# Support for parents of children with visual impairments



## nearlythere38

Hello :flower:

This is a group for parents/carers of children with visual impairments, where we can discuss issues affecting our children and get support from others going through similar experiences. 

_Our members - _

Nearlythere38  - mum to 2 boys and a baby girl - Ava, now aged 19 weeks, who was diagnosed with optic nerve hypoplasia at 13 weeks, and possible CVI (cortical visual impairment). Currently undergoing further testing to identify possible brain abnormalities and/or genetic syndromes.

xx_danni_xx - Mum to Harry aged 11 months diagnosed with optic nerve hypoplasia and nystagmus at 3 months old, registered blind at 13 weeks old, still under going hormone testing. Doesnt seem to be any further problems so far!


If you would like an introduction on this post please send it to me xx


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## xx_danni_xx

Hi il reply to you in here rather then on the other thread. I know what you mean about frustrating, I'm still waiting for the visually impaired team to be in touch not heard a thing and they should of been round last week at the latest! Sick of waiting plus not heard from the ophthalmologist when my paed put in an urgent referral and still waiting for genetics appointment and occupational therapy lol everything is just one big waiting game! Can't believe Harry is 1 next month and I'm still waiting for answers! 
How is Ava getting on with the baby rice? Still enjoying it? Xx


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## nearlythere38

God thats so bad, almost 9 months for you. Do they not have any compassion for us parents having to wait. Ive only been waiting 6 weeks and its been the worst 6 weeks ever, so cant imagine how u feel. To them its not urgent, but it is to us. 

Stopped with the baby rice now, started with porridge on an evening and now pureed carrot and potato at lunchtime. Shes loving the porridge, not so much the carrot and potato. Tends to gip and cry lol. The dietician phoned this afternoon and wants to see ava next thursday. She said she has been advised of avas weight gain and wants to discuss low calorie weaning.......pissed me right off. Why should she be effectively put on a diet when shes not overeating. GRRRRRRRRR


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## maisie78

That just seems ridiculous that they are referring you to a dietician before they're testing for growth hormone issues when it is known to be a problem with this condition. If you are certain that Ava is not overeating then refuse to see the dietician until they have run tests. You certainly don't want to risk underfeeding her.


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## nearlythere38

Shes been under a dietician since 3 weeks of age when she was diagnosed with cows milk intolerance, and it was always the plan that she woukd be seen mid september to discuss weaning, but now she specifically wants to discuss foods which will fill her up but not add to the weight gain. Im still not happy about it, but i have asked my GP and the paediatrician to do hormone testing and they both said not until the MRI results are in. I just cant understand it, knowing the waiting times the referral to endocrinologist will take agds anyway so why not make the referral!!???? When she sees the dietician next thursday she will be weighed, so i plan to ask again because no doubt it will have increased again (already has by my scales, from 8.4kg on friday to 9kg today)

She had her EEG this morning, they stuck 15 electrodes to her head and i just had to hold her for 15 minutes. She didnt particularly like it but she did well. The lady doing it said the results normally get back within a week, but she said Avas consultant has already chased it up on monday and wants the resukts sending to him ASAP so hopefully if there is anything i will know within a week. Im still not convinced that shes having seizures but we shall see


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## Ivywal

That is rubbish that they want you to put Ava on a diet. Maggie is also really large for her length but I am assuming that when she is actually crawling that this will normalise. I have come to understand that in health people like to be the one who solves the problem/saves you and that could be what is motivating the dietician. 

We have seen the opthamologist and will get the dates for another surgery to correct Maggies squint soon. Her eye is so rolled back that she cant even see out of it so I hope this will give some improvement. I am looking forward to finding out if she does have some vision in that eye, every little bit helps.


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## xx_danni_xx

Hi sorry not had time to reply we just got back off holiday today and iv had no Internet. I agree with the others about it being a load of rubbish she's been referred to the dietician! They need to check her for other hormone problems before putting a 4 month old baby on a diet! 
Have you had the results back yet from either the MRI or EEG? X


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## nearlythere38

Aww ivywal i really hope that the operation will help. 

Hope you had a good holiday danni.

The eeg came back normal so thats good news. Still no MRI date but ive been told its now in the hands of a senior neurophysiologist at leeds and will be done within the next 2 weeks. Her opthamologust appointment is next monday and i am really hoping to be given a bit more of a diagnosis now that he has her VEP results. Ive requested her birth notes so will be going over everything that happened at birth, im now convinced this was caused by a birth incident. We did have some bittersweet news that ava has qualified for disability living allowance due to her significant reflux and intolerances. Im getting a copy of the doctors medical report today which the DLA used for assessing her so i can find out exactly what was included.

Im so ill right now, full of cold and sore throat etc. And Ava has got it too, shes not happy bless her. Had so little sleep last night, and i really dont feel that i am coping very well at the moment. I had a total breakdown to the paediatricians secretary this morning. I feel like ive hit a breaking point where its all hitting me like a ton of bricks :cry:


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## xx_danni_xx

Really sorry to hear your not well hun and things are getting on top of you :( its understandable with everything your going through plus dealing with 2 other children it's going to get to you. I think we've all been were you are now and it's not nice but just try to remember that things will get better and it won't always be like this. Everyone has bad days I'm sure the fact your both ill isn't helping things at all

That's good your hopefully going to get some answers soon! Be sure to let us know how you get on :) Iv finally got Harry's appointment with the ophthalmologist through at the end of October so I'm requesting a VEp test to be done. Then he sees the endocrinologist two days later so I'm hoping for more answers at the end of this month! We've got occupational therapy coming tomorrow as well,I'm quite surprised as we was warned it could be up to a year wait and it's only been a month! I think there quite concerned over his arm and left side,iv been saying for months it's not right and I want more tests but no ones listened to me so I'm just glad there taking it seriously now! 

That's good about Ava's DLA I know it doesn't change anything but the extra money is a great help we qualified about 3 months back when Harry was officially diagnosed and it's been a good help. You can also apply to the family fund hun just google it and they give out grants it takes a while to process we just got the news we've been awarded money towards a new living room floor and sensory toys for harry which he'll absolutely love :) there's lots of different organisations out there that help, I know we'd all rather not have our babies disabled but at least there's that extra help just to ease things a little. 

I hope your both feeling better soon xxx


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## nearlythere38

Thank you. Im just so up and down, and the down days are very low. Its good to know that things will get better. Youre all doing so well. I hope we can too.

I hope you get some more answers too. Whats happening with his arm and side? Weve been waiting for physio and OT for 10 weeks now....up to a year?!?! Thats ridiculous. Remind me why we pay taxes!?!

Which rate of DLA does harry qualify for if u dont mind me asking? Its just that avas got the middle rate, but that is only taking her reflux and low tone into account. I need to tell them about all the other problems and dont know whether it will make a difference or not. 

Yeah someone mentioned the family fund. Thats great that theyve granted that for you. Did you apply straight away? We need a new fridge desperately, and i would love to get her some sensory stuff (although she doesnt hold toys or look at them really)


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## xx_danni_xx

Hopefully your wait won't be much longer! His left arm is really stiff and he doesn't use it he kind of holds it in either a fist or claw and when he's forced to use it he cries and you can see its a struggle and his left foot he holds it inwards and doesn't use it as much. It's been like this since birth and a few doctors have mentioned it could be the result of a stroke at either birth or in utero but yet none of them will test it! They just keep saying they'll see how it grows but he's getting older now and it's getting worse be holds it facing the wrong way and twisted and he's now got a crease between his elbow and wrist :( I told all this to his physiotherapist last week and told her how worried I am and I think that's why OT have been in touch so quick so hopefully they'll give us some answers tomorrow!

We get middle rate for Harry but I honestly think it depends on the area and who looks at your form! We're going to try for higher rate in a couple of weeks cos as he's getting older he needs more care and I literally can't leave him for a second,he can't feed himself he doesn't sleep properly etc. if I was you id re apply with all the other conditions and see what comes back. See what the VEP results are like and if she gets registered blind then that shops go in your favour as well. The specialist health visitor filled mine in and she was really good at wording things. 

Yes I applied before we even got DLA for Harry and I know one of the main things they pay out for us fridges and electrical equipment. It's definitely worth doing hun. The sensory toys are really good there's so many to choose from its on a website called learning space if you want to have a look. Even if she's not that interested now in a few months she might be. We've just got Harry things that are noisy or light up and things with funny textures. There really helpful and suggest things for the child's disibility that they will get the most from. 
Is Ava any better today? I think Harry's coming down with a cold,it's this weather that can't make it's mind up that causes it! Xx


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## nearlythere38

Yeah i have come across stuff about in utero strokes, and im sure ive read somewhere about a link with ONH. Its such a minefield. Did the physio say anything about it? His mri was normal wasnt it? I really hope avas mri is normal, but in a way i dont because it would at least give me answers for the way she is....if it comes back normal, i just dont know what to think.

Yeah im going to wait til next week and see what the opyhamologist has got to see. I need to know whether its ONH or CVI with ONH. And i need to know what he thinks she can see. I guess gettig a certificate of visual impairment helps in terms of getting support. Whether it will make a difference to the DLA i dont know but its not going to reduce it so theres nothing to lose really.

Shes still got a snotty nose, but shes just generally unsettled. If shes awake shes crying. Shes being more sick than ever before. Everythings always covered in sick


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## nearlythere38

Ill have a look at those sensory toys thanks. How long did the family fund application take and what was the process? My dad is making ava a little room, have u seen them? Im collecting stuff for it x


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## kit10grl

Hi. Can I introduce myself here too. My DD Robyn is 12 and a half months now. She was diagnosed with colobomas in both eyes. The left one is quite large and the right is very small. They are unsure as yet how exactly they are affecting her vision. They are quite common as part of her genetic condition. 

We have spoken to a few other parents in the same boat and quite a common description is that where the colobomas are placed could result in her vision being limited as if she was wearing a baseball cap quite low and cutting her vision field off there. So she is prone to throwing herself backwards so she can see more of the world by using the lower part of her vision field rather than the upper part which most people use. She tracks and follows and will reach and grab for things accurately so we are pretty sure she can see well but obviously its not like we can ask her. Her syndrome is very much a spectrum condition in some cases people are completely blind with no chance of any improvement but others can be complelty unaffected so its very hard to get an idea of her potential yet.

I was reading through the thread and obviously don't know much about your situations yet but wanted to say we have had a dietician for DD since she was very young even though growth hormone deficiency is a common part of her syndrome too. The reason they did it this way is because medically the first years growth is directly related to nutrition rather than other things. There is only a very short window in the first year between 8 weeks and six months for a girl) After six months to a year they can only get baselines. They cant actually assess how the growth hormones will develop until after a year.


We just had these blood tests taken literally two days ago to assess DD for growth hormone deficiency. I know its very worrying as we are so concerned we are going to be late in getting her the help she needs on everything as her syndrome is so complex. The info provided by the foundation for her syndrome for basic 'at home' testing is that if there is a growth deficiency or failure to thrive in the first year then consider weight in comparison to length. If failure to thrive is down to illness or lack of nutrition then the child is usually short and underweight. If it is due to growth hormone deficiency then the child can be overweight for their height. In our case DD is on the centile for weight but 2nd centile for length so while she isn't overweight compared to her height she isn't in proportion. They are testing now to determine whether its due to the extra calories we have been putting into her with the dietician or if its a growth hormone issue.

Not sure if this is helpful just thought it might explain a little why they are holding off doing the tests and giving you a dietician first.


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## nearlythere38

Hello! Thank you so much for your reply. what gorgeous kiddied you have! Just been reading about charge syndrome. Sounds like youre dealing with a hell of a lot. Thryve discussed possible syndromes with us and i think the uncertainty is so hard to deal with. But even with a diagnosis that uncertainty still doesnt go really does it. What exactly is a coloboma?

Well Ava is only on the 9th centile for length, and now 99th for weight so very out of proportion. She had a dietician appointment this morning, and the speech and language therapist came i while we were there. Shes gone through avas calorie intake and shes definitely not taking too much. But we have gone through some weaning plans etc. She wants me to try cup feeding with some thickened liquids (sugar free jelly for examlle but not set). But as she has gained weight again she said she is going to speak to her paediatrician about speeding up all these tests and about her being referred to endocrinology. Not sure what he will say though because before he said he wanted to wait for her mri. 

The speech n language therpist also said to me that the few times shes seen ava she seems to get quite clammy and asked me if shes always like that. She does get sort of sweaty, especially on her head she often looks shiny and her hair gets oily.......she didnt say what thag could mean....anyone know??


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## xx_danni_xx

Hi sorry it's been a while Harry's come down with a bad cold and sickness bug, it must be going around, how's Ava and yourself feeling? Any better? 
With the family fund I just rang the number n they sent me a form out and it took about 4 month to process so it's definitely worth doing now!
Do you mean he's building her a sensory room? We've made our spare room into a play/sensory room for Harry we bought him one of them big bubble lamps and he loves it cos it's so noisy definetly worth getting one if your after ideas :) there about £1000+ for the proper sensory ones but we got ours of eBay brand new for £30!! It's obviously not as big as the proper ones but definetly worth it :)

Harry's MRI came back ok but his pituarity gland was small and there was a few other problems with that gland but after blood tests etc they can't find what it is so they think it's just maybe smaller then usual and that's it! They'll keep testing as he grows though. 

Have you been back to see the ophthalmologist yet? Have you had any results back? 
Our physio referred him to the OT as a top priority So she came out yesterday and examined him and they think it's between him elbow n wrist that turning motion he can't do it so they've give us some exercises to do with him and he'll be having weekly OT appointments along with his physio so that's good there finally doing something!

Kit10grl- Hi and welcome :) your lil girl And boy look so cute in your avatar! That's good about you thinking robyn has some vision, Harry throws his head back like that as well but it's usually when we're outside and I think it's cos of the brightness of the sky he loves it :) so do they think that her vision could improve? Is there any cure/surgeries to correct it? Iv never heard of a coloboma before so sorry for all the questions! How is she development wise with things? Harry's just getting the hang of sitting but I still daren't take the cushion away lol and he can roll on his frOnt but hasn't worked out how to get back yet! He's 11 month old now and it sounds a bit silly that I'm so proud of him for rolling on his tummy when most other babies are now cruising or crawling lol 
How has your son found it or is he too young to understand yet? Xx


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## xx_danni_xx

Nearly-we must of both been replying at the same time! Just to answer your question, no iv never heard of that? I don't know what difference it would even make? Did she not say why she was asking you that? Harry's quite a warm baby anyway but he's been wearing a helmet for the past 6 months for his plagiocephaly so he tends to sweat a lot wearing that but no one has ever asked me if he gets clammy etc. a bit strange?! How come Ava is seeing a speech therapist so young? We've been told Harry may need one when he's older due to his visiOn but they'll see how he gets on x


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## nearlythere38

Aww sorry to hear that Harrys not well. Sickness bug at the same time as well poor thing. Avas cutting her bottom front teeth so i think the cold and cough could be related. Great that the OT and physio are getting on top of things. It sounds like they should be able to do something about it early enougb.

The little room thing is something which they use for children with cvi. Its like a sensory room in a box. One side is cut out and you lay the baby in it. And inside u put lights up, hang sensory objects and put thi vs on the walls. The theory behind it is that babys with cvi (not sure if applies to all VI babies)struggle to make sense of everything they can see and all the background images get all blurred into whatever they try to look at. By using a box you block out all of that so they can just concentrate on the stuff in the box. And start to learn that if they move their hand right they touch something noisy, if they move it up they touch something fluffy. Im collecting things at the mo.

She sees a speech and language therapist because of her protruding tongue and high arch palate. They look at how she feeds, for example she doesnt latch onto a bottle properly as her tongue sticks out. She hasnt really done anything yet to be fair except assess her but shes very helpful and she made the referral to physio and OT for me. We will need her as she gets older for her talking as obviously the tongue is important for that.


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## kit10grl

I hadn't heard of a coloboma either before DD but I bet you have seen one without realising. The picture they used of madeline McCann to how the defect in her eye is actually a coloboma. There are two types, an iris coloboma like Madeline has and a retinal coloboma like DD has. These cant be seen by the naked eye from outside but they tend to affect vision more than the iris coloboma does. They are caused when the eye develops in utero, it begins to grow like a U shape until the eye forms all the way round into an O shape. A coloboma forms when the gap doesn't close correctly. It can get progressively worse in a retinal coloboma as it can cause retinal detachment in some cases which would cause complete blindness. As far as I know they cant fix it but the vision can be improved with glasses and lenses formed specially and also be developing a 'communication bubble' to ensure that if there are patches in the vision field that cant be seen people working with the child are aware of where these are and make sure they can be seen.

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.

Robyns development is a funny thing. Her gross motor skills are pretty far behind. She was able to hold her head steady at 6 months, She started rolling around 10 months and now can almost sit up. She had a lot of feeding issues from birth du to an issue with her nose called choanal atresia that means the bone in her nose didn't have holes in it essentially so she couldn't breathe through it. She had to have an operation where the holes were drilled in by a surgeon. She was tube fed for most of her first year so we also see SALT and have from birth. They were pretty unhelpful to be honest. We got fed up and took things into our own hands and worked very hard getting her off tube feeding and onto bottles of milk and then onto pureed food. She can now manage most stage three baby foods but struggles with harder chunks. She has quite a high palette too. Our audiology doctor has asked that her ENT surgeon reassess her palette for clefts when she is in for her next surgery (next week). So we are hoping there isn't a problem there but it would explain why feeding was so hard


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## nearlythere38

Ah ok yeah i understand now. My husband had a detached retina, it had been caused by a rugby injury but didnt become apparent until a year later when his vision was getting blurrier. Went to opticians thinking he was short sighted but his retina was half way detached. He had an operation where they reattached it with a buckle. Hes always at extra risk of it detaching again but there are warnings signs and he gets opthamology exams every 6 months to check it. So hopefully by monitoring Robyn well they should be able to stop any possible detachment.

No they havent mentioned either of those. Ive had a look and she has a couple of the signs but im quickly learning that ava seems to have a lot of signs which could be attributed to a lot of thingd. Dr google suggests it could be hormone related or blood sugar related so maybe thats what they were thinking

It sounds like you are doing a great job for robyn and fighting her corner so to speak. Thats another thing im learning, that i have to be avas advocate and push for things because waiting for them to happen just does work!!


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## 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


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## 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. :hugs:


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## 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


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## 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


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## 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


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## 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,


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## 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


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## 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


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## 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


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## nearlythere38

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


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## 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 :haha:

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


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## 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


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## 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


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## 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


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## nearlythere38

kit10grl said:


> 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


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## kit10grl

nearlythere38 said:


> kit10grl said:
> 
> 
> 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. xClick to expand...


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## 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


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## 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


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## 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


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## 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


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## kit10grl

have they accepted your request yet? sometimes they are slow to add people because there was a privacy issue a while back


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## nearlythere38

No they havent yet


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