Optic Nerve Hypoplasia

[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

 

[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

 

[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

 

[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.

 

[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,

 

[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

 

[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

 

[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

 

[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

 

[nearlythere38]

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

 

[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

 

[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

 

[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

 

[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

 

[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

 

[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.

 

[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

 

[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

 

[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

 

[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!!