For anyone who is still reading we had the Visual Evoke Potential test and it has revealed DD has albinism. Too much information is passing over in the chiasm.
We've been referred to a geneticist and have further ophthalmology appointments.
I'm relieved to have a diagnosis.
Hi, I still get notified when a reply is made on this thread.
I'm glad you got a diagnosis so quickly, whereabouts are you? If that were us, we would not even be getting the VEP test etc til she was over 1! it must be a relief to finally know what it is. when we were trying to look at all possible options of what our daughter could have, albinism came up but I dismissed it straight away as my godmother has this and has certain distinctive characteristics so I just assumed our daughter could not have it.
I hope that you are offered the support and information that you need. do you know what this means for your daughter and her eyesight or is it an only time will tell situation?
If you do ever want to chat to someone outside of the situation then I'm always happy to talk; after going thru what we went thru I would like to support others as muich as I can as I felt so lost and alone, just me and hubby, when we were going thru the DVM, as tho friends and family were lovely, I was always aware that they went back to their normal lives but we were stuck in the most upsetting and uncertain situation.
Sending positive thoughts xxx
Yes DVM is such an uncertainty and I've felt quite lost with worry. with regards to her eyesight it will be a wait and see.
We're in Fife so i think the smaller population but close proximity to Edinburgh:Glasgow means we've got quite good access to services. I also think we've been lucky as our current consultant seems to be at the top of his game and DVM is one of his specialist interests. He's written a lot of papers and info sheets on it. He's our 2nd doc as by chance he covered our original ophthalmologist's absence in clinic then he asked we would swap to him.
Because our DD is fair but not especially so the consultant had started to think it was a retina disorder.
We've been referred to see a geneticist too. I can't fault the service we've received so far from the NHS.
Wow your treatment does sound fab....ours was not like that at all!!!!
I know that albinism has extremely varying degrees and effects in eyesight vary greatly so I do hope that your LO has the most positive results possible.
I remember when our little lady couldn't see and we were waiting to see if it was DVM (I felt doubtful after reading up on it...it didn't even have a wiki page!!) I used to wakre up every morning and my first thought was; my baby can't see and I'd feel distraught all over again but of course you have a baby and you have to get on with things. It is so hard.
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.
That's fab to hear about Leo! How is his vision, etc now? Sounds like he is doing great!
Your posts were such a comfort to me a few months back x
hi frind ! my daughter diagnos by delay visual maturation in 7 week . her doctor told me retina and cornea in fine and ERg and VEp at 5 month is normal . . she is fix and folow things from 3 .5 month . but not attention faces . she is 7 month now but no attention to face . she is not make any sound but she has big smile . i am woreied by autism or .. .
Hello everyone , my son is diagnosed with delayed visual maturation and I am freaking out as I'm worried it might be more or a different condition . I'm desperate to talk to anyone who is going through the same thing. Please let me know if any one is reading this
Hello, I still get notifications for this thread as do a few others I think.
I was in your position in July/August. I was desperately worried but really worrying doesn't help anything. However it is unavoidable, and only time will tell. Hopefully it is just DVM.
In our case it was something more. If you've read further up my daughter was diagnosed as having albinism so that explains her delayed fixing and tracking and her nystagmus.
At our latest appointment they used cards to try to gauge how good her eyesight is. So presently it's 0.8 on the logmar (?) scale which equates to mild impairment and within range for babies 6-18mths. At home I feel she can see like a normal baby except really fast moving objects but that's because of her nystagmus.
I feel like we've come out the other side where things are not perfect but we've got the next best thing. So try to keep positive and get all the tests you feel necessary.
Omg m so happy to see a reply , you made my day
I'm a mother of 12 weeks old , almost 13 weeks old twin boys. We noticed one of the towns lack of tracking and eye contact when he was 6 weeks . Followed by a number of checks , one of his eyes was diagnosed with a condition that is shorten to FEVR , which basically means retina detachment , as hard as it was , I have came to terms with it as we were told the other eye is normal .
At 12 weeks we haven seen huge improvement so got his good eye checked again and he was diagnosed with DVM
so again we were back on waiting and hoping game till yesterday morning, I noticed his rapid eye movement , like nystagmus , it's very suttLe , I have done some Google searching , do ppl with nystagmus considered blind ? Can they see ? Have a normal life ?
I use to think my boy can follow black and white objects aNe that he had started following ha going toys on his swing but you know it's not that straight forward , it's up and down ....
i feel so devestated and helpless, worried, anxious , I just want him to be like his twin brother
I'm sad there are others who are going through this or have gone through but happy to know there is some one out there who knows what I'm talking about
please keep in touch and share your knowledge and experience
may 2016 brings joy and happiness to all
Her nystagmus is slow horizontal movement so unless people know it looks like she's looking around her. It might mean she can't drive as often people with nystagmus have trouble judging distance at speed or seeing fast moving things. But by the time she's old enough to drive maybe cars will drive themselves!
i hope youve got good support from the medical professional, and get some peace of mind soon.
Does that effect her everyday life ? Reading ? Sorry i don't know how old she is ? Hand / eye coordination ? Playing? Also is it constant or does it happen now and then ?
Is there a treatment for it ? Or anything that can manage it ? Sorry too many question , I have started reading this forum from the first page , I'm getting there 😊
Please don't apologise, I've learned so much since the first time the HV noticed it at 6 weeks. She is now 8 months old. We think she's always had it and it used to be faster, sometimes she can really focus on something close and the movements become smaller. The ophthalmologist has said as she gets older she'll be able to it more as her muscle control improves.
All her other development is spot on and I wondered about her hand to eye coordination but it's fine, like she can pick up finger food etc.
The only treatment would be surgery if her null point (the angle she finds focusing best) is very awkward and uncomfortable. But it's not a total fix. at present hers seems central Which isn't a problem but they take time to settle.
i can't thank you enough for responding to me
so does this mean that apart from driving she can have a normal life ? Would she be able to go to a normal school ? Does she make eye contact ?if yes do u remember when she started making eye contact ? Please if you remember give me details of her progress xxxx
I really think my son has nystagmus too but this is my obsevation not the dr diagnoses , however, I'm starting to loose hope !! I'm gone ring the eye specialist to see if I can organise an appointment soon, it's hard to get drs during the holiday season
can I ask how have you coped with this emotionally ? I'm not doing so well. I'm exhausted , having twins is hard but I could manage, however, ever since finding out about his eyes... I barely have energy to move , my hair started falling out like there is no tomorrow ... I haven't certainly coped with it how I should . All my worry is his future , school ? Friends ? Sports ?
Btw where do u leave ? I live in Australia, in the beautiful city of Melbourne and I'm 31 years old
I'm in Scotland and once the health visitor noticed I had a GP appointment the next day, then 2 week wait to see Opthalmologist and since then we've had appointments every month or so. Now we've got a diagnosis I think we won't have them so often. id recommend getting an MRI and VEP test as soon as you can as they can rule out many conditions Or in our case help diagnose a problem.
I coped the best I could by telling everyone who mattered to me because I'm the sort of person who likes to talk things out. I felt very upset and totally imagined the worst but I have another daughter who's 3 and I needed to keep it together for her. (Your hair will fall out as that's part of your hormones returning to normal)
Our opthalmologist is a leading doctor on DVM here. His name is Dr Andrew Blaikie if you want to goog some stuff he's written.
He has said all his patients with albinism have gone to normal school with little or no extra support.
I always felt she could see me when I held her close, but she began tracking about 13 weeks but only on the right side then both sides, by 17 weeks she was consistently doing it, batting toys and would see me walk around her cot and follow me. We had no sudden 'switch on' of her eyesight but a gradual improvement.
I hope your wee one starts to show improvement soon.
I really hope so too h will be 13 weeks on Tuesday new I think he is starting to look up at the toys on his swing but again you know how it is I don't know for sure.
im trying to get my head around all these types of eye problems abd it done times not easy to understand them all, as some papers have contridctng information!!! Might be very silly to ask but your DD can see objects , follow them , grab items and make eye contact and gaze at faces with nystagmus ?? Is that right ? I really hope you say yes bkk initially I read that ppl with nystagmus can be considered ligally blind I guess it depends on how sever it is but invade of my son , if he has it , it's desnt look like that bad !!
im a bit scared of MRI, does it have any side affects ? So far we have done and ultrasound of us head and that was all good, his paediatric said if things look sus then we do MRI but now that I have noticed this rapid eye movement I guess I have to insist on it.
also have had an angiogram of his eye done and that was all good. im told to wait till he is 6 month and if he didn't improve then they will do investigation, the waiting is killing me but we have regular check ups the next one is early February .
Im also trying to put it together for the sake of his ten brother but go through emotions all the time ... I can cope abs I can't ....
Forgot t mention he also has done a blood test for some genetic testing but I can't remember what were the tests for !!! All came back normal
Yes with nystagmus she can fix and track objects but if it's too fast she won't. so like we've taught her to wave but at first moved our hands slowly so she could see all the movement. She does make eye contact but her eyes can't stay still looking straight at you. However, instead of the movements going wide they become narrower as she focusses. Me and the rest of our close family don't really notice the nystagmus now. Often other people don't notice or just think she's very alert looking about.
i think I read the same thing about nystagmus being considered legally blind and it sent me into a panic! But then I heard of at least 4 people with it who friends etc know and they all did/do everything someone with good eyesight does except drive. In the US more people with nystagmus drive, it depends on the rules.
Try a YouTube search, as I found a girl on it who described having nystagmus and that was pretty positive and helpful.
Also I reckon that not being able to drive is not the end of the world. I didn't drive till I was 29 and my brother still doesn't! He's got 20/20 vision just hasn't got the inclination.
I'm sure you would have looked up all possible treatment optind although I know they are limited but I read that sometimes some tablets and medication can fix it, have you looked at that ?
Can I also ask what test confirm the diagnoses ? Was it MRI ? I have my son booked in tomorrow to see the paediatrics to run some tests ... So worried and nervus
i have only noticed his eye movement couple of days ago and I don't know if it has always been there or have noticed it bkz I read it on Internet just recently but my husband thinks that might be due to some inner ear infection or inflammation that caused it !!!