Charlottes next appt is coming up

[Charlottes mum]

hi, I haven't posted for quite a while but I have "popped in" from time to time.
Some of you may remember my previous posts about my daughter Charlotte who has Down's syndrome, she is 22 yrs old now and was diagnosed with KC 5 years ago at the age of 17. Charlotte is due to see the consultant at the Hull Eye Clinic again on Monday 1st December and she will have a scan this time. She hasn't had one for quite a while. She had a pretty bad hydrops last year (Jan 2013) and altho she has been getting along ok since obviously her vision is compromised greatly by the KC. She ditched the RGPs last Jan. after the hydrops, she had tried so hard with them for about 2 years or so but never really took to them, behaviorally it was very difficult for her. So she has specs with photo chrome lenses, plain in the left side due to to scarring from the hydrops and pscript in the right side. She wears them most of the day when she is at her day centre and doesn't like to wear them at home, I think she's ready for a break from them by the time she gets home. They help a little I think but although Charlotte is very astute and has good speech and language skills, (she can talk the hind legs of a donkey!) its always hard to try to glean from her just exactly what she is seeing and how clearly etc whereas with a mainstream person you would be pretty confident with what they are telling you. With Charlotte we have to be "led" by her and watch her closley for any signs of visual discomfort and complications etc. Quite stressful practically second guessing and making sure we don't "put words into her mouth or ideas into her head". The only real issues we have are that when she's tired her eyes are a bit red rimmed (mind you so are mine and probably most peoples) so plenty of sleep is important. We use Clinitas Soothe vials for her eyes and they help with any dryness.The consultant mentioned the possibility of CXL in her right eye at some point depending on how far advanced the KC is in that one. Its totally out of the question apparently for her left eye as that's too scarred after the hydrops. The CXL thing worrys me greatly because I know that Charlotte would fidget with her eye if she was in any discomfort. She's not (and never has been) a "rubber" or anything like that but she would be touching her eye a lot if she was bothered by it. So of course I ask myself this, does she have the CXL if she is a candidate and risk the upset and discomfort (which could lead to damage??) afterwards or does she not have CXL and we just pray that she doesn't ever have a hydrops in that eye. She has scarring in her left eye but now it looks quite nice and flat in profile whereas before hydrops it was ridiculously conical and really did almost resemble a dewdrop waiting to drip! The cone on her right eye is pronounced (in profile) but nothing like the other eye was. Sometimes I test her vision and try to make a game of it, she seems to see more than she's letting on. I do this in different scenarios and places so as to gauge her visual acuity and in doing so I do take "a step back" and try to not be the mother who is willing her to see more. She does surprise me sometimes with what she's seeing I must say and in a positive way too. I desperately want to make the right choices for her but I am so frightened. What if she hydrops in that other eye and then she'll be really struggling with her vision. At the time of the hydrops the consultant raised the subject of graft surgery. We waited to see how her eye healed and then because Charlotte was doing so well afterwards we decided to not rush into anything, the consultant supported this and agreed that her eye had healed much better than he had anticipated. The surgery was something we are desperate to avoid, it would be too stressful for Charlotte and she would not fully understand the importance of the healing process. So here we are, the December appointment is coming up and I'm like a pressure cooker of stress and worry. Again.
Any thoughts as always would be very much appreciated and welcome. Thanks, Angie

[Anne Klepacz]

Dear Angie,
It's always an inspiration to read your posts and see how well you and Charlotte cope with everything KC throws at you both. It's great that she'll be having a scan at the next appointment because that should help you decide about CXL. I guess the important thing is how thin the cornea is in her right eye (which the scan will tell you) because that will affect what the risks of hydrops in that eye are. Though while hydrops is very unpleasant, it isn't always a negative thing. As happened with Charlotte, it can actually improve the shape of the eye, and the scarring that happens isn't always in a place where it affects the sight badly.
Crosslinking can be done under a general anaesthetic (one of our other members with a learning disability had it done that way) though of course the worry for Charlotte would be the first day or two after the procedure, which can be pretty painful. So it's not an easy decision to make. But you've obviously got a great consultant who isn't going to rush you or Charlotte into treatments that aren't absolutely necessary. So I guess all you can do is see what the scans show and take it from there and talk through all the pros and cons.
All the best for 1st Dec and do let us know what happens.
Anne

[Charlottes mum]

Thank you Anne, your reply is much appreciated. Charlotte never ever tells us that her vision is naff, I think mainly because the impairment has been so gradual and over several years even prior to diagnosis. She seems to know her limitations albeit while taking her lead from us, her parents. There are only a few things that seem to bother her such as if we are in the car at night and the glare from lights. This isn't very often though and we tell her to look down until we're back home. Also we always try to make sure that if she ever has her photo taken that the flash is off (and we explain/remind people why), she's not keen on disco lights, we think its probably due to "ghosting" etc but she's at day centre every day and doesn't go to discos really, if they have a bit of a disco there its always in the daylight. She has a very full social life so I don't think she's missing out on that score. If we go to a show (recently Ant & Dec in Manchester) she will have extra eye drops (Clinitas soothe) and sometimes "looks down" if the lights bothering her, doesn't spoil her enjoyment though thank goodness. I'm a major stresshead worrier tho, it seems so unfair that she should have to cope with KC as well as having a severe learning difficulty such as Down's. I know dozens of people with Down's and not one of them has KC. Just my daughter. Life sucks sometimes

[Anne Klepacz]

Quite a few of us with KC find bright lights painful and the scarring left by the hydrops may well have made that worse for Charlotte. When I go to the cinema or theatre, I sit there with my dark glasses on and ignore the funny looks I get from some people! Being a passenger in a car at night is also a pain - as well as my sunglasses, I always choose to sit in the back seat to protect me a bit from the oncoming headlights.
Being a parent of a child with KC is often harder than for the child themselves - the person with KC tends to develop coping strategies and as you say, the changes tend to be gradual so we often don't realise how much we're missing! But it's great that Charlotte has such a full social life and gets the most out of her activities. I'm surprised though that you don't know anyone else with Down's who also has KC - it is supposed to be much more common in that group, though it often used to go undiagnosed in the past.
Anne

[Charlottes mum]

Yes Anne I too have read that a percentage of people with DS develop KC. I certainly wonder if it's the case with some service users (Down's) I regularly come into contact with through Charlottes day centre but as you can imagine it's not my place to ask them or their key workers and no staff have ever mentioned it to me either. it'll be to do with confidentiality I reckon. oh well. We plod on......