Coloboma. Anyone with knowledge/experience?

[cockle84]

Hi. My niece has quite a severe case of bilateral coloboma. She is now 22 months and I don't think she's ever slept through the night. Her mum and dad are often awake with her for hours in the night because she won't sleep-she just wants to chat and play. she is very hyperactive in the day as well. She is a beautiful and loving little girl but she just won't sleep and her parents are exhausted.
Was wondering if anyone had a similar story or if they could offer any advice on coloboma in general.
Thanks.

i had to google it as had no idea what it was!
why is she not sleeping? Its seems to be a eye deformity from what i read but deosnt say that its a side effect, do they think its something linked?

Well, not sure if it's an actual 'side effect' but there seems to be a few things that go along with coloboma like learning difficuties, hypermobility etc and we're all wondering if this hyperactivity is all part of her condition. Also not sure if the eyesight deficiency is making her feel insecure and that's why she's not sleeping and feels the need to be with her mum and dad all night.

have they tried melatonin?

22 mos is still quite little though - not desperately unusual to be wakeful during the night. have they got any sleep advice from the gp/ hv already? or has it all been exhausted?

agree that i'm not sure i would be treating it as 'part' of the condition unless the paed agreed - what does her paed say? the paed would be the one to discuss melatonin with, but she might be too little to consider it yet.

given that the coloboma/ hyperactivity link in mice is reversed with stimulants, (no idea about kids) presumably it means that at an older age (usually 6 or so) other meds can be trialled - standard adhd meds like ritalin, which might be beneficial.

but i would be suggesting they discussed sleep issues with the paed, gp or hv (does she even have a paed/ eye consultant for coloboma? i'm guessing hers is rather more severe, not the m mcc variety)

sometimes i have a tendency to attribute issues to dd2's disability when really they are just run of the mill childhood things (she went through the usual night terros thing, which at the time we thought might be muscle spasms etc, but as she was non-verbal we couldn't tell. it certainly sounded like she was in pain for hours!) so now i always try and go for the 'ordinary kid' option first.

having looked up visual impairment and sleep (very briefly), it seems to suggest that most treatment is behavioural, rather than via prescription (i only know kids with complex VI and other issues, not solely VI, so this might be why i know more kids on melatonin lol) . do they get any support through any visual impairment charities? often parents of other visually impaired kids might offer some ideas.

Thanks, I'll look into melatonin for them. The Occupational Therapist seems to think that her eyesight deficiency is making her insecure but it's very difficult to tell because like you say she is very young still. She can say quite a few words but isn't able to express herself really and can't tell us what's wrong, she just gets frustrated.
I agree that a lot of children are still waking in the night at 22 months, but this does seem extreme (may not be attributable (sp?) to Coloboma but maybe hyperactivity in general?. For example she doesn't go to sleep until 8pm, sometimes much later. She will sleep until about 1am then she's wide awake until 5am. If they don't bring her into their bed she crys (CC is not possible she gets too upset) When they do bring her into their bed she just jumps up and down talks at them and asks for anything to keep them awake. It's not like she naps for long during the day and she's very active.
I just feel for them, especially as I have a 7 month old who loves to sleep (constantly feel guilty)!

weighted blanket might also help then. is she still in cot/ toddler bed with rails?

Just seen your second post. I'm not sure if they speak to other parents, I'll ask them next time I see them. thanks

Yes, still in cot. I'll suggest the weighted blanket!

i'd be tempted to put a mattress on the floor of her room and not get her out of bed tbh. soothe from there but try and re-assert the your bed, and my bed thing. really difficult. can she see any residual light? i assume she isn't blind and has some vision? do they get dla? might be worth employing a sleep expert for a week to see if they can crack the problem. i'm sure somewhere i've seen a VI style of bunny clock - it either plays a tune or there is a bright light directed upwards when the child is 'allowed' to get up (you set it for whatever time is appropriate - 6.30 or whatever). so if the bunny isn't awake (light not on/ music not playing), you just say 'nope. not yet.' and eventually train the child to look/ listen for the 'daytime' cue. i can't remember where i saw the idea though... it must be tricky - i don;t know how much residual sight she has, but it does make sense that if you wake up and feel fine, it must be daytime (as you can't see whether it's dark or not), so they will have to find another cue for her that doesn't involve seeing whether it is still dark or not. iyswim

so i'd also be working on how you teach day/ night to a VI child (this will obv depend on her perception) and how they will signal this to her. again, a vi charity will probably have lots of ideas?

You need to be very careful, weighted blankets have to be very clear on weights and isn't recommended for any child with mobility issues.

She has some vision yes (does receive dla), but we have no idea how much, and she has to look at things very close up and at an angle to see them it would seem. Interesting idea re the clock, I'll get them to look into it and ask if they'll consider a sleep expert and suggest they speak to a vi charity about the day / night association. Thank you.

ok thanks lisad

**how much she can see, not how much dla she gets ;0)

have they tried using any different sorts of lighting? My dd3 has a vi and she always has a disco light thing going when she goes to sleep, it does help calm her. She's not happy when she wakes in the night but we've discovered she also has night blindness and can't see anything in the dark, that's pretty scary really so can't blame her. Does she get any help from a Qualified Teacher of the Visually Impaired, ours has been great and has all sorts of hints and tips.

How did you find out your child had night blindness? No, I don't think they have any help like that, How do they go about getting someone?

can you get one so early, ninja? i thought pre-school was the earliest?

madwoman, the QTVIs all work with dcs from birth here and in the neighbouring boroughs. Guess it must vary by area.

cockle, dd3s consultant mentioned it was a strong possibility and as she got older you could just tell she couldn't see anything in the dark, she's also photophobic and can't cope with bright lights either. Have a look on your council website, QTVIs can usually be found under education somewhere (not to be confused with social services vi team) under something like sensory impairment service. You can usually self refer or the hospital can do it but they usually work with dcs from birth although they are probably on half term this week too but get your friend to give them a call.

Great, thank you. Will definitely look them up!

that's fab.

it's not good is it madwoman

DS has a small coloboma and I have never heard of it causing problems other than with vision (luckily ds's is not affected); it sounds like there might be something else going on???

Where we live the eye department refer to part of our Local authority, called the sensory support service who will work with children both pre school and at school; it might be worth suggesting that the parents ask about this. For the child its really just about playing but all aimed at the visual "experience". Through them DS was also put in touch with the charity "Sense" and saw one of their play workers. THe games they play help the professionals to see how much functional vision the child has as well as giving the parents lots of advice of things they can do at home.