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DVM Delayed visual maturation: any helpful advice?



  • Hi again,

    The test we have done are : MRI - clear, Evocated potentials - normal(but these are not saying anything regarding LCA).
    This diagnosis was first told by a specialist in pediatric neurology and confirmed by an ophtalmologist after an exam like you said(eye check up with illumination and she saw something at the retina, the retina is not reflecting the light like it should be).
    Both of these two doctors were sure about the diagnosis.
    We have to go for another exam to another eye doctor on 15th of july.
    After we have to look were we can have the ERG, because it seems that in Romania nobody is doing such exam for such a small baby.
    After this we want to do a DNA test to clarify which one is the wrong gene.
    Honestly after reading a lot, i believe that this is the real diagnosis. Also after observing our daughter for some time. She is not following any object, she seems to be completely blind. The eyes are moving but if you are staying in her front really close you can see that she is looking through you not to you.
    Also she has some delayed motor skils, like keeping her head is poor, hand are not coordinated at all . She is grabbing toys only if she feels the toy near her hand otherwise she is not looking at all at the toy.
    And all these after a period until 3 months old, when she was following with her eyes toys or us or movements arround.
  • That must of been extremely har to feel that her sight was deteriorating.
    Leo is exactly the same, he plays with toys if i give them to him. Does Maia follow light at all? Have you tried to get her to follow something in a dimmly lit room?
    The hard thing for me is that i keep have moments where i really believe Leo can follow objects, but when i go back to the doctor they say he cant follow anything. Its all very confusing but like i said earlier the beginning is the hardest time, with time you will know how to deal with it, and carry on. There are up and down days but for me i just have to look at Leo and I know how lucky i am. I believe God know's to send these special children to parents that will do the best job at raising wonderful independant children who will achieve everything they want to in life.
  • claudiuf

    I hope the messageboard is helping. It must be a very difficult time. We are lucky enough to live in London and went to a Moorfields clinic. The specialist said something interesting, that hearing rather than sight is the most important sense for development. Babies with no hearing struggle much more to develop in their first year.

    My grandmother was born in Romania, so I feel a little kinship (although my family is really Hungarian). If you have learnt English to a level where you can discuss complex medical conditions, then my guess would be that your daughter will have a lot of help and lots of inherited IQ. Good luck and stay strong.
  • Hello all,

    Thanks for all the nice words and support that you are giving to us.
    We have scheduled another ophtalmologist visit her in Romania on 15th this month.We need another opinion about the condition of our daughter. Until than we are hoping the LCA will be not confirmed(just a small hope). In the meantime i've contacted Moorfields hospital and they are asking as 1st step a translated copy for the diagnosis.
    Anyway, i have a question to Leo's mum. Did Leo lost his vision gradually?Because Maia seems to lost her vision gradually starting somwhere arround 4 months old.
    I do not understand if it si LCA, how is it possible during first 3-4 months of life to see a lot of thinghs(toys, us, she was watching at TV) and after a rapid detrioration of her vision until today when she is not following at all toys, people. About the light i'm not pretty sure. She is feeling the light because if i'm directing strong light to her eyes she has a reaction.Also the dosctors said that she is having some normal reactions to the light, and it seems that she can see something but intermittent.
  • Hi

    Im not sure about Leo's initial vision because when they're so young they're not really suppose to see so you don't notice it as much. We did think he could follow us around the room and also I thought he could stick his tounge out in reaction to me doing it. But who knows?? I doubt myself much more after all this.
    Im really glad you managed to get in touch with Moorfields, they really are the people to see.
  • Hi,

    When are you going to Moorfield?
  • Well im planning on getting to England in September and then i think there's about a 6 week waiting list for Prof Tony Moore.

    Waiting4baby, just wanted to say Good luck for today, I really really hope it goes well and you get some positive news. I hope they can answer all the questions you have. Thinking of you. Please let me know how it goes.
  • hello claudiuf im so sorry to hear about your daughter maia and that your wife is struggling to come to terms with it. it really is such a horrible time for all involved and i hope that in time you both grow in strength and find people around you who can give you the help and support you need.

    thank you, my zachariah is still undiagnosed, and if im honest im having a really hard time of it all lately, i just feel so unhappy not knowing whats going on. we've had the results of the mri scan and its come back normal which is great but the drs have said themselves theyre pretty stumped as to what is wrong now. we are now being booked in for an erg in 2 months time! (they think it will come back normal) and an appointment with a neurologist is being planned. i asked them whether dvm is now out the window as there's no progress and we're into 7mth now,theyve said that it's not ,and that there's no cut off time either, so God knows how long we'll be playing this waiting game. i just dont know what to do, i know i shouldnt give up hope as they've not told me to but at the same time i feel i have to deal with this someway and at the moment the only way is as if i have a blind son as how can i prepare a future for a seeing child if i dont know when/if that will be! sorry im babbling....
    Really hope everyone else is doing well and feel theyre progressing in this endless waiting game, my thoughts are with you all
  • Waiting4baby, that REALLY is good news, that the mri was normal. Dont worry too much, in time they WILL know what is wrong. Thak God, you won't have to deal with any other brain issues. I also know how difficult the waiting is and the not knowing. Its so annoying when the 'specialists' don't seem to know whats wrong.
    We have an appointment with the best retinal specialist in SA on the 23rd, so hopefully some more questions will be answered and she'll be some help.
    Hope all are well image
  • thank you, i know the mri is fantastic news but i really want to be in control of this situation but as you and everyone else on here knows we dont seem to have any control over these things whatsoever! anyway i've picked myself up and dusted myself off and i'm ready to face another day again. i think part of the problem is the hope dangled infront of us. i'm really pleased there is hope and at the same time i dont want to spend every day planning for tomorrow and wondering, 'will this be the day he will see!' if that makes sense, i just sort of want to get on with our lives and i know that we can, it's just there will always be (for the time being) that little niggle at the back of my mind if that makes sense! AAAArrrggh!

    i've been told that they know the eye looks normal, they know the brain looks normal, now for the erg to see if the bit inbetween is normal (and they think it will be) if it is normal they said they will probably refer me on as they dont have a clue, trust my boy to be one of those rare special cases of 'well this has never happened before!' haha! i think they are openly hoping it will just correct itself, so that makes about 30 of us!

    Good luck on the 23rd i really hope you manage to get some answers soon. if only our little ones could talk and tell us exactly what they can and cant see. i plough through so many different sites thruogh the week trying to come up with my own reason for 'why' but as of yet i've not struck gold. thinking of you, really hope you begin to feel youre getting somewhere soon, and also that the passport comes through quickly so you can start the next chapter. thoughts with you all, take care
  • Hello Everyone

    I have never posted anything before on any site but I have just spent the last hour reading this discussion. thank you all so much for what you have posted, I can identify with all the emotions you are going through.

    We are taking Reuben (who is not yet 3 months old) off for a electric response test tomorrow morning. Most of the time we are fairly chipper as we have bought everything the 'social baby' site sells and Reuben seems to follow the black and white books and even looks at the mobile. However he still does not follow a light at all and we were told at his first appointment about retinal damage. The doctor did look at his eye and say it all seemed normal but then started saying one possibly is the scan could detect damage ........

    We do not get the results for 3 weeks ! We are having the scan at one hospital (Leeds) and the eye team are based in another and it can take that long for results to be passed on. Cruel . However the eye team seem fantastic here, they are certainly responsive (ie return our phone calls) and we have already had a visit from the visually impaired team.

    I hadn't heard of Leben's before reading all this, hopfully that isn't what we are dealing with but his lack of response to light worries me.

    We won't be able to access the computer for a few days after tomorrow so don't think I'm rude if you don't hear back for a few days. It is just comforting to know there are others out there..... though I wish none of you were going through it all too.
  • hello reubensmum, i'm sorry to hear of yet another one dealing with the waiting game and hope that the erg comes back with some positive results. As you read the whole thread i know there is no need for me to explain about my zachariah, but i was just wondering... when you said he doesnt respond to light, is it all light? zachariah does not always respond himself, however if the sun is very bright he will squint (my family and i must sound terrible to passers by as one will say, 'oh look the suns getting to his eyes' and another will say 'good' lol)
    i find toys with light have had little effect but my mobile phone, or digicam screen do seem to get a reaction....sometimes.
    do they think the damage is in both eyes or will this be based on the test results? i really hope you do get some good news, i think we all know how hard this all is, despite each of us having slightly different problems we are all dealing with lack of sight, and it really is heart breaking.
    is he your first too? i dont know that it would make a difference to the emotions but personally i sometimes wish he had an older sibling for him to 'look after him' after a fashion, like an older brother or sister always wants to.

    i know you said there is retinal damage so quite how much this effects sight is probably unknown atm but i would think the fact he is following black and white objects (and at 3months) is a really good thing, zachariah doesn't follow anything yet and 7months+.

    no need to apologise for times in replying we all understand about commitments in the real world, feel free to rant/compare notes/or just chat anytime. like you said its nice (in a not so nice way) to find people who can know what you're going through and really relate to it. thinking of you both and hope you decide to come back and let us know how youre all doing, fingers crossed for you image

  • no need to apologise for times in replying we all understand about commitments in the real world, feel free to rant/compare notes/or just chat anytime. like you said its nice (in a not so nice way) to find people who can know what you're going through and really relate to it. thinking of you both and hope you decide to come back and let us know how youre all doing, fingers crossed for you image

    Hi there,

    So sorry to hear yet another family going through all this, and I really do hope the best for you.
    I know its not always easy to look on the bright side in this kind of situation, but as for Leber's, they are in the process of clinical trials for a cure, they have allready improved sight in adults and they think it will be even more effective the younger the patient, as the condition has not progressed. In the beginning i ws praying it wasn't that, but now i realise it could be a lot worse (neurological etc), and there is hope!
    I hope the ERG went ok, I know how hard it is to put our tiny baby's through all of these horrid procedures. Have you had the MRI yet?

    Thinking of you, and as Waiting4baby said, please join us in using this forum to rant and rave as much as you like.

    Hannah (Leo's Mummy):\)
  • Hello all, hope you're doing well.

    Had our appointment yesterday with the retina specialist, who finally gave us some positive feed back. She agreed with us that he could see light and could somewhat see the shiny xmas decoration we took in. She is quite sure it is LCA, and we have to have Leo's blood taken image to send for gene testing this week. We also had the genetic counselling which was one of the things in a long process we had to get done. I feel that we are moving forward and hopefully a step closer to getting to moorfields and hopefully the cure!
    Going on monday to test Leo's refraction , so he can have glasses if need be. Apparently far sightedness is very common in LCA.
    Anyways, just thought i'd give an update. How is everyone doing? Any news?

    Take care
  • oh that's fantastic news i'm so glad you are getting some progress and by the sounds of it good news too. i'm sorry i'd thought you werent seeing them til 23rd, so that's great you've seen them early.
    So, LCA is back in the picture now is it? i thought youd been told that as your erg wasnt the same that it couldn't be anymore? good luck with it all, hope it continues to be moving at a fast(ish) pace for you and you get some answers of some sort soon.

    We've yet to hear anything about the date for erg, but i can't say i'm suprised as everything seems to take forever over here.

    the vision aid teacher that comes to us thinks he is beginning to see things but when i queried it they said they cant be sure whether its clearly or shadows etc. i have to say i'm not convinced as they based it on him reaching out and he tends to do that all the time at the moment, also he was never looking at the object he grabbed so i'm sure its his other senses kicking in! i hope they're right but time will tell. As you can see i think i've lost hope atm, i just want to get on with life and what will be will be. i've not really enjoyed 2nd guessing every move and so trying not to do it for the time being as i feel it only makes everything harder.

    hope that everyone else is doing well and progressing positively.

    good luck with blood tests, i hope the results bring good news and dont take too long in coming and good luck for monday too

    [Modified by: waiting4baby on July 18, 2008 07:39 AM]

  • Thanks, yes it was more positive from this doc. At least I don't feel like i'm just loosing my mind!
    We're booked for another erg on the 22nd August, they think the test must have been inaccurate, and that it can only be LCA. I have to just hope and pray he is affected by the gene they are doing the trials on.

    Im really glad you also seem to be making progress, and im sure the vision person knows what they're talking about. Its also good (I suppose) to be realistic about everything, its best for you to be able to carry on with your life. You say he's reaching for things, so is he more intrested in toys etc now.
    Leo can definately see a very shiny xmas decoration we have and if i put my arm over his head he reaches for it straight away. Even if its shadows/movement/outlines its better than nothing at all.

    Take care
  • oh i totally agree, anything is better than nothing, its just when they say 'he can see' i just wanted to point out that in reality they dont actually know what he can see.

    He's not showing any more interest in toys, just if i am holding something in front of him he stretches out his hands looking for something to grab on to, and ram in his mouth (teething) lol

    i'm really glad that you are feeling more positive about everything and hope that the follow up erg brings some conclusive results for you. it must be great for you to know that he is at least seeing something, and they do say shiny things are the first things they are really drawn to so with any luck you will begin to notice even more things. have you tried cds? i was told to do a mobile of hanging cds as they will reflect and catch light. i am still pretty sure that with zachariah it is more to do with noise, but i guess all we can do is perservere! i heard from another mum who said her son didn't see until 18 months and now he is seeing perfectly!

    i had a letter through today for a physiotherapist appt! i've no idea why we've been sent that but assume it is something to do with how he tends to tilt his head to one side, noone even told me it would be happening so who knows.

    fingers crossed for you hope everytihng goes well for you.

    [Modified by: waiting4baby on July 19, 2008 06:26 PM]

  • Today is an 'up' day for me. We took Leo to have his refraction tested and he is far sighted (apparently very common in LCA)! So he needs glasses. Im soooo happy about this because they say it should really help him. We got him fitted with a lovely photochromic (he's extra sensitive to light)pair, and also some of those baby sunglasses with his prescription in. He looks adorable in them. imageimageimage
  • bless him, will it take a while for you to get the glasses, i bet you cant wait for him to have them and start noticing the difference in his sight. really hope they come through quickly for him (and you) i'm sure he looks adorable. it must be nice to find something that you KNOW will help him. Hope things continue to go up for you.

    im still waiting to hear about this physio appt, its really buggin me that i wasnt even told about it so feel really clueless about it all!
  • You should phone and ask them why you have the appointment. You have a right to know whatever you want. I'm sure whatever it is, its for his benefit. Any news on the ERG yet?
    Leo does look very cute in his new glasses. They said they're going to try and get them made by friday, which is great.

    [Modified by: Leo's Mummy on July 22, 2008 05:39 AM]

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