# Optic Nerve Hypoplasia



## colourful20

Hi

As my son was premature his eyes were checked at 5 weeks old for ROP. This came back clear but we were told that he has very small optic nerves and was given a diagnosis of Optic Nerve Hypoplasia. We were then informed he would need an MRI as this can mean that,the middle part of his brain has not developed properly (pituitary gland and hypothalamus). This is known as Septo Optic Displasia or De Morsier syndrome.

To have an MRI now would mean he would need sedating and putting on a ventilator so we have requested that this be delayed until he would not need ventilating. We are havimy blood tests to measure pituitary function so if there is a problem he can have medication to replace the hormones missing.

Has anyone else had ONH and it not be anything worse? Or if it was worse what issues does your child have?


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## nearlythere38

hello i know this is an old thread and you may not see this reply. but juat wondered how you went on with the optic nerve hypoplasia and the MRI?

my 13 week old daughter was checked by an opthamologist yesterday as shes not fixing and following; and we were told she has optic nerve hypoplasia. shes being sent for an urgent VEP test and MRI as suspected mid brain abnormality. i suspect this also as she has other symptoms such as low tone


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## xx_danni_xx

Hi My 9 month old son was diagnosed with ONH at 3 months old, he's also had an MRI scan to rule out further problems. Luckily his came back clear but it did show his pituary gland wasn't normal so were currently going through more tests to check his hormones etc. Hes totally blind with just light and dark perception and has been registered as blind. We won't know what he can see (if anything) until he's old enough to tell us. Feel free to private message me if you've any questions as I know when we first found out it was a massive shock and there's not much out there on ONH xx


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## nearlythere38

xx_danni_xx said:


> Hi My 9 month old son was diagnosed with ONH at 3 months old, he's also had an MRI scan to rule out further problems. Luckily his came back clear but it did show his pituary gland wasn't normal so were currently going through more tests to check his hormones etc. Hes totally blind with just light and dark perception and has been registered as blind. We won't know what he can see (if anything) until he's old enough to tell us. Feel free to private message me if you've any questions as I know when we first found out it was a massive shock and there's not much out there on ONH xx

thank you its nice to speak to someone who has been through this. did your son have the VEP? is that how they know that he can see light and dark? we dont know what she can see at this point but i suspect it may something like that, because she does look at things, and she looks at me when im close to her but i dont think she can see facial features.

does your son have any other kinda of development delay? xx


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## xx_danni_xx

Hi, I'm not too sure what a VEP is? When he got diagnosed they put eye drops in to make his pupils huge so he could see right to the back of his eyes using this machine (maybe that was a VEP?) and straight he told us that his optic nerves hadn't developed and he couldn't see but because his pupils react to light and dark that's what makes them think he can see light and dark. He's never looked me in my face and I know he can't see things but recently he's started focusing on black and white objects so maybe he can just see form. I don't know. 

He is obviously behind on his milestones and he has physio weekly to help him sit up etc and he's waiting for occupational therapy and portage. His left side is weak but they don't know why yet,he doesn't use his left arm as much but since physio it is improving. They have done loads of tests and so far they suspect it's just his sight that is the problem but hell be checked for hormone problems etc until he's an adult as there quite common with ONH. We've been "lucky" really in the fact that hopefully its "just" his sight that he's lost as most blind children have other problems and disabilities. 

What tests are you waiting for your daughter to have? Are you in the UK?
Xx


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## nearlythere38

with Ava i told them she wasnt following objects like i thought she should. they tried to get her to look towards a pen torch and she didnt acknowledge it at all. so they put drops in and looked in her eyes with that machine and said her optic nerves are very small and one is significantly smaller than the other, then said optic nerve hypoplasia. it was a lot to take in at the time. he said he was unsure how much she can see, so is sending her for a VEP, which is where they put electrodes pr something on her head and show her black and white lines on a screen, this will then measure the signals that go from the eye to the brain. also an MRI for mid brain abnormalities.

see she does look at my face but briefly and doesnt seem to be taiing much in, she hasnt smiled for me yet :-( she also does this strange thing when shes tired where her eyes roll about, im not dure if its just open eye sleep or some kind of eye/brain issue.

i am in the UK, in yorkshire. i know what you mean about you being relieved about other thing, im still at the terrified stage at the moment xx


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## nearlythere38

she also has low tone in her upper trunk and neck so her head tends tp flop back or to the side, she favours her left side (the better eye). she has a protruding tongue and a high arch palate, unknown at this stage whether this is related or not


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## xx_danni_xx

Oh I know what a VEP is now, yes one of the doctors mentioned it to me but as yet they've no plans to test Harry with that although I wish they would! There more interested in finding out if there's any other problems first with his pituary gland etc. Try not to worry to much about the MRI they had to give Harry a general and it was horrible watching them put my little baby asleep and it took ages think it was around 3 hours! But he was absolutely fine afterwards back to his happy self. 

Have they mentioned nystagmus to you? Harry's eyes roll around a lot and are never still especially when he was around 3 months and they diagnosed him straight away with nystagmus before they diagnosed the ONH they are a lot better now and hardly noticeable so maybe Ava's will get better as she grows. 

Harrys MRI showed that although both optic nerves are under developed the right is smaller then the left. But his weakness is in his left side which should be his better side so god knows!

It's ok to be terrified I'm still terrified now but it slowly gets better. I was absolutely devastated that day I found out he was blind we was told to expect him to need an eye patch at the very worse so you can imagine the shock, even now it's hard to accept the fact my child will never see. I totally understand how your feeling but once all the tests and the endless hospital trips are over it slowly gets a bit better xx


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## nearlythere38

they didnt ask about eye rolling they just asked me if her eyes shake, which they dont. and i was so overwhelmed at the time i didnt say anything. she only does it when shes tired.

thank you for this, it helps so much to speak to someone whos been through this. im struggling with it and im not sleeping because its always on my mind. her VEP and MRI are in 2 weeks time so i will update this thread if and when we know any more.

your little man is gorgeous  xx


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## maisie78

Hi nearlythere. Danni mentioned that she was speaking to you so thought I would jump on too :) Although it is due to a different condition my little girl is also blind. We thought she had a squint because her left eye drifted out so a 3 months were referred to a specialist. It's just been a roller coaster ride since then but the outcome is that Gabriella has a very rare genetic condition and was registered blind in May. It came as a massive shock after thinking it was something as simple as a lazy eye. She has developmental delays linked to sight loss but is now waiting for physio and occupational therapy. I know how terrified you must be right now but please trust me it does get better. I realise Danni will probably be able to help more as her little fella has the same condition but I will offer all the support I can so feel free to message me any time xx


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## nearlythere38

thank you i really appreciate that. the opthamologist wasnt very helpful he said all this stuff so fast to me, and then said he was referring her to the councils visual impairment team so they can come out to us at home....and i was like woah...whats happening here?!?! then i found that Google is evil and i really shouldnt look but its my nature that i want all the info straight away.

did your los have delayed smiling? breaks my heart that my baby girl cant see me smile at her


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## nearlythere38

my baby girl Ava Nicole xx
 



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## maisie78

Aww she's beautiful, all that lovely hair! 

I honestly can't remember if smiling was delayed but t be fair she is our only child so I guess I had no basis for comparison. She has a beautiful smile now though and lots of things make her laugh. We have found that silly sounds have become our funny faces and we can always get a giggle from her. I know what you are saying, the fact that Gabriella would never know my face made me cry so many many times but I am coming to terms with it and I now realise that she stills always knows who her Mummy is from my voice, my smell, even my footsteps when I come in to the room. She knows whether it is her Dad or I that come in to get her in the morning. With the smiling try putting her hand on your lips when you smile so she can feel what you do. I taught Gabriella to chew by doing a similar thing.

We did struggle with all the language that the ophthalmologist used and would often come away thinking we had understood everything he had said only to realise we had taken in very little. Make sure you write anything you want to ask down before your appointments because I guarantee the minute you go in to the room with them you will forget what you wanted to ask :)

Where are you attending? We are under Birmingham and they have been brilliant x


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## maisie78

And definitely DO NOT google, you're right, it's evil! Ask your Drs to give you some sites they recommend you read because there is a lot of outdated and incorrect information on the net and some that I personally think just sets out to scare you!


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## nearlythere38

aww just reading that set me off again! im glad to hear that it gets easier. i defo think she knows her mummy cos if shes upset with anyone she always settles when she gets in my arms. she looks at me sometimes like shes seeing something. and when daddy comes home from work she definitely hears his voice and knows its him.

i have two boys, and ive noticed differences since birth with Ava. they were smiling by 6 weeks and cooing at me, trying to bat at their bouncer toys etc. Shes 14 weeks and not doing any of it. i guess thats why i have continually told doctors that theres something not right. repeatedly i have been told (by senior paediatric consultants) that my daughter was fine and there was nothing wrong, and that they thought i was post-natally depressed.....and here we are now with this diagnosis. thats partly why i think my gut instinct is right that there is a brain issue here as well. 

were under dewsbury hospital but parts of her treatment and tests will be at Leeds and Pinderfields x


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## maisie78

Gabriella definitely wasn't smiling at 6 weeks, I think it was more like 10 weeks because I know she smiled at my sister at Christmas and she was 3 months then. Saying that, at that point she still had some sight in her right eye, she didn't lose that fully until around 6 months. She never went for the toys on her baby gym though, why would she if she couldn't see them? We got her a musical and light up gym though and that really brought her on. She learned very quickly that when she bashed the dangly toys the music started again. Speech wise she is quite advanced, or so we have been told, and is already using the words Daddy and again in context. We read to her every da and have done since around 3 months. We skipped age appropriate books obviously as they are mostly pictures and went straight to the likes of Julia Donaldson. Gabriella adores the Gruffalo and What the Ladybird Heard, I think it's the rhythm of the words.

It does take a while to get there and it is painful, there is no denying it hun but it will happen. I read the poem Welcome to Holland and although I have read that some people don't like it, it really spoke volumes to me and said everything I was feeling but I especially liked .....but what if you're still stuck at the airport.

Here is the link if you want a read
https://www.undiagnosed.org.uk/archives/512

Xxx


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## nearlythere38

i love those.....they are reading my mind!!

thank you both for your support.will keep u informed xx


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## xx_danni_xx

Everything Debbie has said is so true,she's gave some good advice. You'll eventually find your own way of doing things and helping Ava learn new things, you'll still be getting your head round everything now. It was 6 months ago since we found out Harry was blind and I feel like iv come on so much since then,just talking about it has helped,especially talking to Debbie because she knows exactly what I'm going through so hopefully it'll help you feel a little better by just talking to us and getting everything out basically, cos no one can truly understand what it feels like to have a blind child unless their in that position themselves. 

Hopefully Ava's MRI and VEP will go really well and there's still hope that things aren't as bad as your expecting. I know with ONH that I was told that most of the other problems that come with it such as hormone deficiencys can be easily treated. To be honest it doesn't get much worse then being told your child is blind! You said that sometimes its like Ava's looking at you? Do you think that she's focusing and can see you? Harry has never once looked me right in the eyes, he looks at my face but only if I speak and he's following my voice not making eye contact So I definitely know he can't see me. One thing my ophthalmologist did tell me was that with ONH it can never get any worse-only better. And already Harry has started looking at black and white objects. It's not much but it's something. Iv accepted he'll never see my face and it totally breaks my heart but at least he can hear and feel how much I love him. I'm really sorry your going through this,it's horrible and scary but believe me it gets better. Get all the support you can and don't be afraid to ask questions. Feel free to message me when ever and let us know how Ava gets on with her tests, she's gorgeous by the way,love her hair! 
Xxx


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## nearlythere38

its hard to explain really cos im not sure myself. but when im holding her near and talk to her she looks at my face, not eye contact though, i wonder if she can maybe see my shape as a blur but no detail. ive been showing her lots of toys that light up and she will look at them briefly, so i think there is something, just a matter of how much really.

it has definitely helped speaking to you both, thank you. i will be in touch again xx


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## nearlythere38

Quick update....Ava smiled for the first time yesterday at 15 weeks. In fact she smiled lots all day. Practically cried each time  none today but thats ok. Weve made progress.

Cant remember if i mentioned before that the provisional diagnosis for ava was cortical visual impairment )with optic nerve hypoplasia)...im definitely thinking that diagnosis is right. I think she can see better when she is moving. When i move her up and down quite quickly she looks around and seems to see bettee, thats how i got the first smile. Also last night she was laid in her crib and i put her projector cot mobile on. She looked at it and then started moving her head from side to side quickly. What ive read abput cvi it looks like a typical technique they use to see better


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## xx_danni_xx

Hi,
Aw that's great news about her smiling :) can imagine just how proud it made you!
What is cortical visual impairment? I've never heard of that, it sounds promising though that she's looking at her mobile etc. Harry literally doesn't look at anything,he smiles and laughs all the time but only at noises or our voices. He's really good at following voices and you'd never guess he was blind from the way he seems to look at you when you talk. It honestly sounds quite positive for your Ava,fingers crossed its good news on her MRI scan and then you'll know for sure. I can't wait until Harry is talking and then we can know for sure what he can see,up to now I know he can see light and I think he can see black and white but that's all. 
Did they fully explain ONH to you? It varies so much so some babies might just have a few hundred nerves missing which obviously affects their sight but they can still see and other babies have thousands and thousands missing (or too short) and it makes them near enough blind (this is Harrys case) and then there's the really unfortunate people who have absolutely no nerves at all and they are completely blind, that's really rare though. It sounds like your Ava is in the first case :) hope it goes well xx


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## nearlythere38

No he was useless he didnt explain anything. He told me her optic nerves are small, one moreso. Then he transcribed the notes into the dictaphone in front of us and said a lot more including - optic nerve hypoplasia, mid brain abnormality, sluggish pupils etc. And because we had been sent up to him straight from the paediatrician he gave me her file (in an envelope) and said take this back to him so he can request the MRI......so i did the obvious lol.....opened the file and read the notes. 

The notes said all of the above and how she wasnt responding visually. Then at the bottom there was a box saying provisional diagnosis, and in that box he wrote 'Cortical visual impairment'. So thats how i know!

From my research, CVI is where the eyes present pretty normally but the picture received in the brain is jumbled. There is usually damage in the brain somewhere causing this. But it can also present with small optic nerves etc. With CVI the visual ability can be good to nothing, and can be better on some days than others, better when looking from certain angles, better when the child/object is moving etc. She does seem to be showing signs of this. It gives me hope that there is some vision there, and backs up my belief that she can see my shape but not my facial features. Well only a week now until the VEP test xx


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## xx_danni_xx

Oh right that's good you got to read her notes! I wish I could read Harry's! I've had a little look on wiki about CVI but it's quite a confusing impairment! It's good though hat you think she can see,even if it's just your shape that's so much better then nothing! And she's still so young so if she can see that now it gives you a basis to work on and hopefully her sight could improve! When Harry was that age his nystagmus was so bad his eyes were never still and he reacted to nothing! But now his eyes hardly flick except for when he has his "bad days" and he reacts to light and dark and I'm sure he can see black and white! 

When's your VEP test? Is it this week? Make sure you let us know how you get on :) got my fingers crossed its good news for you all! Xx


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## colourful20

Hi all

Its nice to read your stories. I'm the person who initially started the thread. My son Lucas has had hormone testing, the first came back outside of the normal range for thyroid. They retested and it came back normal.

He then had an MRI scan which did not show midline abnormalities but did show higher than normal cerebral spinal fluid and slight atrophy of the frontal and parietal lobes (as read off the doctors screen). Not sure how this will affect him, its more a wait and see. For the high CSF we have to monitor his head size.

Visually I don't think Lucas has to many issues, which is a good thing considering all the other things he has going on but we are back at the opthamologists on Tuesday and the paediatrician on Thursday. Hopefully no more negative news - although we are likely to start treatment on a haemangioma he has on the side of his head as it is causing him problems.


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## nearlythere38

Hi there

Sorry for hijacking your post!!

I guess good news that his hormone and midbrain are normal, as for the other issues i havent heard of them so no idea what they mean, im sure its been difficult not knowing what they mean and having to wait for outcomes. Fingers crossed for positive news for you. 

In terms of his vision, how do you think it is affecting him? And do they have any plans for how they can help with the ONH?

Ava had her VEP test on Wednesday. It was a nightmare. Totally unpractical, had to hold her up to a machine with her chin resting on it, while they flashed a light in each eye at a time for around 5 minutes. She screamed blue murder and wouldnt keep still but they managed to get what they needed. We dont have the results yet because they need to be interpreted and sent to the opthamologist. They said it only takes days so im hoping we may know this week. She has her MRI scan tomorrow which i am dreading! Busy week for us, my oldest starts school 

Busy week for me,


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## xx_danni_xx

Good luck with the MRI scan tomorrow :) just a warning we ended up having to stay in overnight just because of the general they gave him so they wanted to do overnight obs. Hopefully this won't be the case for you! They also told us we'd have results in days but it ended up taking nearly 6 weeks! I was fuming!

At least she's had the VEP test now although it sounds like it was a total nightmare! I'm going to request one for Harry when we go back to the hospital on weds. 
Hope your oldest has a lovely first day at school :) xx

Colourful- that's good News about Lucas' MRI scan and hormone tests :) with regards to the ONH what do they think he can see? Is he going to be or has been registered blind/sight impaired? Hope it goes well tomorrow for you :) xx


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## nearlythere38

Well it did not go well. Had to feed her and get her to sleep before it, they were running brhind and by the time it got to her she woke up. They attempted to do it, managed the first few minutes and got some images but couldnt get any more so stopped. They will send the images to our paed and he may be able to mae a report but chances are he will want her doing at another hospital under sedation. Right waste of time really!! 

Yeah danni i would definitely request the VEP, suprised they didnt do it already x


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## xx_danni_xx

Really sorry to hear it went so badly :( I can't believe they did it while she was awake!! They gave Harry gas at first to knock him out but the breathing tube kept coming loose so they ended up giving him a general. I had no option for him to have it done awake as they told me they never do MRI scans on babies while they are awake as they move too much and it can be dangerous! What hospital are you at?! They took hundreds of images of Harry he was in for about 3 hours I think it was. 
I really hope they managed to get some images and it's good news! :) xx


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## nearlythere38

Its a crap hospital and i wish we had never gone there but the others are a bit too far. I phoned the genetics hospital today to find out when her appointment is and they said theve never received her referral.....so thats 5 weeks wasted! They said the waiting time is 18 weeks which takes us to mid december....seriously??? They said if the doctor can send it as urgent they will get her on the next clinic. So i phoned his secretary and she faxed it througg as urgent.

The whole process is so bloody slow and unorganised.How frustrating it is for us parents just having to wait. Our children could be missing out on important treatment :-(


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## nearlythere38

Danni when does Harry have his further tests on his hormones etc. And what are they? X


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## xx_danni_xx

Oh god don't get me started on forgetting to do referrals! The first time I took Harry to the docs about his eyes,on my HV advice he said he'd refer it straight away to the opthomologist, 6 weeks later I hadnt heard a thing and so chased it up only to be told he had a misunderstanding and thought we was "just keeping an eye on it" I went mental! I'd gone in there thinking my baby was blind and he totally fobbed me off needless to say I soon got an appointment and that's when he was diagnosed. I could of took it further but I had enough on my plate! I'd keep ringing them if I was you,in my experience the more you get on their back the faster they see you! Mid dec is ridiculous!!
Iv been waiting nearly 6 months now for the visually impaired team to get in touch and social services where meant to contact me 6 weeks after Harry was registered that was 7 months ago! Honestly it's a joke,the amount of waiting around! Anyway rant over lol :)

He had his hormone tests about 7 weeks ago they tested growth hormone,hypothyroidism, diabetes Insepidus and something else which I can't remember! One test came back a little elevated but she's just going to repeat it next time and they couldn't test for the diabetes as they ran out of sample so he's getting that tested in a few weeks. But they'll continue to test him every few months until he's an adult as growth and hormone problems are so common with ONH. 

Have they told you which tests Ava will be having next? Xx


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## nearlythere38

Omg thats unbelievable!! I bet you were so angry! You would think things would be faster for babies! Weve been referred to the visual impairment team too, didnt realise we would be waiting months. 

So is it special testing for those hormones or is that checked in a full blood test? Ava had a blood test in July and chromosome testing which all came back normal but i dont know if hormones were tested.

I am just waiting and biding my time but i am going to take things further. There have been a lot of misgivings and im very angry about them. 

The only tests i know of are the MRI and the VEP. Shes also to be assessed by a geneticist because her tongue has protruded since birth. X


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## xx_danni_xx

It might nOT be months for your VI assessment, I know Debbie (Maisie) has had hers and she wasn't waiting as long as me, she said it wasn't that useful though and was more about the future and schools etc. 

No the hormone tests were requested by the endocrinologist which the paed referred us to. They took loads of bloOd when he had his MRI but then said they couldn't use it as it needed to be fresh. I wasn't happy about that!

I would take it further I I was you, I know in the beginning I wrote about 6 pages of everything that had gone wrong and how I'd been misled etc by the HV docs paed I had the intentions of taking it further once things were sorted with harry but its been so long and were still not at the end of it that Iv Lost all motivation to do it. I hope you do though! I think a lot of people who's babies have been diagnosed as blind feel they are just left to get on with it. I know I once read an interview by Katie price and she was saying when Harvey got diagnosed she was just basically told yeh he's blind, see ya. So apparently it doesn't matter who you are!! 

That's good the your nearly through with all the tests hopefully The wait for the genectist won't be too long! 
How is little Ava doing anyway? And are you coming to terms with it nOw? Don't think we ever quite get over it... Xx


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## nearlythere38

Ah ok we havent been referred to an endocrinologist as yet but i think we need to be. Im concerned now over Ava's weight gain. Shes gaining rapidly and shooting up the chart. At birth she was on 20th centile at 6.11lb, and last week she was 16.2lb and on the 91st centile. Ive weighed her yesterday and shes gained a pound in 5 days, taking her to 98th centile. Shes only short (9th centile) so she looks so chubby. Next time she gets weighed i bet shes off the chart.

Yeah ive got it all written down. There were some issues during my c-section as well and i ended up almost flatlining so i am concerned that she had a lack of oxygen. 

Apart from being a fatty chops shes ok thanks. Not much change really, she smiles now but its at our voices and at jiggled around as opposed to seeing us. 4 months old now, cant hold her head up much and not holding/reaching for things
I think im getting my head round it, but until i know what it is that i am actually getting my head around i cant really x


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## xx_danni_xx

I'd mention the weight gain next time you go back to the hospital as I know that fast weight gain or loss could be related to a growth hormone issue, not trying to worry you but just worth a mention and then if it is she can be easily treated. They told me not to worry if Harry develops a growth hormone issue as they can all be easily treated. 

I wouldn't worry too much about her not holding her head etc Harry is over 10 month old and he still can't sit up unaided or roll over. He's rolled about 4 times and that's it! Iv learnt to forget about the milestones and just let them develop as they are. A blind child is always going to be behind a sighted child with things like sitting walking crawling etc and Iv gradually learnt to accept it. But it's hard at first and I can imagine its even harder for you as you have your other two children to compare to where as Harry's my first so I didn't know what to expect and I don't really know how easy I could of had it as Iv nothing to compare him too xx


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## maisie78

I agree with Danni, throw milestones out the window because you will be disappointed. Instead celebrate what she does do because trust me it becomes all the more exciting when they achieve goals. Danni and I love swapping Harry and Gabriella's 'firsts' and they feel so much more special because we know they have worked harder than other children for them. Gabriella is sitting up on her own now but is still not pushing up on her hands when on her tummy, she just licks the floor :) But I know she will get there when she is ready. 

As for the referrals, bloody tell me about it grrr. We didn't even see a paediatrician until May and that was the day before she was registered blind. They just kept forgetting to refer us. It really did feel like we were told ever so sorry your baby is blind but anyway off you go cos you're holding up the queue :( Things are improving now though finally so just keep mentioning it and chase any appointments you should be having up.


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## nearlythere38

Yeah i am learning to do that. Its hard not to compare. As every milestone passes i think - my boys were dping this by now. They were both in their jumperoo / walkers by now and laughing etc. But i am getting used to it. I understans what u mean about appreciating it more, we have to work so hard for a smile but when we get one its the most amazing smile weve ever seen!

Have you noticed how the flash appears in your babies eyes in photographs? Ive noticed in photos the flash is totally off centrered and different in each eye


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## maisie78

Yes very much so. Gabriella doesn't get red eye her pupils if caught at the right angle are glass-like. 

Your lo can still enjoy the jumperoo. Gabriella really loves hers and has been in it since around 4.5 months. She was late going in it because she's a bit of a shorty lol :) We've been wondering what we will have as an alternative because she is close to growing out of it and we just know she will be gutted :)


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## xx_danni_xx

Iv never actually took a photo with the flash on cos he tends to shut his eyes at bright lights but I'm going to try it tomorrow now you've both said that! I sold our jumperoo right after finding out he was blind as I went through the phase of what's the point if he can't see it, but I wish so much I'd of just waited cos I think he'd of loved it as he loves his door bouncer but he's nearly outgrown that now as well! It's so hard cos things like walkers and bouncers etc our babies will be in for longer but because their designed for babies without disabilities the max weight and age on them are too low! I know they do special needs bouncers and swings etc but there stupid money!

We had our appointment with the paed yesterday and I mentioned the VEP test and he was shocked he hadn't had it already so he looked to see when he's next with the opthomologist and surprise surprise no appointment had been made!! So he's faxed it through for us and hopefully hell be seen soon! And we also got referred to a genetic consultant to test me and Chris to see what our chances are of our next child having Harry's condition. Finally there listening cos Iv asked this question loads and they usually just say there's no test that can be done! Plus we've been told the visually impaired team should be in touch by next week and portage. Finally feels like we're getting somewhere! Xx


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## nearlythere38

Its not so much the vision why i cant put her in her jumperoo its cos of her head lag she just flops forwards i it. 

Danni thats fab news. Hopefully things are moving!!


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## xx_danni_xx

Hi nearly, how's little Ava doing? Have you had any test results back yet? Just wondered how you was getting on Hun :) xx


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## nearlythere38

Hiya shes ok thanks. Well actually shes been unsettled for a few days now and seems to be refluxing more. She had some cranial osteopathy yesterday and he said she has stiffness in her limbs and tends to keep her fists clenched, so i want to discuss that with the doctor.

Tomorrow i am taking her to be weighed at the doctors baby clinic.....i have weighed her on my scales and am alarmed at the gain, but cant take it as gospel with it not being proper scales, but if its right im going to ask for referral for hormones checking. 

Having a shit few days. I wish i could stop googling stuff :-/


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## nearlythere38

She keeps hitting herself in the face as well and making herself jump. Her movements are so jerky. Do either of you find your los startle a lot? Ava is very sensitive, any sudden movements and sometimes just moving her startles her and makes her hysterical. Noises too x


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## xx_danni_xx

It's so hard not to google stuff I still do it now! But there's a lot if outdated n wrong information out there so I wouldn't pay attention to half of it!
Yeh you should get her weighed and if your worried I'd definetly be asking for a referral. Harry has more hormone tests next month so if they come back clear that should be it for the next 4-6 months hopefully!

With the stiffness have they not referred her to physio? Harry has been having physio just to help him start rolling and sitting and he's made such big improvements since having it but we had to wait 5 months so if he'd had it earlier it'd of been even better. Maybe worth asking your doctor about it?

Yeh Harry startles easy sometimes and certain noises he hates and it scares him. He's got a lot better now he's older but even now I always warn him when picking him up and things like putting him in bath we have a little bath song lol so be knows what's coming. She's probably like that due to her sight and not being able to see as well, that's the case with Harry anyway. 
It probably feels like one thing after another right now and your bound to feel a bit down n shit about it all, it will get better and easier I promise. Just take each thing at a time and try not to over think things. I was always constantly worrying about the future and teaching him stuff etc but now I just take each day at a time and try and enjoy him just being a happy baby. Cos I was starting to miss out on all that with worrying. Even know I don't no where I'm coming or going with all the appointments it's the first time in my life iv had to use a diary lol I'd be lost without it! Let us know how the weigh in goes xx


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## nearlythere38

Yeah she was referred to physio 2 months ago, still waiting.

Had her weighed - 17.15lb. Now on 98th centile, from 9th centile at birth, and 3 centile jump in 7 weeks.. Stupid arse of a doctor said stop feeding her so much:growlmad: but he is going to ring her paediatrician


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## xx_danni_xx

What an asshole that doctor is! Especially when her condition means there's a good chance there could be a hormone problem! Hopefully you'll hear something soon. Harry's lost weight he's dropped from 50th down to 9th and weighed 18lb 8 last week. They said not to worry though cos he's been teething bad so not eating as much but my health visitor had told me on her last visit he was on to many bottles n to drop to 2 7oz bottles a day! So I did do and now he's lost weight so iv put him back on an extra bottle! Doctors and health visitors etc drive me mad sometimes, I think mummy always knows best! Xx


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## nearlythere38

How old is he again? Avas nearly the same weight as him:wacko:

She screams for her bottles as it is so god knows how im supposed to cut it down. Shes vomitting up more than ever as well so she doesnt take the whole 6oz. I fed her whe we got in at about 10.45 and she hasnt stopped screaming since. Just gave her some potato and carrot and now shes happy


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## xx_danni_xx

He's just over 10 month old he'll be 1 at the end of October. Harry had reflux when he was younger but not as bad as Ava it sounds. Does she enjoy food then? Harry's only really started eating lumps and finger foods in the past month. He wouldn't eat anything but purees for ages! Think it was the texture and cos he couldn't see what I was putting in his mouth. Is she holding her head up better yet? Xx


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## nearlythere38

Oh thats scary that shes nearly the same weight as him lol!

We just started weaning on the advice of the dietician, due to her reflux tbey said she will probably be happier on solids. She does seem to like it. Weve only introduced porridge and now potato and carrot puree. The tongue gets in the way a lot. 

I phoned the paediatricians secretary last night, only turns out hes bloody left. Im so pissed off. She checked on her record and could see that the mri people said it couldnt be done so needs doing under sedation, but couldnt find anything to say that this had been requested. I told her that the GP has been tryi g to ring him about her weight gain. She has been assigned a new doctor and is going to discuss ava with him today as she said it sounds like she needs seeing.


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## nearlythere38

https://s959.photobucket.com/user/Emma_Hosier/media/20130912_083248_zps6a92bfdd.jpg.html caught a smile but it wont let me upload it for some reason


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## nearlythere38

Hes just phoned and wants to see her tomorrow morning


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## xx_danni_xx

Aww how cute and big is her smile! So cute! :)
I can't believe your doc left and they didn't think to tell you! It's good that there seeing you so soon though you'll have to let us know how you get on. I'm still waiting for the visually impaired team to be in touch they promised they'd be round this week and what a surprise no sign of them so iv to chase that up. I think if we left it up to doctors etc nothing would ever get done, just feels like I'm constantly chasing up appointments and trying to get answers! It's been 7 months now and I still feel like we've hardly got anywhere with regards to seeing the right people and knowing more things and answers! Xx good luck tomorrow!


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## nearlythere38

I am definitely learning that i have to chase up everything and be a pain in their arses, i can tell whenthey hear avas name they think - ugh you again lol. 

So her new doctor saw her today, and agrees there is definitely something not right. In terms of her weight he said there isnt much we can do, shes not having too much milk so weve just to keep watching it. But he is concerned over her movements. Her trunk is floppy so she tends to flop forwards/sidewards, however her actual movements are very jerky. She hits herself in the face, and she tried to suck her hsnd but she cant keep her hand there as it jerks away. She also jerks backwards very suddenly. I told them about this before and they dismissed it as being part of her reflux. He said he suspects it may be some type of seizure or spasm, so has ordered an 'urgent' EEG. Hes also ordered a hearing test. 

He said that there is strong suspicion that Ava was born with a genetic syndrome which is causing a lot of this, and we need the genetics appointment. He said the chromosome test she had only looked at basic stuff like her number of chromosomes, but the geneticist can look into specific chromosomes for abnormalities. 

He also suspects a brain abnormality but needs the MRI results before he can confirm obviously. 

He also tried using the torch on avas eyes from various angles. When he shone it at her right (the significantly smaller nerve), and at the front there was no response. When he moved to her left side she moved her eyes so i think she saw something.


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## Ivywal

Hi, I have just been reading this thread and saw so much in common between Harry and Ava and my 8 month old Maggie.

The first thing we noticed was the eye problems which has lead to an MRI that showed abnormalities in her brain. She also has seen the endocrinology team for her hormones and her weight is off the chart for her length. We have seen a geneticist and she had no obvious problems in her basic screen, we are just now discussing if we will have any more detailed testing. We have been seeing a physio and OT as she has low muscle tone and isnt sitting well. The OT is a specialist in visually impaired children and has been brilliant. 

Nearlythere, I had a bad time with the MRI too, we fed and wrapped her but she woke up every time that machine started to bang. The pictures were not perfect but seemed to show them everything they needed. I hope you can get your results soon.


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## nearlythere38

Hello ivywal, i would say its nice to talk to another with this experiece, but i am sorry that you are having to experience this too.

would you mind me asking a bit more about Maggie? What vision problems does she have? Did they find any hormone problems? And what was the brain abnormality?

Its good that youve found a good therpist. Has she been referred to the visual impairment team? Xx


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## Ivywal

Hi Nearlythere, I am just learning about this forum buisness and lost my reply due to a time out...I will try again.

She has had a squint from birth that was bad enough you couldnt see her iris a all. We saw the opthamologist who looked inside and she has a coloboma which is a defect in the back surface of the eye. He sent us off for the further testing as this like the OPH is linked to other issues. Her optic nerves are said to be Ok but she does have hypoplasia of her muscles around the eye. She has had one surgery to straighten the eye already but will need a few more, We cant be sure she has any vision in that eye but she cant use the eye at all so we are working to straighten it so we can find out.

The issues that the MRI showed are increased fluid spaces, a thin corpus callosum and a missing septum in one of her fluid spaces. No one has been willing to tell us what this will or wont mean for her development, i suppose they cant know so dont want us to worry too much. She is laughing now unprompted and nearly sitting so I am feeling like she is only a little behind which is promising.

She has Ok hormones mostly but for a decreased growth hormone. They have told me in babies the level consodered normal is white wide so we have to keep watching all her hormones as she grows as they may become deficient. For the growth hormone they can supplement if she needs it, in Australia you have to apply to have it paid for so we need to get her height and weight measured every 6 months to prove that she needs it

We have seen a geneticist who did a basic chromosomal screen which didnt show anything, we are now discussing if/when we might have some more detailed screening.

I am sorry to hear it is taking so long for you to get the MRI results, I think Drs forget how stressed we all get and forget to factor this into their scheduling. 

How are your bigger kids coping with all the appointments? I am a little worried my eldest (nearly 3) is sensing the stress. She will occasionally say 'doctors for Maggie' when I ask her what she wants to do today.


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## nearlythere38

Aww such a lot for a little girl, hopefully when the eye gets straightened she will start using it. Sounds like shes doing well with her development!

i wanted Avas growth hormone checking but he said not until shes had her mri. He seems to think her weight gain is part of a syndrome. 

Yes my oldest has picked up on all the hospital visits. On two occasions weve had to stay in the ward for a few nights which the boys found unsettling, they stayed at home with their dad and became very clingy. He doesnt notice now with him being at school. At some point we will need to talk to him about ava but when and what to say i do not know.

Shes got an EEG on wednesday, got letter yesterday


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## maisie78

Hi guys. I just wanted to let you know I have been keeping up with your posts but struggling to get the time to reply. I'm sorry you're having such a tough time with it all nearly. I hope they get Ava's MRI right this time. I was surprised they even attempted it without anaesthetic last time. I will keep you in my thoughts xx 

To answer a couple of your questions though. Gabriella had a terrible startle reflex and had to be swaddled or she couldn't settle at all for sleeps, naps or even just a rest. We couldn't wean her out of it until nearly 7 months and even then she had to have a zipadee zip pod type thing for another 4 weeks. O honestly think the only reason she isn't in it now is because she just got too hot in the Summer. 

As for the noises Gabriella has always generally been ok. From the off our 2 dogs barking never even made her jump but the weird thing is that now she is getting older she is starting to get quite worried at the sound of them getting excited so we're having to monitor that. She also has certain sounds that scare her which can be totally random. For example she has a vtech cow toy that makes moo sounds which she loves and yet at the hospital this week they had a barnyard toy and the cow sound made her cry. It's really hard to keep up sometimes lol :)

Anyway will keep my fingers crossed for Ava's tests xx

Also just want to say hi Ivywal :) Sorry we're meeting under these circumstances but welcome xx


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## nearlythere38

Do you ladies think it might be an ides to start a new thread for parents with visually impaired children? X


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## xx_danni_xx

Hi sorry iv only just got chance to reply, that's good she's got an EEG so quickly! How long will it take to get the results back? Have you still not got the MRI results yet? 
Yeh I think we should start another thread for visually impaired children, were all in the same boat but from different conditions. 
Ivywal sorry to hear your going through all that, can seem never ending with all the different tests! Xx


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## nearlythere38

hey will contact the paediatrician pretty quickly if there is a problem with her eeg results. Still no date for mri or any contact from physio, ot, dietician, genetics or visual imparment tesm.so frustrating.

Heres the new group - 

https://babyandbump.momtastic.com/s...children-visual-impairments.html#post29589057

I thought it would be nice to have a little bit about us on first post so any new members could see what issues we discuss so if you could send me yours i csn edit it


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