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?

 

[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

 

[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

 

[nearlythere38]

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

 

[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

 

[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

 

[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

 

[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

 

[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

 

[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

 

[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

 

[nearlythere38]

my baby girl Ava Nicole xx

 

[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

 

[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!

 

[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

 

[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

 

[nearlythere38]

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

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

 

[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

 

[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

 

[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