Toddlers & older children
Children with special needs
DVM Delayed visual maturation: any helpful advice?
Feb 22, 2009 2:16PM
So what a day!
The bad news is, that there is no miracle cure yet. But then we knew that, and still have lots of hope for the future.
Professor Moore was very nice and so knowledgeable. It was fab to talk to someone who REALLY knew his stuff. He says Leo's gene (CEP 290) probably wont be the next to trial, due to a couple of reasons. He did say the good thing about CEP 290 is that the retina and eye seems to stay 'normal' and in good health. He also said it is one of the most severe causes of LCA, but from what I know we got lucky and are at the top end of the spectrum with his sight.
They're not sure in how many years the trial will become 'treatment'. They're still waiting for permission to try it on children and with a bigger dose and hope to do that on RPE 65 kids towards the end of the year.
He did mention that there are a number of trials on different treatments such as the gene therapy, stem cell therapy and one other.
We were referred to the family support people who were great. She gave us all this info on local support and we will soon be getting a vision teacher.
While we were there we registered Leo as visually impaired, which was a hard moment as it was 'definate' you know? Apparent this will help us a lot with services and stuff so it is only beneficial.
Anyways it was a good experience and I would advise anyone in the same situation that Prof Moore is 'the man'. We have now been referred to a paed at Great Ormand Street who specialises in visually imapaired children. She will give him a good thourough check. We will also go back to Moorfields in 6 months.
Hannah and Gorgeous Leo
Feb 26, 2009 4:15PM
Still trying to catch up with this huge thread!! And know who is who extra-please bear with me!!
I have found this a great help and a real source of informations since Lillith's diagnosis-and I hope that all the beautiful babies are well!!
Leo's mummy, I love what you have said about being given the wonderful chance of looking after your little boy! You brought me to tears-I really understand how you feel.
Lillith continues to be the light of my life. I have 2 wonderful older children who have been a real help to me, and my little girl continues to come on in leaps and bounds.
She has become a mummy's girl and really panics when with new people. I am happy to be able to say that the hard work we do on a daily basis is starting to pay off and the distance Lillith can see is very obviously becoming greater. At the moment she appears to see about 20cms.
She is getting more bothered by lights and we have the most beautiful sunglasses-but will have proper glasses with reactalights at the age of 1. We will also have the 'vision test' at that point in Birmingham Hospital (I'm also in England).
I hope to catch up more soon-your right Leo's mummy we do have the best babies in the world!! Good luck and take care all-And thank you all so much for the support-truley insperational and wonderful women... you really have helped me imensly-thank you!!
(If anyone want's to add me on facebook I'm Lydia Bazeley-just let me know who you are when adding me!!)
Lydia and Lillith xx
Mar 4, 2009 4:27PM
A month ago we went to get the results from our son's second MRI. He did one at 8 months and one at 12 months. And there was bad news. There was not going to be any surgery. The MRI showed that our son's brain hadn't developed at all during the past 4 months, there had not been any myeline development since the first MRI. They now strongly suspect that our son has a neurometabolic disease.
No exact diagnosis however, and they will try to investigate more, although the doctors too seem to think that our son's case is a mystery. He doesn't fit in to the neurometabolic diseases that are documented. But of course new ones occur now and then.
Time will show if our son starts losing his ability to sit, hold his head up etc. In that case we know that it will not end well. But it could also be that he develops slowly slowly and will learn some things. He will always be blind though, and always delayed.
Liavt and Claudiuf - it seems our situations are a little tiny bit alike. I wish you all the best and really hope you get a diagnosis.
Mar 10, 2009 4:56PM
Here here, leo's mum 'blessed to raise this child' - beautiful and so true.
I'm glad you are getting so much help and info atm and hope it continues and that they're able to start on treatments soon. I think should no news be given to us at next appt in July I may well ask about moorfields, thanks. Take care
Tink: I am glad lilleth is bringing such joy and hope all goes well with the glasses etc, this thread certainly is long and I don't envy anyone trying to catch up from the beginning
loook after yourselves and may she thrive
Cjk: I am so sorry to read your news and can't begin to imagine what a time you must all be having at the moment. I am also sorry to hear he will always be blind and hope from the bottom of my heart that you find despite this your son manages to have a wonderful life, my thoughts and prayers are with you, take care x
Mar 20, 2009 12:27PM
CJK can you tell me a little bit how your son evolution was until now?
My Maia is pretty much the same. She is able to see something but we don't know how much. she is still missing the hand coordination.
She improved her muscle tone, and also the head stability is better but of course not normal.
The main part teh we are fighting with is the sitting. She still cannot sit by her own.
Otherwise she is very active, she is rolling over continously, she is grabbing toys or other things.
And another thing since she is on Depakine for seizures she had fewer seizures and no so strong like before.
I'm afraid that this part with sitting and the balance is linked with her sight problems..
Mar 23, 2009 5:55PM
It has been wonderful following your news, I have not been on this site since last August. I thought I woud post a message, hopefully not too late, to reassure minimix that if it is DVM then sight can return normally. Reuben is now 11 months and his eyes are working normally now and his long range vision is most definitely in ( he keeps staring at clocks). At 3 months he could not see a thing but by 4 months things were definitely on the move and there is nothing that would make you think there was ever anything wrong. He also managed to grow out of heart murmours that were picked up just as we were out of the woods with DVM, hence why it has taken so long to catch up with everyone.
you are all inspirational. Bless you all
Mar 25, 2009 8:27AM
Thanks Rubansmum for the advise. Interestingly he WAS now 'fixing and following' at 14 weeks old although not maintaining it long enough to be considered 'normal' but this is a huge improvement from previously however...we have now been told he is now not not meeting his other development milestones e.g lifting head, grasping out for toys etc. He has now been referred for 'tests' so we are waiting to find out the results of these before proceeding. Again it could just be that he is slightly 'delayed' or it could be major. Only time will tell I guess but at some stage in the next 6 months we will have to make a tough decision on what we do.:\(
Apr 23, 2009 8:54AM
Hi cjk and claudiuf I hope things are going well with you and you are having a lot of help from the specialists in helping your little ones
Reubens mum- what wonderful news I am so pleased for you all
Minimix- that sounds great he had started to fix, with any luck the other delays will be in synch with the delay of his vision. I do hope the tests come back with good news and that you and your family are doing well with yourselves and your decision
Not been on much recently as not much to report
Zachariah is doing really well but still not right ... We have a vista coming tomorrow who wants to start coming weekly, I've been putting this off as I feel what they can do for him I am capable of doing myself as I stay at home..... He's still very weary of new places and noises which makes it hard for me to get out and meet people. But he's just beautiful and definitely using whatever vision he does have to the best of his ability. Our next opth appt is in July where I'm expecting a follow up MRI to take place
Hope all is well with everyone, thinking of you all
Apr 27, 2009 4:55PM
I hope you and your families are all well!!
I thought it was time to say hello and 'check in' with you all!! My Little princess is 7 months next week and time has just flown!! At the beginning of April we finally got somewhere-after lots of kicking and screaming from me... we now have portage, Physio and O/t support for Lillith-I feel I can now relax a little!! For Now!!
Of course-now I've fought for this my little monkey has come on in leaps and bounds-in the last 2 weeks she has started rolling to the left and on to her tummy and she can now sit for a couple of minutes unaided!!
She appears to be 'seeing' further and is responding beautifully to voices-we are forever praising her for 'finding' us using her hearing and turning.... I do find it harder now though sometimes because I now notice the little things that show she cannot see the things she appears to.
She also appears to have find a point where her nystagmus is stiller and tilts her head in a cute way to see better!!
That's a bit about us!! I hope to hear some news from you all soon-thinking of you all and your beautiful babies!!
Lydia and Lillith xxxx
May 27, 2009 7:51AM
I wanted to let you know that our son is now 16 months and has learned new things. He rolls around now and has learned how to get up to sitting position and then back again etc. So he has not lost any skills and the doctors no longer suspect a neurometabolic disease.
However he is still a mystery and the doctors can't really say why he is blind. His development is slow, maybe because of his epilepsy but he is a happy boy in his own world.
Unfortunately communication is not working so well. He is happy in his world but he doesn't really show any interest in toys, our voices, games etc.
We are alright at the moment but it is hard to accept the fact that our boy is blind, in his own world completely and that he has epilepsy. But it helps to see a psychologist.
Take care all!
May 29, 2009 11:06PM
CJK, I am so very happy to hear that your son is doing well and that they no longer suspect a neurometabolic disease!! He may take a bit longer but it sounds like he is coming along -- he will do it at his pace, and truly the best thing is that he his happy. He has wonderful parents and I hope the communication issues start resolving themselves. I've read so much about visual impairments and the blindness can definitely impact that in many cases.
We are doing well here. Overall Milo has been a little slow on his gross motor skills but not too bad. I'm just so amazed and proud of how far he's gotten without sight. He's been sitting for months but in the past few days has figured out how to get from lying on his back into sitting -- he's so pleased with himself, and I have to say I'm so relieved as I thought he'd never do it because he really seemed to prefer being on his back or standing instead of sitting. He's also been pulling up and standing (holding on to us) for about a month now and loves walking around the house while we hold his hands. No real words yet but he's very sharp -- when you ask him "Milo, where is your head?" he will bang his little fist on his forehead, and can also point out his tummy, ears, mouth, toes, knees, hair and sometimes nose. We're also teaching him sign language and he has learned "eat" and "more." So hopefully that will help if he's slow with learning to talk.
So after all the rough times many months ago things are looking much better and we are so proud of our little boy.
Best to everyone!
Jun 9, 2009 6:33AM
Coming back with some news .
Maia is pretty much in the same condition. She is 17 months now but she is not sitting, she is not walking, she is not speaking.
The vision improved she can see for sure.
We just had another MRI which is clean.
The news is about VEP. Her recordings are showing a delay in transmitting the information from the eye to the brain.
It seems that for this part the myelin layer is responsible, and because she is late in development it seems that is a general problem not only for the vision.
We have to go further with the investigations for genetic or methabolic rare disorders, because it looks that nothing can be found with the usual investigations like MRI, blood, LRC etc.
Jun 17, 2009 4:56PM
Lilleth sounds like she's doing brilliantly, how wonderful for you, I totally understand about the moments of knowing it's not all right and zachariah also has a head tilt which to the rest of the works looks like an inquisitive profile shot
Cjk that wonderful they've rules out the neuronetabolic disease and I'm sorry the epilepsy and blindness continues, not knowing the cause is very frustrating. It sounds like he's coming on well though and I've also heard that visual impairment can effect the childs interest in socializing and effects they're learning for speech, so I really hope it turns out he is just delayed and will continue to do brilliantly. I am glad you have a pschologist to help talk through things, I don't know what is do without all of you
Milo sounds like he's doing wonderfully, and how clever to be able to point out body parts
Claudiuf I'm so sorry you are still no closer to finding miai's diagnosis and hope these tests help you all find a way to help your beautiful girl, I'm sorry her movements have not progressed but it is wonderful that she can at least see around her giving her some form of stimulation
I wish you all all the best.
Zachariah is still a mystery which is driving me crazy and I feel he is digressing slightly. We are seeing the opth and neurologist on 6 July so am hoping to get a few more tests and insight but not expecting too much.
He still has a very obvious head tilt for when he really wants to look at something and other times he grabs things without even looking for them. I have noticed one of his eyes has started to slide into the nose corner now so although it doesn't wobble there's something there. He still doesn't point and can't talk all he can do is shake his head for no or 'huh huh huh' for everything else, were being referred to a speech therapist, although I wasn't initially worried I am concerned that he doesn't make any other sounds or appear to want to speak. He is still very clingy, sleeps next to us and cries unconteollably in funny lighting or at funny noises. He still has a very limited understanding and doesn't seem to 'learn' things. I'm hoping it will turn out to all be eye related and he's just taking his sweet time but am finding it hard at the moment without a clear understanding of his condition.
We've started taking him to 'tumble tots' which is like a soft play activity hour and he's loving it despite his ltd vision, but the children are afraid of him as he wants to grab/feel them because he can't see them properly and that's just heart breaking. Do your children grab at other children? How do they interact with others?
Jul 8, 2009 7:10PM
Hi thought I'd do another quick update as just been to opth and neoro....... They still agree it's not right, noted the right eye turning inward and were shocked at how prominant his head tilt was as no nystagmus. We're now going more down neurologist route and having blood tests, urinary tests, another MRI in November, a developmental assessment and they've agreed after all this they will refer us to great ormonds hosp (they said would be better than moorfields as for children) ..... They've confirmed we're just looking for a diagnosis not a cure and say as they haven't got a name yet we're probably quite lucky that it's not too serious. Zachariah is doing well but not speaking/pointing/copying.... He doesn't socialise much with children as comes accross as rough to them, he had unturned foot we're waiting to hear about from physio and referred to speech therapist. He's just learnt how to dance which is the cutesy thing ever as he's always loved music.
Hope all going well with all of you, take care x
Jul 11, 2009 10:56AM
Wow, the length of this thread must be breaking some kind of record!
It sounds like everyone is coming along nicely, despite some lingering mysteries. I hope that answers come soon and offer some helpful solutions.
Also, I think we would all like to see video of this dancing that Zachariah has discovered!
Joe is doing well, now 13 months old. We had our first visit from a VI teacher (only 6 months after requesting one!) who was able to tell us more about what he can/can't see than any doctor has. His range is still not great (he loses you if you back up more than a few feet from his face) but he can see clearly enough within that small space to laugh when we make faces.
He didn't gain a SINGLE OUNCE between his 9-month and 12-month checkups, so now we have his growth to fret over too. It's a shame, because eating/sleeping were the things we thought he was really good at. Here's hoping the sleeping remains undisturbed!
Still way behind in gross and fine motor, but making strides in therapy. He does sit without help now, and suddenly seems interested in crawling -- though not very good at it.
You all are on our minds a lot. I hope you're enjoying your summers!
Oct 22, 2009 7:03PM
hello, gosh i don't know if people are still reading this or not but i will give an update on us anyway....
Well sad news to start, i was pregnant with baby number 2 but sadly she was stillborn at 20weeks, we named her Angel. its still early days and i'm struggling to come to terms with it but it has really hammered home how blessed we have been with Zachariah. She will be in our hearts forever.
Zachariah now 22mths is doing brilliantly with his vision and appears to be seeing everything although has ato work very hard to see and has an awkward head position. he also appears to not see when distressed or ill.
We are still waiting to find out what is wrong and seeing the opth, paed, vista, neuro etc for answers. he's actually due another mri in november which will either explain it all or hopefully rule out brain damage completely.they're going to do blood and urine tests at the same time.
we also have added to the list now a speech therapist as he is still yet to say ANYTHING althougb appears to understand a lot so quite a clever little cookie. they're wanting to start him up on some home visit scheme with them too so we'll see
a physio is on the list as he has an inturned left foot, which they said not to worry too much about until he's 3 BUT he also appears to have one leg longer than the other so thats being checked out too.
We've not put him into nursery yet but tha is the next step although still waiting to be assessed for the one on one help.
We just started him on tiny talk sign lanuguage and it looks like it will work brilliantly although due to recent life crapiness haven't been for a while but will try and get back into it soon for him as all he knows so far is 'milk' but it's been brilliant.
i hope that all of you and your little ones are doing well, i'd love to hear how you are all getting on now and pray that it is all good. thinking of you
Oct 24, 2009 10:21AM
oh waiting4baby i am so sorry to hear about angel! you and zachariah sound like you are doing really well, though, and i hope each day gets better and brighter.
all is good with us here in new york. as far as milo's vision we found that he can see lights, which isn't much but it's better than nothing. hopefully it will help him with mobility, etc. he has started walking!! well, right now it's just back and forth between my husband and i, or just very short distances but he is getting sturdier every day. i am so proud of him!! i thought it was going to take much, much longer because he's always been very cautious, but he seems to really enjoy the fun of trying to walk. we've also been getting some great services and i've learned that there is a toddler program here for blind kids when he turns 2. it will be great to have him be able to play with kids his age who are in the same boat. we really don't get the chance to play with other kids very much and i worry that he is not getting that experience.
we've been getting speech lessons for the past few months and i have to say milo's language seems to have taken off since then. he wasn't saying anything at all at around a year and in the past 3 months he's up to 10 or 15 words and new ones are coming every day. like zachariah he seems to understand what is said to him so hopefully he will just keep coming along. i really can't wait until he can talk and i can explain things to him.
anyway, i don't check in much over here anymore but great to hear how you are doing waiting4baby. i hope everyone else is also doing well -- this has been such a great forum.
Nov 1, 2009 2:29PM
Its been a long time since I've been on here. So sorry to read about your hard times Waiting4baby. Wish you all the strength in the world.
As for Leo he is doing great, he's amazingly clever, he can say in excess of 40 words! He's 21 months now. Still not walking, but he's getting there.
He goes to nursery 3 mornings a week at the moment as im at college. Loves it there. I was so worried initially but he's doing really well.
I am a bit panicky at the moment because we're waiting to get a second kidney scan, they found cysts the first time. Normally that is nothing to worry about but aparently with LCA it can be a sign of a condition called senior lokem syndrome which is very serious and life threatening, so im just praying its not that. He has no other signs.
Hope everyone is doing ok, and that your babes are all great xxx
Nov 6, 2009 6:03PM
Thank you both
milos mum, it sounds like he is doing brilliantly, how wonderful that he cam see lights and is starting to walk and talk. It's great there's a service when he hits 2, I'm sure he will come on leaps and bounds with others to follow. We also don't get much interaction with other children so I've joined up to a load of groups recently in the hope it will help. Fingers crossed milo continues to do brilliantly. X
leos mummy, how clever is Leo to know so much!!!! That's fantastic, can I ask at nursery does he get one on one support? We've been put on a waiting list for assessment for this service but I don't know if we'll be accepted.
I'm so sorry to hear about the cyst scare and hope that you get a scan date quickly to avoid any prolonged worrying and I pray that it will be nothing, and your amazing little boy continues to show off at how clever he is
I'm so glad people still pop in on here as it's lovely to hear how you're all doing and I've found this thread to be a great help and hope you have too.
we're getting into Christmas preparation now and I have my 'santa' hat on...... Zachariah is spoilt rotten because he's just too darn cute lol
Take care and good luck with all you're doing, you're all in my thoughts and prayers x
Nov 14, 2009 5:40PM
It's wonderful to have some news off everyone-I frequently check 'over here' and it's fantastic to get updates!!
Waiting4baby i am so sorry to hear about your loss, I know that you will forever have your Angel in your love and thoughts, I hope however that you are able in time to get to terms with your loss.
You and zachariah sound like you are making huge steps, and hopefully you will soon get some assesments and support from the services.
Milo's mum-sounds like your little man is doing really well-and it will be fantastic for him to meet some new friends when he gets to his new group!!
Leo's mummy-what wonderful news-I'm glad he's settled in well at nursery! I hope that they don't keep you waiting too long for your scan-please keep us updated on your news.
Lillith is continuing to be a joy to me-I have found this year very hard, This week I left my job as i took redundancy as I couldn't face fighting for my job. I have found a job in a local shop which is good-but already have had to miss a day due to sickness-damn bug's!! So that's worrying me!!
Lillith is 13mths now and says around 30 words, she crawls and cruises and is so cheeky!! She holds her head tilted down and to the left to still her nystagmus and will keep her new glasses on as long as we are not walking outside in the pushchair!!
She has been cleared from Portage which is great and once walking physio may discharge her too!! We have been going to a group called 'Vizzi Babes' since she was 16weeks-this is a group of visually impaired children-its a small group run by her VI teacher.
We had all the wonderful discarge/how well she is doing news on the 4th November-which was great-only 2 hours later we where told she may have a form of epilepsy which results in her having abscence seisures-so a bit of a bittersweet day.
We have a EEG on the 30th November and then her EDT's on the 4th December-both in the same week!! Poor monkey!
Anyway sorry for the waffle!! I think frequently of you all-take care everyone xxx
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