Optic Nerve Hypoplasia

[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

 

[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 :-/

 

[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

 

[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 But there's a lot if outdated n wrong information out there so I wouldn't pay attention to half of it!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

 

[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 but he is going to ring her paediatrician

 

[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

 

[nearlythere38]

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

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

 

[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

 

[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.

 

[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

 

[nearlythere38]

Hes just phoned and wants to see her tomorrow morning

 

[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!

 

[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.

 

[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.

 

[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

 

[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.

 

[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

 

[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

 

[nearlythere38]

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

 

[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