Monday 31 May 2010

More rod-friendly activities

Even though Charlotte was not blown away by the raver-store in Camden this week, she loved, loved, loved the bowling alley we went to today!

They had some UV lights and the lighting was mostly pretty dim with just the pins well illuminated. She flapped her arms and kept her mouth wide open the whole time. She also pulled herself up to standing for the first time. She isn't a great stander but she was really enjoying it today. I guess I should give her more situations where it is rewarding for her.

It's so nice to be able to compile a list of fun things for Charlotte to do. It's great to think that she can have bowling Birthday parties and do fun and physical things in low lighting. Hopefully it won't bother her too much if she can't see the pins!

The kindness of strangers

Yesterday at church we had a very nice thing happen. The church is one that we have been going to on and off for about four years and the congregation is not known for its warm welcome. So yesterday when a woman approached me, I assumed she was trying to get past. Then she asked me if Charlotte's sunglasses were medical or fashionable. I wasn't that keen to discuss it but then I realised that her approach had been so sensitive that she obviously had some experience of these matters. She told me that her daughter has an allergy to UV light and she wears protective clothing and sunglasses and avoids bright situations.

This is the first time I have had a conversation in person with someone who has been through a similar thing to me. I had to leave but I gave her my number and asked her to call me. I told her that I am in Hampstead every afternoon and I would love to have a coffee with her one day before we pick up our children from school. It was really nice of her to come and introduce herself to me and I am very grateful. I do hope she calls.

Her daughter also goes to one of the schools that it would be possible for our girls to attend and she said they have been wonderful in accommodating her daughter's special needs.

Friday 28 May 2010

Luckier than some

I have recently regained contact with an old friend who has been in my thoughts a great deal over the last few months.

We met when Emily and her little girl were just 3 months old. I was friends with her when her daughter was first diagnosed with Cerebal Palsy. They moved back to Australia before they witnessed my little girl sitting, eating, speaking, standing, walking, talking. They are still hoping to witness (some of) those milestones in their child's future.

Meanwhile, they work very hard to get her the equipment and services they want her to have. They travel to the ends of the earth for treatment and spend all their free time fundraising to pay for it all.

When we first learned about Charlotte, I started thinking about my friend again, she is the only person I know with a disabled child and I want to connect with others. But we hadn't kept in touch and I felt funny emailing. What would I say? "Hi, remember me? We have something in common now, my kid is disabled too, isn't that great?" Um, no. But then I got an email from them, a progress report to all their friends and supporters, it was a nice open door for me to send a note back, so I did.

They will be in the UK in July and we might have a chance to cross paths. I'm nervous about seeing how disabled their daughter really is, I saw that fear on my Mum's face when she saw Charlotte again.

We have it so much better than they do, Charlotte can communicate, will develop normally, is healthy, we expect to have a very normal family life and we can afford whatever she might need (and have a govt who would provide it anyway). I used to feel like I didn't want to feel grateful we aren't in a worse situation, I was jealous that I even thought about it at all, but I am grateful. Finally, at peace, and grateful.

Wednesday 26 May 2010

Cyber-kid

Today I took Charlotte to Camden to take her to a store that sells glow-in-the-dark stuff for clubbers. The only lighting is UV lamps, the shop is a tiny, dark cave and everything glows beautifully.

I could never take Emily because there is some wierd stuff in there and it is a bit spooky but the techno "choons" and burning incense certainly brought back fond memories of my heyday!

Charlotte wasn't blown away by it, as I hoped she would be. She liked it fine but I was really hoping she would be transfixed. I'll have to tell the low vision teacher and see what he says. He is going to bring his UV light so we'll be able to give her another go at it. The man in the store wouldn't sell me any of his lights.

Before the Camden visit, we went to Regent's Park and played on the swings and in the sandpit which was fun.

Another good thing: I joined a Facebook group for Achromatopsia and messaged one of the women who is a parent of a one year old and in London. She was really quick to get back to me and hopefully we will talk on the phone soon. I am really looking forward to sharing some common experiences with other parents and giving Charlotte the opportunity to know others with her condition.

Tuesday 25 May 2010

Hearing check

We had an appointment at the ENT hospital today. I am not particularly concerned about Charlotte's hearing but hey, I'll see anyone who will see me! No, seriously, it came about because of the visit to the Developmental Ped when she was 6 months old. He asked how I felt about her. I said I probably would not yet be worried about anything if she didn't have nystagmus. I then said that if I did have a concern, it would probably be about her hearing first because she doesn't turn towards the source of a sound.

So he referred us, it took a while but it wasn't urgent and I wasn't worried. She didn't pass with flying colours. I shouldn't be surprised and they do think that her underlying hearing is probably normal. They want to see her again in a few months time.

Firstly, she has some congestion in her middle ear. No kidding. The two little girls are the biggest snot-factories that I have ever seen. If snot was worth money, I'd be rich!

Secondly, she didn't do great at working towards looking for the source of a sound. Well, the test wasn't optimal for her. The room was brightly lit with flourescent lights and the "reward" was brightly lit boxes of animal puppets dancing. She probably couldn't see a thing inside them. They did turn off the room lights in the end and she liked the lights on the boxes but they were very harsh. They replicated the test in another room with the doctor and an assistant but she still didn't do great. She much preferred the spinning silver disk to turning to look at the doctor.

It's funny, they didn't have anything like the right equipment to interest a visually impaired child. How do they deal with deaf-blind kids?

Saturday 22 May 2010

Prof Cone

I have so much to say about yesterday's appointment and I finally have about 5 spare minutes while both of the little girls have fallen asleep (Charlotte on her changing mat - on the floor, with her clothes half off; and Emily in her bed with all her clothes on and the sun streaming in through the blinds).

We were at the hospital for nearly 4 hours and saw Prof Cone for about 10 minutes. We were in danger of not seeing him at all, but more about that later.

First we saw the Orthoptist. I'm not entirely sure what they are and I'm too lazy and disinterested to Google it right now. She checked Charlotte's visual functioning by holding lights and small toys at various distances and angles in front of her. There seemed to be a bit of concern over her right eye because she really didn't like looking when her left eye was covered. I need to keep an eye (!) on that.

Then we had drops, she was an angel, not a peep out of her. They take 1/2 an hour to take effect. After that we saw the Optometrist who measured her focal length. Apparently she is longsighted which is normal for babies at this age as it challenges their vision appropriately. The good news is that she doesn't need a prescription. Good news too because I have just spent over £25 on a pair of sunglasses from RNIB which have yet to arrive.

We talked a little bit about contact lenses but everyone was struck by how she didn't seem bothered very much by the light, even with the drops which generally make everyone more light-sensitive.

The Optometrist said I was next in line to see Prof Moore. I worked out who he was and sat where I knew he was coming to call patients. He came out three times and called three different names. Eventually, I saw the Optometrist again and asked her about it. She confirmed that we were still next. Then someone else called us in.

Uh-oh, this wasn't Prof Moore, this was another consultant working in his clinic. No, I was there to see The Prof, no-one else. It's a bit unfair to call him an underling because he is a consultant, but that's what he was.

I was asking him if they thought it was Acromatopsia or Cone-Rod, or anything else. He spent a long time looking at Charlotte's retinas. I also asked him about genetic testing. He said that there is not any research currently underway so we would enter a database and be called on if something comes up in the future. So I mentioned the study I had read about where they cured Acromatopsia in dogs with gene therapy and were preparing to progress to human trials. He had clearly never heard of this and asked where I heard about it. Um, the internet... Oh yes, it was reported on the website of the Foundation Fighting Blindness. Whew! Thankfully he was impressed and said, "I'd better get the Prof in to talk to you". Result!

When the Prof arrived, he had an entourage with him (often a good sign - or not, depending on your point of view). He also spent a while looking at her retinas and commented on her lack of light sensitivity. He said that every symptom points to Achromatopsia: the type of nystagmus (low amplitude and fast), the age of onset, the results of the ERG and her visual behaviour. I kept leading him back to a discussion of cone-rod and he was nice about discrediting my fears. One of the things I asked him was if it is cone-rod, could Emily have it and we not know yet. He said no, these things usually present in the same family in the same way and she would have symptoms by now. He was really nice about everything really: direct, to the point and compassionate too. When I told him that we have been told almost nothing, he went back through the process of diagnosing the underlying causes of nystagmus.

Thankfully I have done so much reading about Acromatopsia recently. Martin may have thought it was a bit of a waste of time but it really helped me understand what we are dealing with and what questions to ask.

I asked him if there is any point in having another ERG within 6 months and he recommended that we wait 2-3 years. I guess that is because whatever result they show at that time would be the definitive one and any tests in between would merely confirm the final result. Michael says they are painful so I am in favour of skipping them.

We saw the genetic counsellor afterwards. This wasn't to discuss our family circumstances but to agree to go on the research database. She said that if there is a reason to take a blood sample from Charlotte in the future, contact her and she would send a blood pack for an extra vial for them. She said any results could be a year or more away. I asked her about private testing and it looks like it would be in the range of £1,000. Not out of the question, of course, but it could be inconclusive and I don't feel like it is urgent. She is going to get back to me next week with a bit more information.

It is strange that I feel so elated at receiving such a serious diagnosis. One: I feel relieved to have a diagnosis; two: I am jumping for joy that it is non-progressive and the vision she has is the vision she will keep; three: I am delighted for her that she will never know the difference and never know what she is missing. But I am kind of sad that a treatment will be available within 20 years and she probably won't benefit a great deal from it. She will probably be within the last generation of achromats.

Oh what a beautiful morning!

We had such a lovely morning yesterday, the two little girls and I. The weather has really warmed up and we went outside. Even better, it was partly cloudy so our already shady deck was optimised for Charlotte. Of course, it was dim and dark inside but it was so lovely to be outdoors and feel the warm air on our skin that I wanted that experience for her.

Emily had a blast, she played in the sandpit, wheeled teddy around in his pram and had a picnic lunch. Charlotte's reaction was a little more mixed but I think she enjoyed eating her lunch outside.

My treat was that I had done all my daily chores so I could really relax outside. We spent hours out there. The morning was so leisurely that by the time we left for school after lunch, it felt like late afternoon.

It was one of the most perfect times I have had with the girls. Ever.

Thursday 20 May 2010

Tomorrow...

...tomorrow ... is the big day to meet Professor Cone. I have my list of questions ready and I'm prepared to beg for genetic testing.

There have been some results published about a study on dogs that cured achromatopsia with gene therapy. That's pretty exciting. The tough thing about having Charlotte participate in a study (not that we've been asked) is that her condition isn't life-threatening and gene therapy is at the forefront of new (risky?) medicine. If a family had nothing to lose by persuing new treatments (ie. Your child is going to die or be severely disabled regardless) it would be an easier choice, but how can we choose something for Charlotte with an uncertain outcome when the alternative is still a full and happy life?

Tuesday 18 May 2010

Nervous jitters

I'm getting ready for our appointment with Professor Cone on Friday afternoon. I hate this. I lie in bed at night, trying to prepare for the worst, but hoping for the best. I feel convinced that this is just part of the cascade of bad news that we have been experiencing ever since Charlotte's eyes first started to wobble.

Of course, we are not really going to have any new information on Friday, this is just to get the ball rolling. Every night I cuddle Charlotte and whisper to her, "Please don't have Cone-Rod, please don't have cone-rod, please don't have cone-rod" but I don't think it makes a difference.

Friday 14 May 2010

Blinds for the blind #2

I've finally got some blinds fitted for our kitchen windows. I'm not sure they are going to do much more than filter the light but we will put them to the test tomorrow at breakfast when the sun is at it's strongest in there. We can cut the sky at least. It makes me a bit sad because it shuts out the garden which is looking really nice at the moment but I am happy to make modifications to our house for Charlotte because there is so little else I can really do for her.

That said, she is doing so well at the moment that I'm not at all worried about her, either for her development or her future. She is coming along in leaps and bounds, getting more and more physical every day. It's so funny, I have no experience of a baby who behaves this way, Emily was so passive and I have no idea what to do with a wriggly worm of an impatient baby!

Thursday 13 May 2010

Blinds for the blind

I've finally ordered some shades for the kitchen windows. We have windows on three sides, reaching all the way to the ceiling and some are South facing. It's so bright in the Spring and Autumn that we wear sunglasses in there. These aren't exactly light-blocking, more like light-filtering but they were a good price and, given that we either want to sell or renovate, I don't really want to spend any money on the house. Now I have to install them...

A real baby!

Charlotte is doing so well at the moment, she is developing beautifully and becoming very active and opinionated. She is trying to grab my phone at every opportunity and gets so mad at dinner time if the food arrives on her mouth too slowly! She is starting to feed herself too and I am trying to bring myself to let her and not care so much about the mess.

When my parents were here, we all noticed a change in her over the month of their stay. It helps that she is getting bigger and her hair is starting to grow too. She seems to be seeing more at a longer distance and in brighter lighting. I am trying not to draw the shades all the time so that she can adapt to more conditions. More about that later.

Future posts: blinds for the blind, red lenses.

Monday 10 May 2010

Light or dark?

Depending on what I have just read, Charlotte either has Achromatopsia or Cone-Rod Dystrophy. If she has one, I don't want to over-darken her environment and if she has the other, exposure to bright light could hasten the degeneration of the retinal. Damned if you do, damned if you don't. Welcome back to Motherly Guilt.

She had a good weekend though, the weather was overcast and we practised going without sunglasses most of the time. She was so lovely that I started wanting another baby!

Thursday 6 May 2010

Acromatopsia anyone?

I've been doing more of my amatuer internet research and come across a new term: Achromatopsia.

I think this is what Charlotte's Ophthalmologist thinks she has. She (the Opth) can't confirm this without either genetic testing or further ERG tests over a period of 2 to 3 years because she (Charlotte) could have Cone-Rod Dystrophy. I have to check with Professor Cone if these are the only two conditions that it is possible for her to have.

I'm crossing my fingers for Achrompatopisa. I've found a bit of information, not much, but what I have is very useful: personal anectodes of preferred lighting situations, visual aids and optimal room environments. It is all very helpful no matter which condition she will turn out to have.

Charlotte's VI teacher is coming again today. I was really encouraged by his last visit and his assessment of how good her vision really is. Hopefully it is the same today!

I'm also tossing up about the benefits of us going to a family day out in August. It is run by the National Blind Children's Society at an Adventure Playground for special needs children. I am of two minds about going. She seems a bit young for this sort of thing at the moment, on the other hand, it will be valuable for her to develop a peer group of her own and socialise with low vision kids. She will certainly get something out of a day out, she will be 11 months old at the time. But I am really nervous about being confronted with children and families who are dealing with severe disabilities. I am worried about witnessing disfiguring conditions and also about feeling sad about the struggles that low vision children face. I'm not sure I am ready to confront these things yet. Or ever. I am going to see what Martin thinks. It is on a weekday and he would have to take the day off work. I'm not going to go on my own, logistically and emotionally it is not something I am able to go to without him.