What a clever girl!

Charlotte can see so much more than I realised! She was emptying the kitchen cupboards again yesterday and started handing me plates. Then she wanted to put them up on the counter. This is delightful because she is mimicking me - our kitchen is brightly lit and her chair is a couple of meters from the counter. So this is marvellous vision indeed!

The sweetest moments

...are the ones that I never write down, and I really must, because they are so wonderful, and so easily forgotten.

This morning, Charlotte and I had a lovely cuddle in bed. She laid her head on my chest, she was perfectly still: no squirming, fidgeting or tensing. I stroked her hair and she lay across me, completely relaxed and calm. It was such a lovely start to the day, I wish all our days began in such a sweet and beautiful way.

Gene therapy research

I read an interesting article today about the advancement of gene therapy for different types of retinal diseases. Nothing brand new, but a good summary of the picture to-date:

http://www.discoverymedicine.com/Knut-Stieger/2010/11/16/gene-therapy-for-vision-loss-recent-developments/

Of course, it is the Internet, the largest source of unverifiable information anywhere. But it does give me hope. Hurry, hurry, hurry! Before she gets too old.

Tears of joy

I have been away from home again - the second time in two weeks. This time I went to Dubai for work. I kept the trip as short as possible but I was still away for two nights.

When I got back this morning, Charlotte recognised my voice and knew I was back. She bottom-shuffled over to me and when I picked her up, she was so happy! I just held her and cried! It's lovely to be so adored, especially by someone that I adore so much.

Perfect holiday accommodation

We have become huge fans of holiday cottages in the countryside. With two small children it is so much easier to load up a car, drive somewhere, get our groceries delivered and hang out for a week than it is to fly anywhere and stay in a hotel. The great bonus is that the setting and the style of the accommodation usually works perfectly for Achromats! The cottages are often old conversions of barns or farm buildings and have low ceilings, small windows and lots of beams. The weather is usually not particularly sunny either. We have had to be careful with unfamiliar stairs but they haven't proven to be the babyproofing nightmare that I feared. Luckily we were never that crazy about beach holidays and I can't wait to take her horseriding one holiday!

Twighlight babies

We're now officially raising a family of twighlight babies. The great news is that the little cousin is not having plastic surgery or anything on his face. He is expected to make a good recovery if, if he is kept out of the sun at all times for the next couple of years. That makes Charlotte the perfect playmate for him!

We're so relieved that the prognosis looks good for him. Obviously, they are not out of the woods yet and the conditions are onerous but, compared to the alternatives, it is a really good outcome. Now comes the hard work for them all.

Luckily we all live in climates that have long hours of darkness in the winter, long twighlights and frequent cloudy and rainy days. Wonderful conditions for us sun-avoiders!

In the blink of an eye

I've been pretty quiet recently. We have been feeling very normal and just getting on with life. Then, even more recently, I have been too upset to post: Emily and Charlotte's baby cousin has been in hospital with severe burns. To his face.

I can barely bear to write about it and yet, I can't bear not to. I want to tell you to hug your kids tight and stroke their perfect, tender skin. Kiss them all over their sweet faces (until they push you away!). Smell their hair, savour them in all their perfection.

And baby-proof your house! I am aware of how slack we have been in this area. We have uncovered nappy buckets standing in the bathtub, hot water that comes on way too hot, an oven that is an endless attraction and many, many unsafe toys that belong to the older one that were not in existence when we only had one child. We've not moved house or anything but for some reason our house is not at all well baby proofed.

Poor little cousin, he is only 10 months old and he pulled a cup of freshly-poured tea down on to himself. He has been in intensive care and is still in hospital. They are talking plastic surgery. We just hope and pray that he is going to be fine, that he will make a full recovery, that this will not scar him physically or emotionally, for life. We don't really know, no-one can tell how he is going to heal. We haven't seen him, they live a long way away from us, the other side of the country.

I feel so, so afraid. Afraid that something else terrible is going to befall our family. I lie awake at night, worrying about Emily. She is the only grandchild that Mr's mother has who is not disabled or disfigured - what's going to happen to her?

Warm welcome!

I love getting home from work and being greeted by Charlotte when I walk in the door! She is always so excited to see me. She crawls over as fast as she can with a big smile on her face. She can find me with no problems and rushes over to be picked up for a kiss and a cuddle. Yesterday, I said "ahhh" as I nuzzled cheek to cheek with her and she said "ahhh" back to me and patted me on the back! Ahhh...

I never got that kind of affection from Emily, still don't. She used to cry when the nanny left for the day and she still says, "I don't want Mummy, I want [insert nanny or babysitter's name]!" I know it's because they do fun stuff with her that I don't do: painting, play-doh, floor puzzles. At least I can go to work completely guilt free!

Achromatopsia in the press

Well, ok, so it's not mainstream media but Woman's Day is about the most widely read weekly woman's magazine in Australia so it must count for something:



Aside from calling it "Chromatopsia", it's quite nice to have any of these kind of human interest stories that raise awareness. I do think the parents missed an opportunity to raise funds for research and gene therapy by mentioning some such organisation as Foundation Fighting Blindness or Australian equivalent. It's a pity they didn't reference any future possible treatment at all. It might have given the story a little more poignancy or urgency. Maybe it's not the magazine's policy, but I couldn't see a particular point to the story (it's mainly just, "Here's our blind kid").

I do get sad when I see pictures of children walking with white canes. I am very, very much in denial about this part of Charlotte's future. I know not all Achromats use them but it has been a bit of a shock to realise how many actually do. I still joke that a guide dog is the only way this family are getting a pet!

My Mum has been very comforting about this for me. She is very good about the one-step-at-a-time stuff (so is M, so I am very lucky), she said that whatever Charlotte needs at whatever time, I will be glad to get for her and I will adjust to whatever it is at the time it is needed. One step at a time. And don't borrow trouble.

A normal kid

We are too boring to be interesting to medical professionals. I love that! Charlotte was discharged from the Developmental Paediatrician today. We were going as a monitoring exercise and he has seen us twice. While he was examining Charlotte today and she was co-operating, chatting, making eye contact, smiling, he looked at her and said, "Look at her, what can I say?" I said, "She looks like a normal kid." Exactly. Move along folks, nothing to see here.

She also has a new tooth and it seems to have been bothering her because she was in the sweetest mood today. We had a lovely time and she is such good company. Emily was off sick from school today so I didn't get the long Charlotte-day that I was hoping for. But Emily wanted to sleep much of the day so Charlotte and I did have lots and lots of one on one time. She is just darling!

Silver linings

Picture this: it's December, you have to go shopping for gifts, the cars are queuing up at the mall just to get into the parking lot, all the spots are full, but there are 15 empty bays right by the doors. Disabled spots. Mine!

We qualify for a blue badge and I'm sure as .... going to use it. Well, once we get a car. We've got all the paperwork for Charlotte's registration and we also get 50% off our TV license and she gets free bus travel. It ain't much but I'll take it.

And if anyone wants to trade: I'll give it all up for two (or just one) retinas full of working cones. Apply below.

Now she's cruising!

And getting ready to climb. She only started crawling about 3 weeks ago. She's ready to head off on her own. Emily was nowhere near this advanced, she didn't take any weight on her feet until 13 months. But Charlotte still only has 4 teeth and doesn't really speak so it just goes to show how different they all are.

"Ma-ma"

Going to the hospital on Tuesday did affect me more than I thought it would. It was a pretty sad day. But after a little cry that evening, I've been ok since.

Because I was feeling so down, I worked extra hard to get Charlotte to say Ma-ma for the first time, and she did!

She said "Da-da" a while ago but doesn't say much very often. (She probably has no opportunity with Emily around, making so much noise.) But when I was bathing her that evening, alone, she was making lots of sounds so I worked on having her watch me say "ma ma". She stares intently at my lips when I am making sounds, like she is really trying to look at how they are made. I am surprised by how visual it seems to be for her. I guess I thought that speech was mostly aural and she would just start making proper sounds on her own. I think I will have to start spending more time speaking clearly very close to her face so that she can see my lips moving properly. This is something I guess we take for granted in a fully sighted child who can see our lips moving across the room.

Back to school

Emily had her first day back at school today (thank goodness!) and it went very smoothly. I'm giving myself huge pats on the back for talking about going to school and wearing the school uniform with such successful results! She told me last night that she was excited about going to school and this morning she asked for breakfast at 6am so that she could put on her uniform straight afterwards.

The really cute thing today at drop off was watching Charlotte in the classroom. The parents hung around for a bit as the children settled in at the tables to do puzzles or colouring. I stood Charlotte up to one of the tables and she was grabbing away at the puzzles in her amber sunglasses. It was lovely how natural it seemed for her to be there and the other children didn't think anything of it (well, Emily was a bit upset when Charlotte grabbed her puzzle). It was like nothing to her.

I hope that we can stay in the same school community for most of Charlotte's schooling. This would give the children a chance to grow up knowing her and then they can get to know her for her other attributes, rather than always seeing her as the blind child. Problem is, this is a very transient city and neighbourhood and we are not even sure where we will school her at the moment. It depends where Emily goes.

Registered Blind

We were back at Great Ormond Street today to see Charlotte's primary Ophthalmologist. She had a letter from Prof Cone after our appointment at Moorfields so she was able to confirm the diagnosis of Achromatopsia. I requested and she offered registration for Charlotte. They can put her down as Severly Sight Impaired/Blind based on the expected outcomes for people with Achromatopsia.

I've been expecting to register her for some time so it's not a terrible shock or anything. At the same time, it does feel that this moment has some gravity. The form quotes that registration defines her as "disabled" under the Disability Discrimination Act, so it is quite a big deal the day one's child is legally defined as blind and disabled.

At the same time, I am not really feeling the weight today. This is nothing compared to the way I felt in the early days of Charlotte's impairment. We have known this for so long that this is not unexpected, nor a huge shock. Clearly, it is a path we would rather not travel but I see these legalities more as an opening of opportunities for her, rather than limiting her capabilities. We will have an easier time accessing any available services (not that this has been difficult to date), which will be very important for her education, and we can apply for disability benefits which we will put in a bank account for her as a nest egg for when she is older.

She is also the proud owner of some new eye patches. The Orthoptist at Moorfields noticed some weakness in her right eye in May, then I saw it in some photographs. It's not obvious when you look at her but when you cover her left eye, she is really insistent on uncovering it fast. I mentioned it today so they reported on it. Unfortunately, I said the right eye and I should have asked them to identify which eye it was (consultant pointed that out to me). Anyway, she said there wouldn't be any harm in patching for 1/2 to 1 hour daily and seeing how she gets on. Clearly she (Ch) is not going to like it so she also said that if it is really not working out for us (or the left eye is getting weaker), we can relax about not doing it too. Awesome, I love no pressure medical interventions!

I guess I should go in there right now and get the first patch on her but she is playing by herself so beautifully that I hate to disturb her! Maybe when Emily wakes up and we can all play something together. I think breakfast will be a good time to patch because she likes to eat and then it is done for the day. Poor little thing, it will probably irritate her already sensitive skin terribly. But it was me who asked for this and I would hate to miss an opportunity to do something for her when it is not such a big deal and have it turn into a big deal. She will look less blind if both her eyes move in unison and her vision will be so much better if they are both working to their full potential.

So that's it for today. Quite a lot of meat but no real changes to the bones of this thing.

Future post: thoughts on working mothers of disabled children a.k.a. my justification for getting out of the house and into the office!

Day off!

Work was somewhat overwhelming but I got through it and I realise I don't have to get everything done on my first day, or first week, back.

One of the reasons I love working is that it makes me appreciate my time at home so much more. I loved being at home with the kids today, I don't think I even shouted all that much. (Certainly less than I have been over the summer holidays.)

What did I wear in the end? A pink top with ribbon trim neckline, grey wool pants and black patent heels.

Heigh-ho, heigh-ho, it's off to work I go!

Tomorrow is my first day back at work after 13 months of maternity leave.

I have no idea what to wear. I don't think my daily uniform of jeans, ballet flats and a cardigan will work at the office, a suit feels like I am trying too hard (and none of them fit properly anyway) and black trousers with a white shirt just screams: "I didn't know what to wear." But I'm ok for shoes and bags!

Other (minor) complications: we're still breastfeeding and I'll be dropping her last daytime feed tomorrow, I am going to miss her terribly, she is going to miss me more, Emily is old enough to know what is going on and might decide that she doesn't like it.

Despite the "first day of school" jitters, I am looking forward to going. Shallow joking aside (drinking a coffee while it's still hot, not hearing "Mummy! Mummy!" every 30 seconds, going the toilet with the door closed), my reasons for working are many and varied and I am delighted to still be part of the workforce.

We'll see how it goes...

A year ago today...

...I was a superhero for giving birth in 3 hours

...we had two perfect little girls

...we were so happy

Luckily, we are still so happy, we still have two perfect little girls and I still rock for birthing two children!

But I'm also so sad, so very very sad. Life has shifted on it's axis, ever so slightly, but a significant shift nevertheless. I wish I was back there a year ago and I wish I could just erase that one little genetic spelling mistake...


----------------------------------------


Well, that's enough of that.

Happy Birthday Charlotte!

We had a really nice day today, Charlotte got presents in the morning and she loves her new shape sorter. I made chocolate cake, with white chocolate icing, in the shape of a 1! The photos look great (mainly because I am wearing makeup!), I spent most of the morning on the phone to my lovely family and a friend from Kenya was on a 24 hour stopover in London and dropped by for cake! What a great day!

I recently re-read my birth story about Charlotte's birth. I originally posted it on a listserv that I frequented regularly in my early parenting days. Since this blog is my repository of all things Charlotte, I think this is the perfect time to re-post it here:

On the night of my due date, I couldn’t get to sleep. I tossed and turned for ages after I went to bed. I woke up at 1.30am with a wet feeling in my pants and rushed for the bathroom. The fluid was a steady stream and I was trapped hovering over the toilet. Every time I moved, there would be another stream, there was no way I could get back to the bedroom to get a sanitary pad without getting it all over the carpet. I hung around in the bathroom for long enough that I eventually woke M up (ok, I knocked over a few things and generally made quite a bit of noise until he had no choice but to get up). Got myself a pad and fresh pants and hoped to get back to sleep. Pretty soon I had some mild crampy-ness in my lower abdomen. It was about 2.45am when this started and based on my previous labour and delivery, I was expecting that this would go on until at least the morning. I was hoping I might have a snooze in the meantime because I was a bit bummed that I had only slept for about 2 hours so far.
After about 3 mild contractions, they were getting stronger and my breathing (complaining) alerted M that something was up. He couldn’t sleep anyway and we chatted for a bit. He noticed that each contraction was a minute closer than the previous one had been so he decided to get up and do all the last minute things that he should have done the week before. He re-hung the bathroom towel rail, took some baby stuff to the cellar for storage, made himself some cereal and a coffee and took a shower. I told M I wanted to make his coffee (that’s my job in our weekend breakfast rituals) but he wouldn’t let me. He knew I just wanted to tell people that I made my husband a coffee when I was in labour! Meanwhile, I was wandering around, having more and more contractions in the bedroom, in the kitchen, on the toilet. I puked a couple of times and had a couple of really bad ones from time to time.
When the contrax were quite bad, I tried really, really hard to visualise them in a positive light: opening my cervix, bringing the baby down the birth canal. I was extremely fearful of the pain and I tensed up and closed up to try to prevent it. I also remember this vividly from my first labour. When I was visualising, it really did help to make the pain lessen. Either that or those contractions weren’t so bad. I told M he had to tell me to think “open thoughts” when he was holding me through them. He didn’t really get it and I think he felt a bit silly, but it helped me a lot so I told him so and then he was much better about doing it. So “open thoughts” was my mantra for each contraction. But sometimes I just begged “Please open!”
M wanted to text his sister to have her on standby to come over to look after Emily. I didn’t really see the point in doing that at 4am when we thought the earliest we might want her would be when Emily woke at around 6.30am. I didn’t want to be in labour with her around, wandering in and out of the toilet and moaning. At about 4.45am the contrax were really starting to get on top of me and I was thinking about getting to the hospital for whatever pain relief they might offer. My biggest regret with my labour with Emily was not going to the hospital sooner and labouring for so long at home in such pain. I asked M to get my notes out of the hospital bag to get the phone number for the labour ward and ask them if I could come in. He went off to phone and I heard him saying “my wife is in labour, she’s just puked, can she eat anything?” I’m thinking, “What the hell is he talking about???” “Tell them I want to come in for gas and air!” I yelled at him from the bedroom. By now I was sweating with each contraction and was kneeling beside the bed with my face buried in the towel I had fished out of the dirty laundry hamper when my waters broke (it happened to be a kids hand towel with pictures of ducks on it).
Thankfully, the labour ward weren’t too busy and they said I could come in. My contractions were coming closer together all the time. They had gone from 10 minutes to 3 minutes in the space of about 5 contrax. M phoned a taxi for his sister, she arrived, the taxi was waiting outside for us, we ran outside, I had a couple of contrax in the street. I asked M to double check that he had re-packed my notes, he hadn’t so he ran inside to get them while I stood in the street having contractions. Eventually, I could crawl into the back seat and kneel there. I had contractions all the way in the back of the taxi (still clutching the duck towel). We arrived at the A&E entrance of the hospital and were offered a porter with a wheelchair to take us to the labour ward. This guy pulled a wheelchair out of a cupboard and said, “there you go.” No way could I sit down, so I knelt on the seat and M pushed me backwards down the endless corridors to the lift. Thankfully it was completely deserted at about 5.30am and my horror at the porter not taking us was lessened by the fact that he would never have let me sit so unsafely on the chair. There was someone else on the lift with us but I was way past caring whom I moaned and screamed in front of. We got to the 5th floor and waited an eternity to be buzzed into the ward.
There was another couple in triage area of the labour ward but she was just lying on the bed with a fetal monitor strapped to her belly. No way was she in labour. (That was me 2.5 years ago, thinking I was in labour - sorry luv, you ain't seen nothin' yet!) The midwife was ready to check me for dilation and I was hoping desperately to be at least a couple of centimetres. I was a model patient: I refused to lie down on the bed, I wouldn’t wear a monitor, I wouldn’t open my knees, I was still clutching the duck towel like it was my childhood security blanket. Luckily she was a very bossy Caribbean woman who was clearly used to dealing with unco-operative mothers-to-be. When she checked me I was... 7 CENTIMETRES!! Woo hoo! I had only been having contractions for 3 hours! My first labour took about 24 hours to get that far.
I got off the bed saying “I want gas and air, I want an epidural, I want everything”. The midwife chuckled and told me to walk to the delivery room then I would arrive ready to start pushing. I got to the delivery room and got started on the gas and air. The midwife went to find the delivery suite midwife. Before she left, I told her I wanted to push and she told me I wasn’t allowed to.
Gas and air is a wonderful thing to me. It completely takes the edge off the contractions and makes them bearable. I had 3 massive contractions and the urge to push was overwhelming, I kept saying to M, “I’m not allowed to push, I’m not allowed to push.” They were getting to the point where they were getting on top of me again and I would be asking for the epidural asap. The midwife came back(same one) and said she would check me again. She didn’t even examine me properly, she just took a glance and said flippantly, “OK, you can push if you want. Your baby has blonde hair.”
I was so excited that I was fully dilated. Clearly, those last contractions were the baby coming down the birth canal of its own accord. Then the midwife told me I had to put down the gas and air. I was so devastated by that. I told her I wouldn’t. She said, do you want the pain to be over? I told her I would keep the pain and keep the gas and air. She said it would be too distracting for me and I told her I was good at multi-tasking. She was so good with me: patient and bossy!
The pushing was really hard, it really hurt and I felt quite discouraged. In reality, it was very short (11 minutes, according to my notes), but it was a lot longer than Emily’s ventouse delivery had been. I was feeling burning for what felt like ages. At one point she went to get the mirror and I couldn’t bear to look as I couldn’t handle the thought that the head was not half out and the pain was already so bad. Eventually the head came out, the shoulders were painful too and then it really was over.
The midwife dumped her on my belly and we all said hello to each other. M called the time (06.51) and cut the cord. Then the midwife lifted my shirt and put her on my breasts, she started rooting around, found the nipple and started sucking.
I was elated at how fast it had all gone, I had suppressed my fears of another awful birth experience and expected that I would just get through somehow. I don’t feel like it was a wonderful experience and would never advocate that every woman should do it, I just feel like I got off lightly and am wholeheartedly relieved. I’m so instantly in love with her, even though I barely know her. I don’t know if it’s a better birth or the confidence of knowing what I’m doing the second time around but it is all so much easier and more enjoyable this time.

First Birthday Celebration!

Today we went to Harrods to get Charlotte her very own Harrods teddy. Emily's favourite familiar is a Harrods teddy and she was allowed to bring him along too. After we selected the teddy, we stopped in a café to have ice cream sundaes and Charlotte opened her presents.

It was pretty low-key but I didn't want to try to have too much of a party. She doesn't have any baby-friends because I don't take her to any baby groups (second baby!) and because her birthday is on Tuesday we won't be able to have a celebration with the family. I love to bake so I will make her a cake to have at home in the afternoon and, as a celebration, this was a nice outing to mark a special occasion.

Sunglasses tally

I feel like I should keep a record of the sunglasses that we have been through. We keep losing them because Charlotte likes to throw things out of the pram and if we don't notice... bye bye sunglasses.

In order of appearance:

1. Heart-shaped, white frames with heart pictures

Image: too horrifying to photograph
Cost: £0.00 (gift for Emily)
Source: belong to big sister
Reason: they were the only damn things that had short enough arms that when she was lying down in her stroller they wouldn’t get pushed forward off her face.
Review: Lots of smiles and stares in the pram. Very embarrassing. “No, my baby is not wearing these because I think it is funny, she is wearing these because we don’t have anything else that fits right now!”
Current status: Unfortunately, we still have them, they sit in the medicine/sunscreen basket.

2. Toddler sunnies, orange/pink with butterfly pictures


(This is Emily, not Charlotte)

Cost: £0.00 (These belong to Emily)
Source: Local pharmacy in Shoal Bay, Australia
Reason: She would keep these on better than the Baby Banz
Review: I love these sunnies, they look great! They are Emily’s proper sunglasses right now. But, despite the mirror coating, they are not that dark. Besides, they were clearly too big for Charlotte as a baby. When she is older and Emily has outgrown them, they will be saved as a backup pair.
Current status: Emily still owns these

3. Beaba baby sunglasses, beige

Cost: £11-ish
Source: online somewhere, probably Amazon
Reason: She was still rejecting the Baby Banz and these were the only style I knew of that I hoped might be small enough to fit her face closely but with actual arms instead of a band.
Review: I was never particularly sold on these. Charlotte accepted them fine but the fit wasn’t very close to her face. I think the shipping messed them up a bit and they always sat crooked on her nose. I could never get them to straighten. They were a reasonable level of darkness but there was so much light leakage around the sides that I moved straight on to really working on getting her to accept and wear the Banz. I also wasn’t very keen on the colour, beige should be a nice neutral choice, particularly since she is wearing them in all weathers, but they just looked a bit blah.
Current status: In the hall cupboard as a last, last resort emergency pair.

4. Baby Banz, aqua


Cost: £10.37
Source: Amazon (given in Christmas stocking)
Reason purchased: Couldn't find the pink ones in the baby stuff in the cellar. (Found them about a week later - of course.)
Review: Good for wraparound qualities but not that dark. The band takes a while for them to get used to (see above failed sunglasses appearances) but once she got the hang of it, it didn't bother her so much and she would keep them on. The band is bad for wearing with a hat, either summer (very important for us) or a winter wooly one. I also hated the red marks the frames left on her face.
Bonus points: if you can get the band over a wooly winter hat, they look like a way cool snowboarder!
Current status : Unknown. They were thrown out of the pram on the school run, I scoured the pavement on the way back and the next day. We even enlisted the help of the upstairs neighbours who were on their way home, but no luck.

5. Baby Banz, pink

Cost: £0.00
Source: inherited from big sister
Reason: bought for Emily as a baby for Aust trip
Review: see above for Aqua colour.
Current status: We still have these, they sit in the pocket of the stroller as an emergency spare.

6. Julbo, Looping I, Pink/grey


Cost: £24.94
Source: Little Trekkers
Reason: One morning Charlotte tossed the pink Banz out of the stroller. Martin was with her and phoned to tell me what happened but he didn’t phone me back to tell me that he had gone back and scoured the pavements and found them. (He's very thorough.) He never in his wildest dreams imagined I would have been so efficient as to have ordered another pair within an hour! I had them in mind for ages, a friend recommended them to me. I wasn’t going to buy them immediately but when the need arose, I was there, clicking away with the mouse.
Review: these have been my favourites to date. The lenses are extremely dark, 95% light blocking, the mirror coating helps. The frames are durable, comfortable, attractive and close fitting. Moorfields and RNIB even stock these frames for their custom lenses now. In fact, the pair that I took to Moorfields were these ones. Again from an earlier post where they said they wouldn’t be able to produce anything better than them at present.
Current status: Lost. I am sure these came home with me a few weeks ago but I have not found them since. There were a few scratches on the mirror coating where I think Charlotte had a bit of a gnaw on them but they were in otherwise good condition and they were expensive so I am very sad about that.
Update: Found tonight! In one of Emily’s toy handbags. Everybody in the household denies putting them in there. At least now I can wrap the Julbo IIIs she is getting from my Mum for her birthday (see below).

7. RNIB amber lenses in Julbo Looping II frame, blue/green


Cost: £22.xx
Source: RNIB
Reason: I was reading more and more about Achromatopsia (even before her confirmed diagnosis) and thought I’d better get Charlotte some more serious eyewear. But the cost put me off a bit. Then I was talking to Michael who said that amber coloured lenses really helped him with contrast. So I ordered them. Lucky I did, because they took ages to arrive and I had to chase them multiple times. Having said that, I didn’t pay their invoice for ages because I am not used to being invoiced for things and having to send a cheque. (Says the online shopper with a credit card habit)
Review: We have only just started using these in the last week (since the mysterious disappearance of the Julbos). They have been a bit too large and the lenses aren’t that dark. Charlotte seems to really like them though. They are great for cloudy days and indoor on bright days. I like that I can see her eyes through them, which I can’t with the mirror coated ones. When I look through them, they definitely distort colours and shades into simple light and dark. I don’t know if this is completely beneficial to Charlotte, I’ll have to see how it compares to the red lenses (up next). I think that Charlotte’s rods work better in the dark areas which the amber lenses just merge into shadows. I can see that they would be very helpful to someone who has vision which is mostly just light and dark shapes because they make the lights brighter and the darks darker which is obviously good contrast. Privately, I have also been avoiding these ones a bit because of the blue frames which are just so boy-like. I don’t think I am too gendered in their clothing but these are different, they cover half her face and she wears them all the time.
Current status: Perfect second pair. I think I might order a pair of yellow ones for indoor when she is a bit older.

8. Julbo Pop Toddler, Rose


Cost: £20.14 on sale (but Mum bought them as a birthday gift for Charlotte)
Source: Little Trekkers, of course!
Reason: Sad loss of Julbo Is. I decided to upgrade a size and these were cheaper than the Julbo Looping IIs.
Review: They are the same lenses as the first Julbos so that’s great: really dark, mirror coated. The frames are a bit of a strange shape though and the colours on the frame are a bit wilder/brighter than the first pair. I wouldn't get them again because the Looping styles really are better: they don't have hinges on the arms and you can't put them on upside down (which happens more often than you would think).
Current status: Was going to be her primary outdoor pair until the return of the Julbo Is, now they will be spare until Is are lost again or outgrown.

Coming soon:

9. NoIR Dark Red 4% in infant size (£49.94)
UK stockist: Optima
I have high hopes that these will be her regular outdoor glasses. Of course, I will be posting their own special review. But they won’t let me choose the colour of the frames! For £50 sunglasses!!

Other sun protection purchases:

Universal sun shade for pram: Shade-a-babe (£35.00)
Great sunshade, I move it from pram to pram and she really likes it. I hate how it hides her away from the world though.
Sun tent: Nivea (£26.90)
I thought we would use it on holiday and in the garden but I never do. It’s hot inside and very bright. I can usually always find shade instead.
Hats: £0.00.
Emily had tons. I am really aware of sun protection and we have been to Australia regularly enough that she is kept in a good supply of sun hats and swimming hats that have all been handed down in due course.

Total purchases:

Sunglasses: £138.39
Other: £61.90
Grand total: £200.29

That’s not so bad really. In light of the fact that our medical care is completely free and I am being seen by a wide range of specialists, we really aren’t shelling out that much money. A Paediatric Ophthalmologist charges a standard £205.00 per private consultation and we have seen one three times on the NHS. I should add up the market value of the NHS-paid care we have received. Wait until the genetic testing bill comes in!

Crawling cutie!

Charlotte started crawling this weekend. She has been at it almost a week now and is finally getting the hang of it. She looks so adorable, crawling away from me with her bum wiggling from side to side! I've never had a crawler before - Emily was a bottom-shuffler. Emily thinks Charlotte is hilarious and they were so cute this evening, crawling along together. She doesn't think it's so hilarious now that Charlotte can get into her stuff. We have to work on having Emily doing unsuitable-for-baby things on tables and distracting Charlotte with other activities. She is just so darn stubborn, she has her father's stubborness and her mother's fiestiness - oh boy!

I have always had high hopes that mobility would give me better clues about the light levels around the house that Charlotte feels comfortable with. Tonight, she was quite willing to go through patches of the passageway that were quite well lit. I was really pleased because I expected she would avoid them. Maybe I can open the curtains a bit.

I am also hoping against hope that this newfound mobility will end the extreme fussiness and separation anxiety that has been going on around here for the last few weeks. Whenever I put her down, she cries instantly, then I pick her up and she squirms to get down. Actually, I think she squirms to get closer to what she wants to see and she wants me to take her there rather than put her down. Sorry kid, not going to happen, you're on your own now. Off you go!

New nanny

Charlotte and Emily have a new nanny as of today. I am heading back to work in a couple of weeks. The nanny was really good about spending time with Charlotte in a dimly lit room and really attentive to things like sunglasses when we went out. I just keep thinking how much I am going to miss them! At least it is only 3 days per week.

I also ordered a pair of NoIR dark red sunglasses today. I found the UK stockist: www.optimalowvision.co.uk I'll post back when they arrive.

Book review: No End in Sight by Rachael Scdoris

No End in Sight, My Life as a Blind Iditarod Racer by Rachael Scdoris and Rick Steber. I have to say, I enjoyed this book a lot. It is not going to set the literary world on fire but it is an entertaining read and the author's voice (even though it is ghost written) comes through loud and clear as a very likeable individual.

I was saddened by the chapters about her difficult time at school. I am a little bit hopeful that these were played up - in the name of overcoming adversity. I learned a lot about sled-dog racing. She has made some factual errors about Achromatopsia: the book describes it (twice) as a disorder of cones and rods.

I think I'll get a copy for Mum for her birthday - it's a far more interesting book than Oliver Sachs'. I wondered if I should send her a message via Facebook?

IVF?

One of the Achroma-Mummies that I know through Facebook mentioned today that they are considering IVF for the conception of a second baby. The embryos would be tested for the Achromatopsia gene before implantation.

M and I have talked about this before and I have always been adamant that I would not go through the rigours of IVF to avoid the 1 in 4 chance of having another Achromat. Am I in denial about the seriousness of living with this disease? If I was really baby-crazy, I wouldn't hesitate to try for another one. The odds aren't that bad and the condition isn't that bad. Plus, the family are already set up to deal with it: your house is already darkened, the sunglasses already researched, and they would grow up with a built-in playmate/buddy/understanding person around. As for medical treatment: in the UK, it is paid for by the NHS.

But am I looking at from the luxurious perspective of already having two children and not being broody?

Two philosophical questions:

1. Is it irresponsible to knowingly concieve a child who may require more medical resources than another child, knowing that these resources are going to be paid for by the taxpayer?

2. Is it bad of me to be more willing to submit our offspring to a possible life with Achromatopsia than to go through IVF and genetic testing of embryos? Am I trading my own convenience and expense for their future happiness?

I would be really weary of creating a designer baby, one of the biggest reasons is that nobody is perfect and trying to create the perfect child is sure to end in dissapointment.

At the heart of it, I feel like it is kind of disloyal to Charlotte and her peers, kind of like saying to them, "What you have is so terrible that I am going to go through all this time, pain, heartache and expense to avoid it ever happening again."

In the Night Garden...

...Live!

We took the girls to their first ever theatre experience today. Admittedly, it was the live production of a favourite TV show but it was still theatre, and it was well done.

The real intention had been to take Emily, then we decided to get a ticket for Charlotte too. It was cheaper than hiring a babysitter! She didn't really get anything out of the production and we would probably have had a better time with Emily alone, but I am pleased that we took her too. They had these light-up windmills that they were selling and the audience were waving them around. Of course we got the girls one each and they are a really good visually stimulating toy for Charlotte. I was also delighted to see her looking at the projection of stars on the ceiling of the theatre.

We talked about it and decided that we were going to take Charlotte along to whatever we would take Emily to. So off the Night Garden she went. Emily had a blast and I am so delighted that we did it. We'll take them to something at Christmas next.

I also got a lovely message today from one of the mums in the Achromatopsia Facebook group. She was telling us that someone that she rides horses with has Achromatopsia. I expect I will try to get Charlotte involved with horse riding if she wants to. They even offer it though the school!

Miscellaneous ramblings

I've got lots to write about today, sometimes I think I don't have anything to say but if I really think about it, I can usually come up with something. Today, I have lots of somethings.

Firstly: Charlotte and her injuries. It's still not normal and not right. I took her to the doctor yesterday. He was nice about it but didn't really feel that it was so serious that it merited further investigation. He recommended damage limitation and wait and see. That's ok with me for now. While it is concerning that she would rather do the action than avoid injuring herself, it could be a bad habit, it could be a way of stimulating her senses, it could be soothing and hopefully, it will just go away on it's own. At least I have raised it with someone and I don't feel like I should be doing any more right now. The Dr pointed out that if anyone is going to work with children with negative behaviours, it would be when they are older anyway. I am still going to mention it to every professional that we go to see and I am going to call her VI teacher about it again when the summer holidays are over. Also, it is good that I know about these sorts of injuries before the new nanny starts, it would be very disturbing to have random bruises and scratches appearing on my baby with a new caregiver in the picture. I'll have to talk to her about them when she starts (one more week - can't wait!)

I finally got up the courage to start going through Charlotte's baby photos in preparation for producing a baby album for her. I haven't been able to look at photos from her first three months. All I think about is how we were so happy and we had everything we ever wanted. Well, no one ever has everything they ever wanted and we are still happy now. One of the things that Martin articulated when all this first happened was that he lost the feeling that he had always had that life would only get better. I think we are back in a place where we do expect that life will continue to get better. We really do have it very good. Still, the photo viewing did make me sad. But I am looking forward to producing a nice album for her. Since no one has given me a nice album, I think I am going to get a photobook online. Filling it with pictures of a second baby is always a challenge - there are almost none of them alone!

I finally took delivery of another Achromatopsia-related book today. It is No End in Sight, My Life as a Blind Iditarod Racer by Rachael Scdoris and Rick Steber. Rachael has Achromatopsia and I'm looking forward to reading it. In fact, I have read about two chapters already, as I finished undoing the packaging - even though I was supposed to be making dinner. I'm going to sit back down to it as soon as I finish this blog post. I think it will be a pretty fast read and I'll post a review when I am finished.

A good article about Blind Football was published by the BBC today: http://www.bbc.co.uk/news/magazine-10914782 I don't know if I am more attuned to it now, but I do see mention of Blind Sport from time to time in the mainstream media. I guess it is one of the more intriguing things about blindness - most people know about Braille and guide dogs. I think it is good exposure and I really hope that we are going to be able to hook Charlotte up with sports associations in the future to help her build confidence and physical skills. Of course, if she wants to get out there with the fully sighted, that's fine too! I think I will be paying closer attention to the Paralympics, looking for blind athletes to point out to her.

The Yahoo Group has posted some early ideas about an Achromatopsia Conference that they would like to plan for next year. There have been a few in past years. It sounds like a good idea and I have been wondering if I can lend my event-planning skills in any way. Mainly, I am wondering if I can bring any money to it by finding willing sponsors or exhibitors for the event. I'm not sure, there are two companies I can think of who would be flogging their products and services to Achromats and they know they are already well known by the community so I don't know how much they would pay to get in front of them. Maybe to preserve exclusivity?
Sponsor types:
-Ophthalmologists
-Low Vision services
-Sunglasses
-Genetic testing services
Something to think about anyway. I wonder how many people they are expecting? I don't see us going but I'll follow along with their progress.

Mwah

Mwah, mwah, mwah. That's the kissing noise that Charlotte makes every time she sees me! It's so adorable! I think that is my name at the moment because she can't yet say "mama". It's because every time I pick her up, I kiss her, usually about 3 times!

She's still doing the stretching and tensing. It's not normal :(

School holidays are driving me crazy!

So much for enjoying the time at home alone with the two little girls. I can't wait for school to go back so I can get some peace and quiet!

I have no space to think, to do nothing, or to even walk around my house without stepping over, or tripping over a toy, dropped food or a child.

Only two more weeks until the nanny starts and then, thank heavens, I won't be on my own with them any more. I am bored, they are bored. We get out every day but I feel so aimless and I don't do well without a schedule and a plan.

I really liked the idea of unstructured time for them during the holidays. I think that they get too much schooling right now: too formal, too long, too young and I wouldn't have booked Emily into any school holiday activities this summer. But maybe it would have been a good idea because being at home with a mother who says things like "go away" and "I'm too busy" can't really be good for her. I am a bad, bad mother. Hopefully the teachers are better teachers than I am a mother and they will take good care of her when school goes back in September.

I think next summer some morning "camps" might be a good idea for some of the weeks. All her classmates seem to be at camp.

Not normal

Charlotte's tensing is really bothering me right now. She does it constantly. So much so that Emily has now started doing "ballerina feet" - she sits on the edge of a chair, crosses her ankles, points her toes and stretches her legs out. It would be very cute if it weren't so worrying.

I mentioned it to our Achromat-friend's Mum and she said that he used to do it too. I was so concerned that I phoned her over the weekend to talk about it some more. I wonder if it is a coincidence or if it is indeed related to their vision. He doesn't do it now that he is walking but he does keep some tension in one of his hands which is clenched in a fist some/a lot of the time. I hope she does mention it to Professor Cone because I would be really interested to hear what he has to say about it.

Charlotte does hers when she is excited, cross, bored, frustrated and many more emotional states. Everything except calm. I wonder if she does it when she feels visually unable to orient herself in space. For example: She does it on the swings and while she likes being pushed on them, it is probably a pretty strange experience if you can't see what is going on around you but you know you are moving all the same.

We went to another Osteopath today. The one last week was too far and I had to pay for 3 hours of babysitting for Emily just to take Charlotte. For a not for profit, it ended up costing me over £60 which is a bit steep for something I am not even seeing a difference in. There is a college locally and they offer a free children's clinic so I took Charlotte along to that. They were very nice but they don't do cranial-sacral which is what I wanted. I should have asked but because they are students, they aren't able to do it. So I think I'll stop with the laying on of hands and wait for her to start walking. In the meantime, I'll mention it at the next round of Drs visits coming up in September.

I feel a bit like I have Munchousen Syndrome by Proxy. I feel like I am getting all this attention by having a "sick" baby. Nothing is simple when giving a medical history and the list of practitioners that I take her to is long.

Separation anxiety

Charlotte is at the age where she is experiencing separation anxiety. When you don't experience something with the first kid, it seems harder when you do experience it with the second kid. Charlotte's separation anxiety may be worse than usual because she can't actually see me across the room. Every time I sit her down on the floor she starts to cry. This is probably because she thinks I am going to leave her on her own. She is probably right. I am trying to talk to her the whole time I am not right with her and also to sit her down and not leave her on her own every time. I am sure that this will pass, it just feel like forever when in reality it has probably been two days. Funny how they have to become less independent in order to gain their independence.

Row, row, row your boat

The two little girls were so cute in the bath today! Emily was playing with Charlotte really nicely. She mostly just ignores her so it was lovely to see. I see Charlotte looking at Emily with such adoration in her face that it melts my heart. She has to be pretty close for her to see her and I was a tiny bit heartbroken when I looked over the photos that I took and saw that Charlotte wasn't really looking at the camera. She was focussing slightly above and her eyes didn't seem to both be pointing in the same direction. Nevertheless, she was adorable!

The laying on of hands

I took Charlotte to a Paediatric Osteopath today. It wasn't for her vision, but as it always does, it came up. It is part of her whole wellness and general health and it does come up when I am giving a medical history. It really came up today because I started talking about the raft of people that we see in our day to day lives: Developmental Ped, OT etc. I was going to mention the vision at the end of the history but, as I said, it came up anyway.

The reason I took Charlotte to the Osteopath was because she has been tensing her body ever since she was an infant. She makes her limbs go rigid and holds her breath for about a second or two and then releases. I say "she makes..." because it is somewhat voluntary because if you hold her feet apart where she can't cross them to get any traction, she won't do the tensing.

I spoke to my friend, a Health Visitor about it over the weekend and she recommended it. I have shown the Dev Ped her doing it and he wasn't particularly worried because he said it's not a seizure. I asked Harvey's Mum if he does it and she said he used to before he was walking. I wondered if this was more coincidence than vision but you never know. I should mention it to the Ped Opth the next time we go.

So we had the laying on of hands for Charlotte, I'm not sure if it's going to make a difference but we will go back a few times. It's worth a try because she is really starting to hurt herself doing it: she is getting bruises between her knees, red patches on her feet and scratch marks on her arms from her opposite fingernails. I feel dreadful, is there something really badly wrong with my poor little baby to do this to herself?

New website

Less than a week after I posted the web resources below, I checked out the Yahoo Achromatopsia Group and found a new website from the Low Vision Drs in Indiana. The info is pretty good and I have added a link to the sidebar. Of course, it is a sales exercise for their services so I have to view it with a filter (HA HA!) but it is working on me - I've even looked at how to fly to Indianapolis from London. But, I confess, I did have to look on Google Maps first to find out where on earth it is. I'll have to go back and see what the members of the discussion groups are saying about it. But that will have to wait for another day, I have stayed up way too late as it is.

My favourite web resources

As I was compiling a list for a friend of a friend, I realised I haven't got all my info written down in one place. So here goes:

General web stuff: Wikipedia, You Tube, Facebook, Yahoo Groups
Specialised Nystagmus Networks: America: www.nystagmus.org; UK: www.nystgamusnet.org
Blind Charities: RNIB: www.rnib.com (info on eye conditions is good); USA: www.afb.org (forums are extensive and searchable)
Blogs:
http://theshiftyeyesblog.com/
http://mikehughescq.wordpress.com/2009/09/20/nystagmus-oh-you-mean-like-astigmatism/
http://nystagmusblog.co.uk/
http://nystagmusandcones.blogspot.com/
Forum (this one seems to be the most active for Brits)
http://www.nystagmus.co.uk/forum/index.php

Disability: http://www.schuylersmonster.com/presskit/P101_perfect_child.pdf
(because the other article that does the rounds - Welcome to Holland - is rubbish!)

Achromat "playdate"

We met our first other Achromat this week. Harvey came over to play with Charlotte at our holiday cottage. It was so fortunate that we were on holiday there, otherwise we would have been quite unlikely to have met up with them. His Mum brought him over, he is just over 1 year old. He wears his sunglasses almost all the time and they have a prescription in them too. He was toddling fine, I kept the curtains drawn and they got on well. They are both at that kind of annoying age where they just swat at each other, rather than play with anything. But it was nice to meet another kid with the same condition. His nystagmus is the same, but he looks up to focus and I think Charlotte's preference is down. His mother is really nice and it was lovely to talk in person to someone. We are going to make a plan to meet up again - logistically it is not that easy though.

No new sunglasses

I went to Moorfields yesterday to try and get some even better sunglasses for Charlotte. They only prescribed 20% instead of the 4% that I had been reading about. The woman said that 4% would be almost like darkness. Yep. She said I should stick with the ones I have right now.

I am thinking of mail ordering some from the USA which a lot of people on the internets are raving about. They are $77.00 though, presumably before tax and shipping. I don't think they will offer a good enough fit at this age.

She was enjoying her amber ones when we were out and about in the pram. It was an overcast day so I left the sun shade open.

When in doubt, be normal

That is a good motto for us, one to remember at all times. The best thing we can give Charlotte is a normal, happy childhood. When I am looking for nannies, I wondered if I should disclose Charlotte's "extra needs" in the advertisement, but I didn't, we aren't looking for a nanny of special needs children, we are looking for a normal nanny for normal children, one who is particularly caring and attentive. I met somebody lovely last night and I am definately inviting her back for a second interview. I have three more to see and I will hopefully be able to invite two of them back.

I have also heard from Moorfields about sunglasses, they have the recommended tint from the Opth team (20% light - which I don't think will be dark enough) and I have to go and choose frames. I'm going to go on Tuesday next week. We are all so sick this week that my 10 visit Bikram Yoga card is going to expire.

Occupational Therapy and new sunglasses

We finally, finally, finally received the sunglasses from RNIB which I ordered about a month ago. Heaven forbid she lose some and I ever need more at short notice. After I placed the order, a friend told me about some called Julbo which I thought I might keep in the back of my mind as a backup high street pair. Then she lost one pair of Baby Banz (threw them out of the pram), then Martin called me yesterday morning to say that she had thrown the second pair out of the pram on his way to the bus stop with her. He retraced his steps all the way home and didn't have them with him. So I raced online and ordered the Julbo ones: the RNIB ones hadn't arrived, she'd lost two pairs of Baby Banz in two weeks and we were down to the Beaba ones and Emily's toddler ones so I thought I'd better make it a priority. Then, in the mail appeared the RNIB ones and they were Julbo brand too! Then Amy told me that Charlotte had her pink Banz with her and Martin had found them but not told me. Oh well, the other Julbos arrive tomorrow and are 96% light blocking which is more than the RNIB ones. (Plus, they are a more girly colour!)

The RNIB ones have amber lenses. They certainly make everything look a bit strange. I guess it won't bother Charlotte because she doesn't have any colour vision anyway. They certainly increase contrast but they don't seem to increase anything beyond making lights lighter and darks darker. I don't see an improvement in detail. I haven't taken them outside and looked through them myself yet. They also don't fit very close to her face so she is not getting any light-blocking advantage there. I can see her eyes through the lenses so they probably aren't dark enough. I'll be interested to see how Charlotte reacts compared to the regular Julbo which are darker but with grey lenses. We are having our summer this week so we have really sunny days and she is a bit unhappy.

We had Occupational Therapy today and Charlotte is still on track. The OT's summary is that she doesn't think Charlotte's vision problems are holding her back developmentally. This is great news. We are going to see her again in October for ongoing monitoring but so far, so good. Yay!

I've also been reading some interesting things about genetic research this week. I read any reports about genetics with far more interest than I ever used to. This particular news report was referring to common ailments such as heart disease but the point that stuck out at me was the progress that has been made in the human genome project in the last 10 years. It is almost unfathomable and bodes well for equally impressive progress in the next 10 years.

Childcare: to tell or not to tell?

My dilemma today is in the placement of an advertisement for a new nanny. I am going back to work in September, 3 days per week, and I am advertising next week for a nanny.

In drafting the ad, I am thinking about who I want to care for Charlotte. On top of all the usual concerns over finding someone caring and competent to look after my children when I am not with them, I have this extra layer of concerns of what Charlotte may need. Or may not. She is only a baby and not mobile and I don't really have a very good sense yet of how "special need-y" she may turn out to be.

My instinct is to treat this as a normal recruitment process and talk to the person about the extra care she needs at the interview stage. Sort of as a "By the way, she needs sunglasses on when she goes outside". What about the curtains drawn part? Am I recruiting someone for a job where I am requiring them to spend most of their day in the dark? I don't like doing it and I am Charlotte's mother, how can I ask someone else to? And how can I not ask them to? Maybe it will be good for Charlotte to have a bit of a middle ground lighting level around the house. There will also be breaks for the nanny: when Charlotte has her nap, during the school run and when Charlotte is playing by herself in her room, those are all times that the nanny doesn't have to be in the dim lighting. During the winter, as long as she doesn't turn on any lights, she probably won't have to draw the curtains.

What about reciprocity? If I don't disclose Charlotte's medical concerns whereby they affect the nanny's working conditions, I should not be surprised if a candidate were to not disclose something about herself that may affect her ability to do the job too. Am I setting a bad precedent for Charlotte in her future life applying for jobs and such?

At the end of it, I'm not that concerned about finding someone good, but it does add an extra layer of complexity to everything.

Another mother

I had a great conversation on Tuesday with the mother of another Achromat-kid. She is a member of the Facebook group for Achromatopsia. I had messaged a different one but we hadn't spoken on the phone. Instead, I spoke to Louise. She seemed really nice and hopefully we might be able to meet in person one day soon. Maybe I am an over-contacter but I feel like talking to her every day!

Sunglasses from Moorfields?

I have an enquiry outstanding with them at the moment to prescribe some sunglasses for Charlotte. Apparently they have quite the low-vision centre there. It is so wonderful to be living so close to such a world-class facility - and I am so grateful that the care we have recieved is at no charge to us. I am extremely grateful to the NHS, I have to admit that I would not have taken Charlotte to as many different health professionals as I have if we were paying for all this care.

The sunglasses idea came from another mother of an Achroma-kid who said that they went to the optician at Moorfields and came away with some sunglasses. I hadn't bothered because I knew I had shopped quite extensively on the high street but I thought they might be able to help me with the required darkeness and hopefully a red tint. They have to ask Prof Moore's team what they recommend for Achromats, hopefully what they recommend tallies with what they have recommended themselves online.

Poor sick baby

Poor Charlotte is poorly today. She has her first fever and isn't feeling very good. She isn't responding that well to medicine either but she is a little trooper and is still very sweet. We were supposed to take her to a birthday party today but I left her at home with Martin and just took Emily in the end. Hopefully she will pull through soon.

Baby-friends

Today Charlotte went to a party of her one and only baby-friend! When you have one child, you join all the mother's groups around and take them on a baby-related outing every day. When you have subsequent children, you just take them around with you while you do the activities that the older one is doing. Hence, Emily had loads of baby-friends and Charlotte has one, and that one is only because a friend of mine lives reasonably locally and had a baby a few months before Charlotte was born.

It was really cute seeing Charlotte on a rug surrounded by other babies and having them all tumbling around all over each other. She didn't have a clue what was going on but I guess none of them did!

Blind as a bat

She really is. I don't say it in a mean way and I know she can see a lot, but Charlotte's blindness is becomming more apparent to me as time goes by. I wish I could keep her as a little baby forever and then it would be normal for her to be completely dependant on me. I am going to struggle to move her toward independance as she gets older.

The lights and things that the low vision teacher recommended don't seem to be holding her interest very much any more. She does play beautifully with toys in her close range, she'll happily sit for ages. Her standing is coming along really well and I tested her on it the other night, she was happy to let go with one hand to reach for a toy.

Many of the fears I first had about having a blind child will not come to pass: she won't walk into walls, she will be able to read, she will be able to be independant and mobile and that is all such a gift. But we always want more, don't we?

We have found a wonderful school that I am hopefull the girls will be accepted into. When I say "we have found" that's not really true because lots of people know about it. It is the best school in the country, consistently ranked no 1 in the league tables with 100% of their graduates attending university, 40% of them to Oxford and Cambridge. The founding mission and driving ethos of the school is the thing that impressed me most (more even than the extensive gounds and facilites): it intends to provide an ambitious academic education for women. That's what I keep reminding myself, particularly for Charlotte: aim high (little bat!)

Obvious differences

We saw Charlotte's little cousin yesterday. We get so used to her that we forget just how different she is from other babies. Conrad can see across the room with no problems, Charlotte doesn't bother to look at anything further than arm's length from her face and nothing at all when it is bright. I feel guilty, I feel as though I should spend more time extending her vision. I guess I should stop making excuses and just do it. She's just so content playing with things up close and I figure the rest will come in time.

Something positive that happened yesterday: one of the mothers from Facebook contacted me by phone. I didn't have time to talk but she said I can call her next week.

Their own room

The two little girls are in their own bedroom now. They are sharing for the first time tonight so we will have to see how that goes.

Last night was the first night that Charlotte was in the children's bedroom but Emily was away, at a sleepover at Amy's house, so they weren't together.

I was in pieces last night, it felt like my babies had grown up and left home! I can't believe how quickly they have got older and I realise how little they will want us in their lives through their teens and twenties. I'm going to miss them so much. Motherhood is so cruel: it requires us to lavish on them all our time, attention and energy for years, and then be cast adrift as our children reject our efforts to be close to them. And we wonder why mothers of older children have no life of their own? It's because caring for younger children requires us to have no life of our own.

I guess all this makes a good case for me to go back to work. One of the reasons I have always enjoyed working is becuase it gives me something to do and because I don't want to have nothing left of my own once the children don't want me around so much. On the other hand, if I give up work, I will just go to the gym instead!

All this being said, if and when Charlotte (in particular) insists on her independence, we will have done our job well.

Review: The Island of the Colourblind by Oliver Sacks

Well, I wasn't blown away by this book and I don't even know if I would recommend it as a good read. I have to say I enjoyed the Achromatopsia Network books far more. But that is probably because they gave me information about Charlotte and that is what I am looking for right now.

The journey to the Pacific islands is portrayed enthusiastically and he gives a good overview of subjects as diverse as biology, botany, geology, history and Darwinism. What I wanted to read about were more personal accounts, even from Knut. But it was good to read about an outsiders's perception of Knut because many people with a condition may feel they are normal but not act like it to our way of thinking.

It's a very short book, the publishers have had to bundle it with another just to create enough pages to bind a book.

I don't think I'll be reading other Sacks' books, there's enough genetic curiosities in our lives to prevent me from being interested in reading about others'.

Genetic counselling

I heard back from the Genetic Counsellor at Moorfields today, the update is that if we were to get genetic testing done privately we would need to go and see one of Prof Cone's colleagues privately and then also pay for the testing. It's kind of what I expected. We had discussed it and decided that we were happy to wait for a suitable time to test her through the NHS, not because we don't want to spend the money but because we don't feel that this is so urgent that we need answers.

Some things to consider:
1. If we decide we want another baby, we probably want the testing because it might not be Achromatopsia. Having another baby is not high on my priority list but you never know how my feelings might change in a few years time. Charlotte is so wonderful that I would have 100 of her and I don't really care about the 1 in 4 odds. But if it was Leber's, or if Charlotte really starts to struggle, I might care more.
2. I will go to the GP Practice Nurse to have Charlotte's Swine Flu vaccine done. Then I will ask her at what age she is comfortable drawing a blood sample for the genetic testing (they only need 4ml). Then I can arrange with Sophie for the equipment to be sent out and the sample analysed. I'm thinking this process could take 2 years, one for Charlotte to be old enough (about 2yrs old?) and another year for the sample to be tested and the results to arrive.
3. If a treatment is developed, testing will become a priority if Charlotte is to participate. Patients would need to be tested before any gene therapy and I'm imagining that the NHS would therefore have everything set up for us to be tested quite quickly.

Then I asked Sophie what her opinion was about Charlotte's ability to benefit from any future treatment, given the time it might take for something to be developed. She was very optimistic and said that once something gets good results in animal trials, it can progress quite quickly through human trials. I said that I imagined Charlotte might be the last of the Achromats and she said no, that would certainly be true for the 10 year old patients that they have but not for babies.

Fingers crossed/hope and pray for fast, accurate, successful trials...

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.

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.

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.

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?

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.

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?

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.

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!

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.

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!

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.

Who likes to look into the sun?

Answer: Charlotte.

This kid is such a mystery to me! We went out today and she was in the baby carrier. I had a sunhat and sunglasses for her instead of the usual buggy sunshade. She stuck her face straight up into the sky and peered at the sun from under the brim of her hat. I took her glasses off when she was asleep and when she woke, she wanted to stare at the sun again. I guess she was wondering what that big, pretty light, a long way away, was. So strange that she wasn't photophobic about it. It makes me wonder what sort of diagnosis we are heading towards.

Using my rods

I had a really interesting rod-related experience last night: I went into our darkened bedroom and was looking for something on the floor. I couldn't turn on a light because Charlotte was sleeping in there and there were lots of things lying around on the floor.

I saw three unfamiliar dark objects lying there and I was trying to work out what they were. I realised two were Emily's navy slippers and one was my navy eye mask. But when I looked directly at each object, it seemed to dissapear. I could see the outline but no detail. When I looked at a different object, the detail came back in my peripheral vision. The slippers have white pictures outlined on them so they were particularly obvious in losing their detail.

It was the first time that I have seen my own blind spot in rod vision. I spent quite a long time flicking my eyes between each of the three objects and noticing how the details dissapeared from my central vision and appeared only in my peripheral vision. It was frustating to have to try and see the object without looking at it. I wondered if that was because my brain is trained to look direct and Charlotte's eyes will train differently so that she is using her peripheral vision to look at details.

The light was also very dim which made it really difficult to see. I wonder if Charlotte will be able to use her rods more effectively in brighter lighting. Mine could only operate that fully when the lights were so low because otherwise my cones would have started working.

The whole exercise was very illuminating (pun intended), but also quite upsetting.

New accommodations

Ever since I was told that Charlotte would see better in dim lighting, I have realised that she is going to need her own bedroom. We are in a 2 bedroom flat and I was going to have the girls share the second bedroom. It is large enough and has a huge window with a Southerly outlook. It's a really lovely room. What a shame.

I've looked around at what is available in our neighbourhood, on our budget and it is pretty depressing. Everything with a garden is a basement flat and we would have to give up our gorgeous living room with its 12 foot ceilings.

We are now investigating building a basement level below our flat and putting bedrooms on that level with all the living areas on the ground floor. It is quite an exciting idea, but hugely daunting too. We had a preliminary meeting with the neighbours today and they were very guarded in their response. I have permission to contact the building company and have them around to discuss what is possible and get a quote. After that we have the hurdles of planning permission, finances and the neighbours.

But if it all comes together, it would be a great flat and we really can't imagine living in a better location than this one.

Little Charlie will have her own, very dark, basement level, North-facing bedroom. I want to make it a space where she can retreat if she feels like it is all too much for her, if the lights are too bright or if she has a headache. She can set up any special computer equipment or reading aids that she needs. I might be going overboard but I was thinking of painting the walls matte navy with one wall with navy and white wallpaper. The ceiling and furniture would be white, the carpet would be taupe and the bedlinen would be large stripes of navy and white. I would have a chandelier with lots of sparkly crystals (on a dimmer) and maybe a lamp the same. I'll have to check with people who only use their rods to be sure this would work for her but I think it's a pretty cool idea.