funny though, as soon as people ask about dylan and i tell them that he has special needs more than a few have asked if DS??
Never mind, we can't help it that we have beautiful children and we are not judgemental upon looks!!!!!!!!
But if it does turn out to be mosicism it wouldn't at all surprise me after the research that i have done!!
Hope your keeping well??
Butty.xxx

went to physio today and they said dd needs special boots as when she stands she stands crooked and these boots will help her stand properly, felt really sad when they said that but if it helps her then its a good thing.

Hi Butty and Jenk,

this is turning into one of those threads that is so familiar to me...

Let me tell you about my daughter - we have found the kaye walker to be very efficient, although it did not happen over night. She started of with a rollator, and coped ok with that. However, I really wanted her to use the kaye walker, but she had ideas of her own as she hated it, and would scream the place down if put anywhere near it! So I took it home from the centre everyday for a month and we used it to hang coats on, leant things against it, rested our feet upon it, all the time it was in her space and she just got use to seeing it. After a while they tried it again at the centre, and this time she did not complain. They make her walk everywhere in it at the centre and shes even started trying to run in it. I hope that someday she will progress onto a crocodile walker, which is just another companys version of a kaye walker but looks slick and has front wheels that move in all directions. She would not walk if I was just to hold her hand and has never taken any independent steps. She use to wear piedro boots and now has splints. She is a wee bum shuffler, and will shuffle about the living room to reach anything that takes her fancy.
As for speech, well she doesnt talk, although does try, sometimes I feel as if im having a conversation with a wee drunk person with all the different sounds she makes. She does use makaton, and is doing really well with that. Only last night she put 3 signs together, to tell me that she wanted to watch the singing kettle, upstairs, in bed wow... She is also familiar with PECS and we hope to get some sort of touchtalker soon.
She has problems eating and drinking. She still uses a baby bottle and food is still blended so that its smooth. I dont think that she ever feels hunger, as she never cries for food or drinks. Her diet is supplimented with Fortini, high calorie milk drink - 3 a day.
Getting the wheelchair was a very hard decision to make for me, as we were also offered a major buggy too. I felt that the wheelchair would offer her some independance and it has. If you dont keep an eye on her shes off.........Another great piece of equipment is her new birillo corner chair on wheels, again, youve got to have eyes in the back of your head with it, as shes off!
Since 12 months shes undertaken conductive education and attends the Craighalbert Centre, although she will start our mainstream primary school next Aug, and will have a slow but steady transition. I think it will be nearly p3 before she is mainstream full time.
She has cranial massage, goes horseriding with the RDA, has had music therapy and we are about to try ice skating for the disabled using her wheelchair!!!Her hearing and eyesite are great, but high pitch sounds hurt her ears, shes quite sensory defensive, but that too is getting better.
Weve had more tests than hot dinners and she keeps passing them all, so we dont have any answers.
I could go on for hours, but dont worry I wont...Hope Ive helped alittle. At the end of the day no one has a crystal ball, no one knows what they will and wont do - what you put in, you get back out.
PS we were told by a couple of doctors she had autistic tendancies, but was not autistic.

thanks mulsey your post really helps, i didnt realise that these boots were called piedro boots, ive heard of them before but dont really know anything about them, would you be able to tell me a bit about them as the physio didnt say much, she did say to me thought that hypotonia was not the diagnosis and that the paed had asked her to do an assesment on dd some im left feeling even more confused now.