Hi everyone, William is six months old now. Just recently he has made a little bit of progress and has actually started to smile at people when they are close up to him (althought not consistently). Obviously we don't know how much or what exactly he can see but it is a major breakthrough and we just hope he continues to improve. We go back to the hospital on Nov 14th. Williams physical development is delayed. He doesn't lift his head much when he's on the floor, roll and is nowhere near to sitting up. He also doesn't put his feet down to stand, he just bends his legs.
I wondered if anyone elses baby is or was the same? Is it a symptom of or related to delayed sight? We took him to the doctors and he told us to come back in January for a check up. I would be so grateful if anyone could share their experiences relating to physical development. I am thinking of you all.
Leo was exactly the same. He's 9 months and only started to sit from 7 months. He rolled properly from 7-8 months and has literally started putting weight on his legs in the last couple of weeks (something I was concerned about but it came with time). I completely understand that it can be frustrating, but I do think its vision related as they just dont have the same motivation as sighted babies.
ahh, I'm so glad that you asked that question -- I was beginning to worry about that myself. Milo is only 3 months but really, really hates tummy time and I just can't get him to pick up his head. He also doesn't really push down on his legs when I hold him in a standing position which I guess they should start doing about now. He has learned to roll over from front to back by getting his little legs under him and pushing up until he turns over but apparently most sighted kids learn to roll by pushing up on their arms first. I'm glad to hear that other non-sighted kids are having similar issues.
Marieke, I am thinking about you and Kamil and keeping my fingers crossed for your MRI tomorrow. There was a cancellation and we ended up having Milo's last Thursday. He was a bit fussy beforehand but went right to sleep with the sedation and was fine for the procedure. We probably won't be able to get the official results from our neurologist for several weeks (arg!) but I have a med student friend who pulled in some favors and had a radiologist look at it. The good news is it seems that there is nothing glaringly major that is wrong which eased our minds a bit. But that was just a quick overview, and we won't really know details for awhile which is very frustrating. You are lucky that you already know when you will see your doctor!
Thinking of you all and hope all is well with your beautiful babies.
whe had the mri today. Kamil seems to be doing fine, no complications from the sedation, just a little sleepy. I wish we could get the results right away, but luckely, we "only" have to wait one week. Milosmom, what a relief it's done isn't! So glad to hear that it seems to be alright with him, but it must be terrible to have to wait for the final results so long.
Kamil is almost 7 months old now and he also seems to develop slow. He can sit with a little support, he can roll from tummy to back, not from back to tummy, he can keep his head up lying on his tummy (but not verry long) also his head is a little shaky when he sits. Most of the time he is laying on his back or sits on our lap. I think this really has to do with missing out on visual information (stimulation). I hope whe'll get help from visio (experts in blind and shortsighted people) soon to stimulate him with special exercises. I'll let you know soon as I know more.
Thanks for sharing experiences about physical development. We'll just have to encourage him to lift his head, roll and sit. I hope it will develop in time, I don't care if its late! I think I've made the mistake of thinking William can do more than he can. It's so inconsistent, I really thought he was responding to my face, but today, yesterday he hasn't responded at all. I will keep you posted. Glad MRI went ok for Kamil, glad you don't have to wait too long- a week is long enough. Fingers crossed everything is ok for you all.
Good news - I talked to our neurologist's office this morning and the results of the MRI were normal. We were so lucky that they got the results back so quickly and I am so relieved!!! Tonight we'll have a glass of champagne to celebrate just like CJK. Marieke I am sending good thoughts your way for the same result.
ahh I wouldn't discount that William may be responding. Just because he doesn't do it 2 days in a row does not mean that it is not happening. Sometimes it's 2 steps forward, 1 step back. I remember I was discouraged because Milo started to roll over from tummy to back but then wouldn't do it for about a week. But now every time he's on his tummy he rolls over. I think it takes their little systems awhile to process the things they learn.
Milosmum, that's wonderfull news!'What a relief! I am so nervous for tomorow when we'll get the results. I must force myself not to call the hospital and ask if they can tell me anything yet..... It's going to be long day....
Can anyone tell me more about early intervention for your lo's? Do you feel that it is usefull and when did you start with it?
Whe had the results from the mri today. Good news! There's no braindammage or active brainproblems found. The neurologist pointed out that it was good news, altough there where two things that where different then normal, first is that the bridge between the left and right brainhalf is thinner than normal and second is that the brainchambers at the back of his brain are slightly larger then normal. But this is of no further meaning and will have no consequenses. He showed us the pictures (wow!) and explained it very clear. He told us that everyone is different and that the results of an mri are so specific and detailed that there's always something that's deviating. But it doesn't have to be of any meaning. Fact is that Kamil has more abnormalities (hypospadia, mild dismorfs in his face) so there could be a flaw in his genes, a syndrome. He will have genetic testing done to sort that out.
But for now I'm so relieved!!!!! No serious brainproblems! pfffffffffffffff We'll see what the futher brings, I am a verry happy mother today!
Marieke - what a relief, I'm so happy to hear the great news!
So strange that all MRI are normal and that our children still don't seem to see. Such a mystery.
What's new here? No difference really, our son remains the same. Content but very passive and quiet. We feel that we really must get started with some kind of habilitation and learn more about how to help with social interaction, communication and his development of motorical skills etc. Luckily we have a meeting with the habilitation center on Nov 10. And on Nov 18 we will meet with the eye doctor and the neurologist and discuss the next step.
I wonder what genetical tests and chromosome tests can show? I've spent hours on the web searching for rare diseases with blindness but I haven't found anything that really fits. Luckily.
Take care all and keep celebrating all positive news with champagne
Marieke, that is great news -- congrats!! I hope that you can get more info from the genetic/chromosome tests. Keep us posted.
Today we had an appointment with our opthamologist and he basically said that there had been no change at all. Which was disappointing to hear but I kind of knew that already. The next step for us is to get the ERG -- but we may need to wait awhile as there doesn't seem to be anyone here that does them until the baby is 6 months. I find it shocking that in a city as big as New York that this is the case!! We may try to travel to Philadelphia or Boston to try and get one sooner but in the meantime it's just more waiting. Sigh. Something we've all gotten very used to...but so hard to do.
CJK -- I know what you mean about wanting to learn how to help your child grow to the best of his potential. We have something here called Early Intervention and we will be having Milo's evaluation next week. I'm very much hoping that they will be able to help me learn how to help Milo with exercises, etc. Because right now I'm just not sure what the best things to do to stimulate him are.
So strange that all MRI are normal and that our children still don't seem to see. Such a mystery.
I kept thinking that it had to be bad news sometime and that whe would be the one.....
I wonder what genetical tests and chromosome tests can show? I've spent hours on the web searching for rare diseases with blindness but I haven't found anything that really fits. Luckily.
So have I! Can't find anything too (I've also searched in combination with the hypospidias etc.)
[Modified by: motherof3 on October 30, 2008 05:18 PM]
Sorry I've been so scarce, but been a busy bee lately. Congratulations for all the good MRI news, its such a relief to know that your babies brains are all normal. I think with the brain, its such an important organ that hope could be lost for a cure or treatment if sometyhings was wrong, kwim?
For us, we got the results of the genetic test which kind of confirmed LCA. They found 2 LCA gene mutations, neither of them being the one they are doing the clinical trial on. I was very dissapointed that day, as i'd got my hopes up for the RPE65 gene. Oh well. As for Leo, he is doing SO well. Im so proud of him and I cant get over just how clever he really is. He still follows certain objects, light etc, but no face recognition at all as he always has.
My flight is booked for the 21st Novemeber to England so I can take him to Moorfields. Hopefully this will be helpful to meand maybe make it more clear exactly waht he can see. I would love to make a plan so we can all meet up somewhere, what do you think? Sometime in December? Please remind me where you all live so I can try and think of a meeting place.
hello everyone i am so glad to hear we have all had the mri results back and each have been consisting of good news, it's also great to hear how well they are all getting on. hannah good luck for moorfields, i'm sorry to hear it's not the 'right' gene but i am sure they will be of great help
well.... we have been very busy recently and so i've not had much chance to be on here, there isn't much news on zachariah atm to be honest although we are spending the next fortnight seeing a new opth somewhere else. the neurologist and the vista, so i am hoping somebody somewhere will have an 'eureka' moment very soon. Aside from the problems with his sight he's doing great and we're just beginning to prepare for his first birthday at the beginning of december which i am looking fwd to lots although goddness knows what i'll buy him as all he seems to do with everything is shove it in his mouth lol, and then of course Christmas.
Hanna, sorry too hear about the results of the genetic tests. But who knows what they can do in a few years? I admire your positive attitude! I would really like to meet with (all of) you, but I life in Holland so.... Who would like to vissit Amsterdam : ) Otherwise, it's not impossible to come to England. I was wondering if I should take Kamil to Moorfield too. Could someone tell me more about what they specificly do there (and can't do here).
went to another opth yesterday for the all important 2nd opinion and we're not much clearer unfortunately.
they've said it obviously isn't dvm type 1 as he's now 11months and that should have been cleared up by 6months it's not lebers because the erg was normal but it could be cerebal visual impairment based on the abnormal vep and it could be brain damage that hasn't shown up yet as babies brain is not fully developed so if he's still not sorted by 18months they would recommend doing another mri.
there has definitely been improvement with him as they said there is no question that he can see it's just he obviously can't see properly. he still looks mainly to the left and tilts his head but his eyes do now sometimes move to the right. they did however notice he never moves his eyes up or down just his whole head (something that i've never actually registered until it was pointed out to me) i am still a little concerned that his right eye looks like it sometimes drifts in but atm they say thats just an optical illusion based on his skin folds around the eye so we'll see. i also asked if it was possible for his sight to come and go as i sometimes feel he's fine and other days not, they said if it is brain related that that is definitely possible. so roll on the next 8months really!
we have the vision teacher coming tomorrow and i know they will be impressed with him as i think he is coming along brilliantly but we are in the medical words 'an odd case' as at the moment everything is normal so there is no reason for his abnormal sight! tsk! we've also got an appt with the neurologist later this month so am hoping they may shed some light on it all.
i think though it is becoming clearer to me that whatever is wrong with zachariah will not be discovered until he can sit down and tell us himself as he seems to be a bit of a mystery to everyone bless him.
i hope everyone else is doing well and wish you all the best of luck with all your appts and things that are going on right now.
Hello all, I'm back again here with some news. So Maia seems to have no problem with the hearing part, and also with the eyes it looks pretty fine now. BUT, it seems that she is having epilepsy, at least this is what the doctor told us today. We had to put her into the hospital 2 times in the last month because she had some seizures. So after this morning EEG, they saw something pathological on the result, and because she had 2 MRI tests, both clear, they decided that is epilepsy with unknown causes for the moment, we have to wait and see if something else will come. This diagnosis + those delayes in development that she has = not so good prognosis, means the brain is affected somehow and is not working properly. We have to wait.....:\?
Hi.Waiting4baby - I'm so sorry to hear that DVM no longer seems to be a possibility. I guess it will be the same for us. I had kind of ruled out CVI since it seems that most people with CVI have eyesight, but they have other problems with perception, color regonition etc. But apparently it seems possible to be completely blind as well, due to CVI.
Are you ok? How will you cope with this? Will you go and see a psychologist? I feel I would probably need to to that. Until now we have been hoping and we can't keep putting life on hold until our son begins to see.
Will the doctors be able to say for sure that it is CVI? Is there a way to find out?
And Claudiuf, I'm so sorry to to hear about your daughter. I just hope you will get all possible help so that she will feel well again poor thing.
Replies
William is six months old now. Just recently he has made a little bit of progress and has actually started to smile at people when they are close up to him (althought not consistently). Obviously we don't know how much or what exactly he can see but it is a major breakthrough and we just hope he continues to improve. We go back to the hospital on Nov 14th.
Williams physical development is delayed. He doesn't lift his head much when he's on the floor, roll and is nowhere near to sitting up. He also doesn't put his feet down to stand, he just bends his legs.
I wondered if anyone elses baby is or was the same? Is it a symptom of or related to delayed sight? We took him to the doctors and he told us to come back in January for a check up. I would be so grateful if anyone could share their experiences relating to physical development.
I am thinking of you all.
Leo was exactly the same. He's 9 months and only started to sit from 7 months. He rolled properly from 7-8 months and has literally started putting weight on his legs in the last couple of weeks (something I was concerned about but it came with time). I completely understand that it can be frustrating, but I do think its vision related as they just dont have the same motivation as sighted babies.
Hope you're all well
Marieke, I am thinking about you and Kamil and keeping my fingers crossed for your MRI tomorrow. There was a cancellation and we ended up having Milo's last Thursday. He was a bit fussy beforehand but went right to sleep with the sedation and was fine for the procedure. We probably won't be able to get the official results from our neurologist for several weeks (arg!) but I have a med student friend who pulled in some favors and had a radiologist look at it. The good news is it seems that there is nothing glaringly major that is wrong which eased our minds a bit. But that was just a quick overview, and we won't really know details for awhile which is very frustrating. You are lucky that you already know when you will see your doctor!
Thinking of you all and hope all is well with your beautiful babies.
whe had the mri today. Kamil seems to be doing fine, no complications from the sedation, just a little sleepy. I wish we could get the results right away, but luckely, we "only" have to wait one week. Milosmom, what a relief it's done isn't! So glad to hear that it seems to be alright with him, but it must be terrible to have to wait for the final results so long.
Kamil is almost 7 months old now and he also seems to develop slow. He can sit with a little support, he can roll from tummy to back, not from back to tummy, he can keep his head up lying on his tummy (but not verry long) also his head is a little shaky when he sits. Most of the time he is laying on his back or sits on our lap.
I think this really has to do with missing out on visual information (stimulation). I hope whe'll get help from visio (experts in blind and shortsighted people) soon to stimulate him with special exercises.
I'll let you know soon as I know more.
Take care!
Even the little steps are milestones for us right?
I hope he keeps developing like this.
marieke
[Modified by: motherof3 on October 22, 2008 08:47 AM]
I think I've made the mistake of thinking William can do more than he can. It's so inconsistent, I really thought he was responding to my face, but today, yesterday he hasn't responded at all.
I will keep you posted.
Glad MRI went ok for Kamil, glad you don't have to wait too long- a week is long enough. Fingers crossed everything is ok for you all.
[Modified by: ahh on October 22, 2008 06:05 PM]
ahh I wouldn't discount that William may be responding. Just because he doesn't do it 2 days in a row does not mean that it is not happening. Sometimes it's 2 steps forward, 1 step back. I remember I was discouraged because Milo started to roll over from tummy to back but then wouldn't do it for about a week. But now every time he's on his tummy he rolls over. I think it takes their little systems awhile to process the things they learn.
Thinking of you all...
Jodi
Its brilliant that the MRI was normal. You must be so relieved. Enjoy celebrating!
I am so nervous for tomorow when we'll get the results. I must force myself not to call the hospital and ask if they can tell me anything yet.....
It's going to be long day....
Can anyone tell me more about early intervention for your lo's? Do you feel that it is usefull and when did you start with it?
Keep you posted! Marieke
Whe had the results from the mri today. Good news! There's no braindammage or active brainproblems found. The neurologist pointed out that it was good news, altough there where two things that where different then normal, first is that the bridge between the left and right brainhalf is thinner than normal and second is that the brainchambers at the back of his brain are slightly larger then normal. But this is of no further meaning and will have no consequenses. He showed us the pictures (wow!) and explained it very clear. He told us that everyone is different and that the results of an mri are so specific and detailed that there's always something that's deviating. But it doesn't have to be of any meaning.
Fact is that Kamil has more abnormalities (hypospadia, mild dismorfs in his face) so there could be a flaw in his genes, a syndrome. He will have genetic testing done to sort that out.
But for now I'm so relieved!!!!! No serious brainproblems! pfffffffffffffff
We'll see what the futher brings, I am a verry happy mother today!
Love Marieke
So strange that all MRI
What's new here? No difference really, our son remains the same. Content but very passive and quiet. We feel that we really must get started with some kind of habilitation and learn more about how to help with social interaction, communication and his development of motorical skills etc. Luckily we have a meeting with the habilitation center on Nov 10. And on Nov 18 we will meet with the eye doctor and the neurologist and discuss the next step.
I wonder what genetical tests and chromosome tests can show? I've spent hours on the web searching for rare diseases with blindness but I haven't found anything that really fits. Luckily.
Take care all and keep celebrating all positive news with champagne
Today we had an appointment with our opthamologist and he basically said that there had been no change at all. Which was disappointing to hear but I kind of knew that already. The next step for us is to get the ERG -- but we may need to wait awhile as there doesn't seem to be anyone here that does them until the baby is 6 months. I find it shocking that in a city as big as New York that this is the case!! We may try to travel to Philadelphia or Boston to try and get one sooner but in the meantime it's just more waiting. Sigh. Something we've all gotten very used to...but so hard to do.
CJK -- I know what you mean about wanting to learn how to help your child grow to the best of his potential. We have something here called Early Intervention and we will be having Milo's evaluation next week. I'm very much hoping that they will be able to help me learn how to help Milo with exercises, etc. Because right now I'm just not sure what the best things to do to stimulate him are.
Thinking of you all...
Jodi
So strange that all MRI
I kept thinking that it had to be bad news sometime and that whe would be the one.....
I wonder what genetical tests and chromosome tests can show? I've spent hours on the web searching for rare diseases with blindness but I haven't found anything that really fits. Luckily.
So have I! Can't find anything too (I've also searched in combination with the hypospidias etc.)
[Modified by: motherof3 on October 30, 2008 05:18 PM]
Sorry I've been so scarce, but been a busy bee lately.
Congratulations for all the good MRI news, its such a relief to know that your babies brains are all normal. I think with the brain, its such an important organ that hope could be lost for a cure or treatment if sometyhings was wrong, kwim?
For us, we got the results of the genetic test which kind of confirmed LCA. They found 2 LCA gene mutations, neither of them being the one they are doing the clinical trial on. I was very dissapointed that day, as i'd got my hopes up for the RPE65 gene. Oh well.
As for Leo, he is doing SO well. Im so proud of him and I cant get over just how clever he really is. He still follows certain objects, light etc, but no face recognition at all as he always has.
My flight is booked for the 21st Novemeber to England so I can take him to Moorfields. Hopefully this will be helpful to meand maybe make it more clear exactly waht he can see.
I would love to make a plan so we can all meet up somewhere, what do you think? Sometime in December? Please remind me where you all live so I can try and think of a meeting place.
Anyways hope everyone is well
Hannah
well.... we have been very busy recently and so i've not had much chance to be on here, there isn't much news on zachariah atm to be honest although we are spending the next fortnight seeing a new opth somewhere else. the neurologist and the vista, so i am hoping somebody somewhere will have an 'eureka' moment very soon. Aside from the problems with his sight he's doing great and we're just beginning to prepare for his first birthday at the beginning of december which i am looking fwd to lots although goddness knows what i'll buy him as all he seems to do with everything is shove it in his mouth lol, and then of course Christmas.
hope you're all doing well and remaining positive
Hanna, sorry too hear about the results of the genetic tests. But who knows what they can do in a few years? I admire your positive attitude!
I would really like to meet with (all of) you, but I life in Holland so.... Who would like to vissit Amsterdam : )
Otherwise, it's not impossible to come to England. I was wondering if I should take Kamil to Moorfield too. Could someone tell me more about what they specificly do there (and can't do here).
marieke
Here's the website:
http://www.moorfields.nhs.uk/Home
they've said it obviously isn't dvm type 1 as he's now 11months and that should have been cleared up by 6months
it's not lebers because the erg was normal
but it could be cerebal visual impairment based on the abnormal vep and it could be brain damage that hasn't shown up yet as babies brain is not fully developed so if he's still not sorted by 18months they would recommend doing another mri.
there has definitely been improvement with him as they said there is no question that he can see it's just he obviously can't see properly.
he still looks mainly to the left and tilts his head but his eyes do now sometimes move to the right. they did however notice he never moves his eyes up or down just his whole head (something that i've never actually registered until it was pointed out to me) i am still a little concerned that his right eye looks like it sometimes drifts in but atm they say thats just an optical illusion based on his skin folds around the eye so we'll see.
i also asked if it was possible for his sight to come and go as i sometimes feel he's fine and other days not, they said if it is brain related that that is definitely possible. so roll on the next 8months really!
we have the vision teacher coming tomorrow and i know they will be impressed with him as i think he is coming along brilliantly but we are in the medical words 'an odd case' as at the moment everything is normal so there is no reason for his abnormal sight! tsk!
we've also got an appt with the neurologist later this month so am hoping they may shed some light on it all.
i think though it is becoming clearer to me that whatever is wrong with zachariah will not be discovered until he can sit down and tell us himself as he seems to be a bit of a mystery to everyone bless him.
i hope everyone else is doing well and wish you all the best of luck with all your appts and things that are going on right now.
I'm back again here with some news.
So Maia seems to have no problem with the hearing part, and also with the eyes it looks pretty fine now.
BUT, it seems that she is having epilepsy, at least this is what the doctor told us today. We had to put her into the hospital 2 times in the last month because she had some seizures. So after this morning EEG, they saw something pathological on the result, and because she had 2 MRI tests, both clear, they decided that is epilepsy with unknown causes for the moment, we have to wait and see if something else will come.
This diagnosis + those delayes in development that she has = not so good prognosis, means the brain is affected somehow and is not working properly.
We have to wait.....:\?
Are you ok? How will you cope with this? Will you go and see a psychologist? I feel I would probably need to to that. Until now we have been hoping and we can't keep putting life on hold until our son begins to see.
Will the doctors be able to say for sure that it is CVI? Is there a way to find out?
And Claudiuf, I'm so sorry to to hear about your daughter. I just hope you will get all possible help so that she will feel well again poor thing.
Hugs!