Support for parents of children with visual impairments

[nearlythere38]

How are we all? Scary night here, took Ava to a&e at 1.30am. Shes been having breathing episodes but they normally last 5 minutes but it went on for half an hour. Shes fine, her sats were all good so she was getting enough oxygen. They think its either of 2 things or a combination of both - reflux, or her large tongue combined with her weight causing some airway restriction. But they said they are not concer ex because she is handling it and her oxygen is good. But the paediatrician has to be informed

 

[kit10grl]

Sorry to hear that. Its so scary when its breathing issues isn't it. These kids sure do like to keep us on our toes. Hope you are feeling a bit better now.

 

[xx_danni_xx]

Just had chance to catch up with this thread
So sorry to hear that nearly, how is little Ava doing now? Can't imagine how scary that must of been! I'm glad there not worried and at least you got it checked out
Have you had any results back? Harry's a bit better but he's still got a bad tummy and he's a bit chesty I'm starting to think its down to teething though as I can see a couple cutting through. We was up from 12:30-3:30am last night! I hate teeth! Xx

 

[nearlythere38]

Thanks girls. Weve just come back from her opthamology appointment, and i feel none the wiser. He ssid the VEP test came back 'grossly normal', which shows that light is being received in the brain. Her optic nerves are definitely small. He suspects that she can see light and dark, and movement, but that she cant see any detail, such as my eyes, nose, mouth etc. He said he really needs the MRI results to assess further.

Then the dietician phoned me, after avas appointment last week she went to see her paediatrician to express her concerns and those of the speech and language therapist. He said he cannot understand why she has not had her MRI yet, and he is having a meeting with the x ray team today and will discuss it with them to get this done as soon as possible. He said he wont refer to endocrinology yet because "we really need to see whats going on in the brain first". He said he sees no point in bringing the genetics appointment forwards. And he also wants them to let him know if ava is struggling to swallow her feeds.

So a bit of a mixed bag really......good that she can see light and dark and movement, but i was hoping for a 'diagnosis' and still dont have one. And good that the paed is hurrying the mri, our dieitician said he knows that they are on his case now as well so that may help.

Sorry that Harrys not well hun. I hate teething too, my boys were awful teethers. Im having problems now with my 2 year old teething his second molars. Bloody teeth xx

 

[nearlythere38]

Hi ladies, how are we all and our lovely babies??

Well things have been interesting over here. Our speech and language therapist and occupational therapist came out to see us about getting avas positioning right for feeding. Shes ordered her some specialist equipment such as a bath seat and a floor positioner, and showed me what positions i need to be encouraging. However they also expressed concerns, about her weight gain, about her movements, about her tone and they queried fluid in her legs. So we were sent to the childrens ward and they kept her in.

They observed avas movements, particularly the hitting herself in the face. Its getting worse and worse, she literally repeatedly punches herself, it looks like spasms. They are still unsure what it is. They didnt feel that there was any fluid building up, but they were concerned over her weight gain. They finally ran some more blood tests, including her hormones. I dont think they are the detailed ones that an endocrinologist does but its a start. Were still waiting for the results, the thyroid was normal. They also sent some DNA off to genetics to check specifically for overgrowth syndromes such as Beckwith Wiedemann syndrome. They also queried glycerin storage diseases and prader willi syndrome so will be doing a metabolic screen on her urine.

They are also unsure about her hearing, they said she wasnt responding to audible cues unless loud, so have requested a hearing test again.

And...they also did an ultrasound of her kidneys as beckwith wiedemann syndrome can cause abnirmalities, luckily they were ok. They attempted an ultrasound through her fontanelle as well but couldnt do it because of all her hair and the fontanelle was small.

So i feel like some progress has been made, and she has definitely come to their attention now. So just waiting for test results now. The MRI is set for 24th October, theyve said that it is vital she has this and hopefully it will give answers xx

 

[kit10grl]

Its been a busy week here too. Robyn was admitted to Yorkhill for her ENT surgery last week and to have grommets fitted in the hope of helping her hearing. It all went well and she was discharged the following day. Everypne at home was very surprised by how well she did the following days. Then on Tuesday her breathing becam fast and laboured. we went to our local hospital who admitted her. She got worse throughput the day and when her heart got into the 180's they panicked and rushed her to high dependency. (she has had previous heart surgery).

She settled down overnight and was confirmed with rhinovirus. We were discharged today.

Sorry to hear u were admitted too, its rubbish isn't it. Its good that at least you are getting some progress with the testing,

 

[nearlythere38]

Great news that her grommets have been fitted. So do you think they are helping her hearing then? That must have been scary, especially knowing she had previous heart surgery. So glad shes ok. Thse cherky babies are putting us through our paces

Yeah it sort of gave them a kick up the backside to get some more testing done

 

[kit10grl]

It did seem to help the first few days but when she is sick she gets pretty unresponsive to anything as she feels so unwell so we will have to see. she has more hearing test in two weeks to get an accurate measurement then.

Yeh I was freaked out, her SATS machine usually alrams for her O2 levels and not her heart. It did it three times in a row so I grabbed the nurse and was like that's not normal she had surgery a few days ago get a doctor now please.

Have they talked about how they are going to do the MRI? does your lo still sleep a lot or are the going to sedate? I guess I was lucky in a way that when they did robyns MRI I was still in initial shock about all her surgeries and just nodded and went along with it without thinking when they said they were doing an MRI. She was sedated anyway due to her heart problems and being ventilated but if it was now I would be pretty scared for her to have it done again. Even for her surgery last week they only let me stay till the gas has put her to sleep, then they put her cannulas and vents in once they send me away. And even watching her go limp from the gas is awful.

At least we know they will never remember any of this stuff, its just us who will remember how scary it all was

 

[nearlythere38]

She does still sleep alot, but they tried to do it a while ago without sedation and she movd too much. This time its under general anaesthetic. Im dreading it but i know we cant get any further until shes had it. Shes also got a genetics appointment now, 21st november. Maybe we will soon have answers

 

[nearlythere38]

Wonder where danni is shes not written for a while. Hope everythings ok

 

[maisie78]

Hi hope you are all well. I know I haven't written really on this post but I have been having a tough time coming to terms with Gabriella's blindness and I guess avoiding talking too much about it.

Gabriella is now 13 months and is actually doing really well. We finally seem to be heading in the right direction with her support. We regularly see her paediatrician, physio therapist and I have a really supportive community nurse. We are having an OT assessment this week. Gabriella is not yet crawling and nowhere near standing but she is really coming on with rolling and is sitting completely unaided which I am so proud about sleeping has been an issue for a while now. She doesn't really nap in the day and has been waking numerous times in the night but fingers crossed she has slept right through the last 2 nights. I almost feel refreshed

Would be lively to hear how you and your lo's are all getting on xx

 

[nearlythere38]

Hi hun,

No worries, everyone deals with things differently. I like to talk about it as thats what helps me, but u do whatever u can to get through it. Im so glad to hear that Gabriella is doing well. Great that she is sitting and rolling do you feel that you are coming to terms with it a little more? How is she apart from her vision??

Ava is ok. Shes 6 months old this week, and huge, still gaining weight scarily fast. I think there has been some improvement in her vision, she will follow things a little now and actually look at a toy if i put it close enough but only briefly. She is smiling more now which is great. Her muscle tine still isnt great so theres no sitting upright or rolling over, or holding/reaching. She is also definitrly having seizures of some kind. I managed to video them and the doctors all agree thst she is, so have requested another EEG.

She has her first physio tomorrow, along with occupational therapy, and the health visitor. On thursday we have someone from the family fund visiting, and on friday she has a paediatrician appointment. We should have her MRI results back by the end of this week! Xx

 

[maisie78]

That is really good news about Ava's sight. I'm really pleased you are getting your smiles now Sorry to hear about the seizures but at least you are getting the EEG and I have heard really good things about the meds they can give these days. I speak to a lot of other IP Mums on a fb forum and quite a few children have epilepsy as a result of the condition. What many have found is that often their children have only had to take the meds for a limited time, around a year and then they were weaned off with no further seizures.

Apart from the blindness and the motor development delays Gabriella is actually really good. She obviously has her moments like all babies but on the whole she is a joy.

I think what I struggled coming to terms with was that this is now our reality. Gabriella wasn't born blind. IP, the condition she has, took the sight in her left eye by the time she was 3 months but then we went through lots of hospital visits and laser surgeries to try and save the right eye. Even the Consultant was confident that she wouldn't be fully blind and so it came as quite a shock that she did lose her sight. I think I kidded myself that I was fine and so just got on with it but then about 2 months ago it all just hit me. I'm getting better now though and talking to Danni regularly has really helped.

How are you finding things in general? Are you ok in yourself? xx

 

[nearlythere38]

Hiy

Sorry for the delay in replying. Weve been so busy its been madness. Well the good news is that Ava's MRI scan was 'grossly normal' so there are no mid brain abnormalities or brain damage etc. Which of course is great. But just means we still dont have a 'diagnosis'. There was something on the MRI that was suggestive of a metabolic disorder, and her recent urine metabolic screen was abnormal, they retested it and were still waiting for the results. Theyve started her on sodium valproate for the seizures, they seem to have reduced in number but they r still happening.
Weve has loads of appointments. And in wednesday we meet her visual impairment teacher for the first time, and then on thursday she has a sleep EEG and sees the speech and language therapist. then next week we have the all important genetics appointment and a hearing test. There are concerns over Ava's hearing, she doesnt always respond to sounds, and she doesnt make any noises or laugh which are apparently signs of a possible hearing impairment.

I dont feel too bad at the moment, i did go through a very bad few weeks where i felt totally overwhelmed by it all and very tearful. I think i feel a littlw better at the moment because there are so many things going in that i actually feel we are being proactive and its giving me something else to think about other than Ava's problems and worrying.

I am glad to hear that Gabriella is doing well. I can understand why that has been particularly hard. You had that hope there and it must have been heartbreaking to have that taken away. It also means that you havent had as long to come to terms with it than you would have done had it been there from the beginnint.

Does gabriella undergo any particular treatment and therapies? X

 

[nearlythere38]

I

With regards to the sweaty thing, have they ever discussed CHARGE syndrome or DiGeorge syndrome as a cause of your LO's issues? I only ask as we have discovered from parent the world over that we all have sweaty babies but its not considered a symptom as such just something that I common between them.
/QUOTE]

Hiya, how is Robyn doing??

Ava failed her hearing test last week so is to be referred to ENT and to be put to sleep for more detaildd hearing tests. And we finally had her genetics appointment today.....but i still dont really feel like we have answers. After a thorough examination and a full history the doctor said that she thinks that Ava has a syndrome, but she wasnt 100%, so wanted to spesk to her colleagues and check the literature before she will tell us what that syndrome is. She did say that its rare, and that there is usually a very characteristic EEG, which although Ava is now having seizures hers came back normal last time. She also said that she needs to check whether it is possible to have this syndrome without the H acronym......which has lead me to think CHARGE straight away. We now have a good 6 weeks or so to wait until we hear back from them with a possiblr diagnosis. She said thzt this syndrome they have not yet found the gene that is responsible for it so its a clinical diagnosis

 

[kit10grl]

I

With regards to the sweaty thing, have they ever discussed CHARGE syndrome or DiGeorge syndrome as a cause of your LO's issues? I only ask as we have discovered from parent the world over that we all have sweaty babies but its not considered a symptom as such just something that I common between them.
/QUOTE]

Hiya, how is Robyn doing??

Ava failed her hearing test last week so is to be referred to ENT and to be put to sleep for more detaildd hearing tests. And we finally had her genetics appointment today.....but i still dont really feel like we have answers. After a thorough examination and a full history the doctor said that she thinks that Ava has a syndrome, but she wasnt 100%, so wanted to spesk to her colleagues and check the literature before she will tell us what that syndrome is. She did say that its rare, and that there is usually a very characteristic EEG, which although Ava is now having seizures hers came back normal last time. She also said that she needs to check whether it is possible to have this syndrome without the H acronym......which has lead me to think CHARGE straight away. We now have a good 6 weeks or so to wait until we hear back from them with a possiblr diagnosis. She said thzt this syndrome they have not yet found the gene that is responsible for it so its a clinical diagnosis

Hiya, Robyn is fine thank you. Has been a busy wee while here for us. She her surgery and now that her grommets have been fitted she no longer needs her hearing aids. she has alos become much less congested since they removed some more bone from the back of her nasal passage and so she can breathe and feed much easier. She hasn't needed her Ng tube to feed for over a month now. She was developmentally assessed and came back as 7 months for gross motor skills and around 10 months for everything else so is doing pretty well with all that. Buther heart isntdoing so well. We have been told its looking likely she will need another heart operation in the new year. The next one wont be quite as high risk as the previous one but is obviously still a big worry.

Sorry to hear you need to do the GA hearing test that is a pain, we could never get good readings from that as robyn has such noisy breathing it only ever piced up her own noises. From what they have said it does sound like it could be CHARGE that they are thinking it is. The only thing against that is that there has now been a gene identified with it but it is only affected in 50% of cases and it has only recently been discovered so it is possible that your doctor just isn't aware of that yet. (Our doctor was insisting on calling it CHARGE association at first as he was insistent that it wasn't officially a syndrome until we showed him evidence that it had recently been changed since they had discovered the gene. The one that is affected is the CHD7 gene.)

do you hve a facebook page? there is a group on facebook for mums and they are veryhelpful and give great advice even if CHARGE hasn't been diagnosed yet. Search for 'parents of infant and toddler CHARGErs' they will be able to give you answers to a whole host of questions. x

 

[nearlythere38]

Great stuff that her grommets are helping with her hearing and that shes not getting as congested. And her development deems to be doing well which is fab. Sorry to hear thst shes to have another hesart operation. Thats must be very scary as a parent. In terms of all these health problems, were they all found staight away or did things start at different times? Does CHARGE have a characteristic EEG?

Ava is quite behind in her development, she doesnt roll, laugh, babble, hold objects, reach for objects, cant sit upright she just slumps, doesnt lift her legs up. She was recently provided with a sunbeam special needs chair and it depresses the hell out of me, i guess i am still struggking greatly with it all.

Obviously a geneticist knows better than me, but she doesnt have coloboma from what i hsve been told, she has small optic nerves. She doesnt have the problem with the nose, but the bridge of her nose is rather broad, you can see it on certain angles. As far as i know she doesnt have heart problems but shes never had any detailed heart tests, she has ******** development but not growth - she has a problem with overgrowth, as far as i know she has no genital/urinary abnormalities, and she doesnt have abnormal ears but possibly a hearing impairment.

Ive requested to join that group, thank you

 

[kit10grl]

A lot of robyns health prblems came up at different times. We discovered one of her heart problems at 20 weeks, then next one at 38 weeks scan. We discovered her choanal atresia at birth. These were obviously major helath issues so were the main focus. once her genetics tests came back they stated looking at other things like her hearing her eyes, her kidneys and her immune system. Each time they look at new systems I cringe worrying about what they will find not working next. its awful.

In mot scases CHARGE diagnosis is clinical there is a bit of a formula t it. The child can hve either our of the major characteristics or a combination of the major and minor characteristics. The heart is actually a minor one. And although coloboma is the most common eye issue there are a fw others which are often found. one eye can be smaller than the other or they can have a senstitivity to light. The fact that she isn't showing a lot of the major ones might be whats causing the holdup. I have a really good link from the CHARGE foundation that links to their 'handbook' that has great sections in it for parents and doctors to read. Its great cos it explains it eally well for doctors who rent faliar but then as an idiots guidet explain the same stuff in English for the rest of us.

It can be a bit scary to read at first though, I was eally terrified one I rist looked at worrying abou the future but if you want to hav a look let me know and I will find the link for you x

 

[nearlythere38]

That would be great thanks. I wish i wasnt so inquisitive because i dont want to conv7nce myself about this and then she says no actually its this.....

I cant find anything about charge and eeg's

 

[kit10grl]

Sorry I thought I had written in my last reply about the EEg. I don't know if there is a typical EEG no one has mentioned it to me but then as I said my doctors don't know a lot about the syndrome so it is possible there is and they just don't know it.

The link below is to the index page for the manual. I find it easier to read each section at a time but there is also a link to wthe whole manual in one file near the bottom but I end up lost trying toread it all in one file.

https://www.chargesyndrome.org/resources-manual.asp