Eye Appointment And A New Diagnosis

W had another check up at the eye hospital this week. It should have been in early August, but there was some sort of problem at the hospital and the week before his appointment in August we received a letter informing us that a new appointment had been made for November - quite a wait in my opinion.

The appointment is the usual round of having eye drops, looking at the eye test charts ( bold black letters in a block of 4 or 5 which the practitioner is holding) and W holds a piece of card with the same bold black letters on, and he is asked which one the person is pointing to, and he has to point to the same letter on his card.

The letter size he can see, from a distance of three metres is fairly large, around 6 inches. When he moved down a size, where the letters were around 4 inches big, W couldn't make what any of them were, apart from the 'X', even from three metres away. W got frustrated that he couldn't answer them, but I told him it was fine, and that he didn't need to guess if he couldn't see them. He said it was " all confusing as they don't look like letters" so I asked W what they looked like to him, and he replied, " they look like lots of black dots". 

We were asked again to take part in the study that his consultant ophthalmologist (Mr S) is running ( he is doing this study as a side to his regular work at the hospital, as he has a keen interest in nystagmus). This time around W had to look at a computer screen and look at a dot. They then took a photo of me, and uploaded it to the programme.
W then had to look at the photo of me on the screen, whenever it flashed up. The lasers were detecting how long it took his eyes to 'see' the image of me.

We then go back to have the back of his eyes photographed ( I blogged about this from our last visit there, and how the area Mr S needed to see was literally millimetres off of the photograph. You can find that post here - Unintentional Comments and Eye Appointments
This time the photographer manages to get a good image for each eye, and I am mightily relieved!

Our final port of call is when we see his consultant, Mr S.
He looks into W's eyes and confirms his lens prescription for his glasses is adequate and no change  is needed.

Mr S views the images taken earlier, and looks at the swab tests he took earlier in the year, and confirms his suspicions that W has a genetic condition called oculocutaneous albinism from the tyrosinase gene.
I had thought he had ocular albinism (as I blogged about before) but Mr S said it was in fact the aforementioned form of albinism. It is a long held misconception that albinism only presents as incredibly fair/white hair, with pale skin. He said people can have brunette coloured hair and still have O/A.
What this means for W is that he has an inherited condition that could impact on any children he has.
This also means my other child, O, can be tested ( my eldest J, who has the severe autism and learning difficulties is excluded by my choice as he will never be married or have children) as he will need to be aware of any genetic condition he could pass down.
Mr S did tell me how the odds work, and that both myself and the boys father will be carriers, or maybe even affected but unaware, and so we are to be tested too.

I have always had comments passed about my fair skin and how pale I am against other people in my family. Photos of me with other people always highlight how pale I am!
It may well be because I too have O/A, but as my eyes are not affected as such, it was never suspected.
All of my children are dark blonde, and I was very pale light blonde as a child. Another clue maybe?


I have had a few days to try and digest this news, and have been on Google trying to learn more about it.
I must say that right now I feel quite emotional about it all. That I may have passed a genetic condition on to my children, and that I have contributed to their disability. My eldest son, J is a part of the DDD study in Northampton, and after three years they finally got back to me with half an answer, which is they have excluded any condition J could have that is not hereditary, and so they are now testing mine and his father's samples for answers, and to see if we have passed anything on to him. The DDD study is huge, and therefore it is taking years for them to test and to collate all their data from every sample taken.

W was, as always, a superstar at the hospital. I had prepared him for the fact he would need eye drops, as the last time he got so upset and it took ages to persuade him to have them.
This time, he knew it would be unpleasant, but he sat down, put his head back, and let the chap administer the drops. He flinched, as we all do, and rubbed his eyes, but he did it, without screaming or point blank refusal. Afterwards he told a few other people in the waiting room, that "the eye drops are okay but a bit stingy". 

The next day he was over the moon as we went to the optician to order some new pairs of glasses. Even though his prescription is the same, I thought it was time for him to have some new pairs. He choose a Star Wars themed pair, and a style similar to his current Gruffalo pair. He is currently doing a countdown till the day we can go and collect them!

Applying for a Statement (EHCP)

W is happy in his kindie year at school. He is technically in Year 1 of primary school here (UK), but as I took the decision not to send him to a mainstream school (due to the overcrowding of the classrooms - our area have roughly 40 pupils per class - and the fact our Local Authority would not provide him with any assistance), he is still classed as a kindie student (along the lines of the US and Montessori way of schooling).
He is in a class of no more than 12 children, and has a lot of one to one teaching.

I have just begun the process of applying for a 'Statement' for W, although it is now called an 'EHCP' (Education Health and Care Plan). To actually get the required forms to apply for this was a challenge, with numerous answer phone messages being left with the SEN department of our LA, emails being sent (with the courteous automated acknowledgement replies from their inbox), and mis-information being offered by someone in their office, which confused and delayed the supplying of the forms to me by several weeks.

Our LA do not provide provision for VI children under 16. They may, at a push, offer a few hours a week of an SEN assistant to help out during school hours, but for the most, it is a kind of "get on with it yourself" attitude. Only a few miles away, but not in our catchment, is a specialist school for VI children, and also a unit attached to a mainstream school that is for VI children, that is equipped fully with all the useful tools to help with the teaching and education of a VI child.
There is a person who works 'for' VI children, via the LA, and advocates what assistance there is in schools, but he just has leaflets to give out, and spouts a lot of hot air, which doesn't do much. When asked about the schooling just outside the catchment, he closes down faster than an MP being asked about his expenses fiddle. He has a grand job title, is paid by local taxes, and doesn't actually 'do' much - quite common nowadays.

As W has oral motor delay as well as his VI, it should not be too much of a struggle to get a Statement (EHCP). It is then with this, I can push the LA into action, and either get them to allow him to attend one of the VI schools, or to pay for his education at his current provider, to which I am funding myself currently.
There is a fabulous primary school for SEN children (aged 4-11), which is where my eldest son, J, who has severe autism and learning difficulties attended, but this wouldn't be suitable for W, as although they provide excellent tools for communication, PECS, equipment, sensory, and outstanding staff, (yes I am biased as they are truly amazing!), W is not impaired cognitively or socially, and so it would not be appropriate schooling for him - plus the school is in such high demand, being the only SEN primary school for autism and learning difficulties in our LA. They have expanded once already, and are expanding again. Testament to A) the school being led by a wonderful Head Teacher, and B) how many more children are needing special education.

Yes I could just put up and shut up and just send him to a mainstream school, but he wouldn't receive tailored teaching to his needs, and he would fall behind (quite literally as he has balance and co-ordination limits due to his depth of perception ). If the schools were not so over crowded, under funded, and had more trained staff for SEN, then I would consider it, but I just can't push him into a cattle market conveyor belt of education.

I still have all the paperwork from J's (my eldest's) Statement application and process. It was a lot of work, and took time to achieve, but it was smooth and almost effortless, as there was not doubting he would get the Statement, due to his severe disabilities. It was also carried out in a different area, and the LA where we were then were a lot more practical and approachable.
This time around, almost 10 years on, and in this current LA,  I think it will be a lot harder to obtain, and the obstacles placed by the SEN team of the LA, will no doubt test my limits of patience. I have had several dealings with them in the past, in relation to J, and it can be like wading through knee high mud, with someone throwing water balloons in your face. They make it hard for the parents/carers ( I have spoken to many, many parents like myself who have struggled with them too), which is terrible, considering we are already dealing with our children's special needs.

The Need For A Visibility Cane

It's something most parents of young children have experienced, but it has become a bug bear of mine of late.
Other people and their attitude towards young children when you're out and about.

Supermarket shopping, walking in busy places, queueing...... places where there are plenty of people, who are busy, and want to get to where they're going, and if your child is in their way they tut, sigh, roll their eyes, or mutter.
It's, of course, not just young children that fall foul of this, and I know many, many people with a VI have had similar happen to them.

As W takes longer to 'see' things up close, and does not see from a distance, he can bump into people accidentally, or stand in their way, as they march towards their destination, and because he doesn't move out of their way with lightening speed, they feel their whole day has been ruined, and thus have to make sure he, and I know of this terrible trauma to themselves.
Yes I write that paragraph with a huge dose of sarcasm, but I have had enough of selfish, thoughtless people and their bad attitudes.

We were in the chemist recently, and were in a queue. W was talking away, (he doesn't stop chattering these days!), and the queue movement was stagnant for a fair while, which obviously caused the woman in front of us to become annoyed.
When it came to her being served, she was short and clipped with the assistant. When her prescription was handed to her, she snatched it, turned, saw W and I behind her (we were not close enough to whisper sweet nothings in her ear, or kiss her neck) and proceeded to barge at him. Barge. She could have walked to either side of us and the queue, but she decided to walk straight at us, or to be precise, W. I believe she thought W would jump out of her way. He didn't. He wasn't aware of her manner and expectation, and was still talking to me.
In the ensuing seconds of her turning and barging, she sent him flying backwards. He fell into the metal display shelves, banging his head, and crumpling to the floor crying.
She stood still, tutted, exclaimed "he should have moved then", and walked off.
Two assistants came round to help W. The queue stood there half shocked at her brazenly walking off after what she had just done to a child.
Cuddles, head checked out by the pharmacist, a promise of a bar of chocolate, and W seemed okay.
I got our prescription, and left as quick as possible.
Should I have pursued it further and had her stopped? Maybe. But it happened so quickly, and W was my priority. Hindsight is a wonderful thing.

I know this kind of incident is not common, but it did happen, and it was traumatic for W.

I sourced a white visibility cane for him soon after, and I have noticed the difference in many people's attitudes towards him.

When walking into or out of a shop door, in an aisle, stairs, buses, parks, etc, we get less bad attitudes, and instead receive a head nod type of acknowledgement (directed at me), and a half smile and head tilt (in W's direction). It really does make a difference to the way W is treated.
I purchased the cane from - RNIB Children's Visibility Cane

Posing with his visibility cane. Note the labradors behind him! One is just visible above him on the left side, the other is looking grumpily at the camera. Both sitting in their bed, waiting for the photo to be taken. 

W understands the cane is to help people understand he has special eyes, and that he needs a little more time in walking, negotiating new places, and being in busy places. He likes to hold the cane. I feel less anxious when he has it too. Less anxious, as people are kinder towards him, and have more patience.

As it's Wednesday, I'll add this in to the post. The NAD is in a few months.

Little Girl Wearing New Glasses For First Time

This video has been circulating around social media places, and I have watched it many times. Each time brings me to tears, and also a big smile, as the little girl really shows just how wonderful something so many of us take for granted, is to her.

Just click on the link - Little girl wearing new glasses
This link will take you to a public Facebook video being shared by the little girl's mother.

I have captured a screen shot from the video. Look at her beautiful little face! 

Unintentional Comments and Eye Appointments

When an unintentional comment about W and his eyes is thrown our way, it could be easy to throw one back, but for me I take it in the genuine nature it was intended.

For example, on the last visit to the eye hospital, W had to have a special photograph taken of the back of his eyes. This photograph was to determine whether he had another sign of an eye condition called ocular albinism. I would like to be able to explain what he was looking for in detail, but to be honest, I cannot remember it correctly, and I don't want to give the wrong information.
We walked down to the room with the camera, and were greeted by a nurse and a chap who was operating the machine.
W sat down, and placed his chin in the rest, as requested by the photographer.
The photographer then proceeded to try and take some photos.
He soon looked up at W and made the following request - "young man, can you please stop moving your eyes around as I cannot get the correct photo that we need."
I looked at the nurse, she looked at me, we both then comically looked at the photographer and said in unison - "he has nystagmus, he can't control his eyes!"
He was so embarrassed! However, I didn't take offence. It was an honest error and meant with no malice. But at least now he understands that when he see the word 'nystagmus' he knows it's an involuntary eye movement.

Some photos were taken, and we headed back to the specialist. But, unfortunately, the photo of the area he wanted to see, was missed by only a few millimetres, and therefore he didn't get the answer he had hoped.
As we had been at the eye hospital, by that time, for four hours (!!), W was tired, I was tired, the waiting room was empty, the reception staff were closing up,  and I just wanted to get home, despite knowing we would hit the rush hour traffic, and all the hospital staff vacating the site as well.

Swabs were taken from W and myself, during that visit, and will hopefully either rule out or determine a genetic factor in to why W has nystagmus (and any other condition). It may even link into my eldest son's disability (he has severe learning difficulties).
I have spoken in detail about the genetic tests carried out on my eldest son, J, in the blog I write for him ( you can find it here ), and I clearly state that I have not wanted genetic tests carried out, in the vain hope of finding the boys have something that could be cured, but rather I want my middle son O, (who has no disability) and my youngest W, to be forewarned about anything they could pass on to their children. My eldest will not have children of course.

Our next appointment is in early August, and we may have some results back from the tests. The appointment is always the same routine
* have general chat with ophthalmologist about how he's doing
* have eye test (at this age it is pictures to point to, not letters)
* nurse administers eye drops
* wait for 20-30 mins
* see the specialist who performs an in depth examination of his eyes and determines if new lens strength is needed for the glasses

This usually takes around 2-3 hours, but can and does run on for longer when there are delays with other people's appointments, staff shortages etc.

So far, over the years, W has taken these appointments with such graciousness. He doesn't complain or moan. He complies with the requests from those who are looking at his eyes. He is amazing.

Learning To Ride A Scooter and Bike

When W was a baby, I knew I wanted to allow him the freedom of a regular sighted child's childhood, and not be over protective, or stop him from trying something.
When he was a toddler, it was easy, as we all hold toddler hands when out and about, and we take extra care with them.
As W got older, around three years old, he would watch his two older brother ride around on their scooters and bikes.
In time, W inherited his middle brother's scooter, and I was very nervous about him using it, although I didn't say this to him.
The first time he had a go, was in the garden, and he was so confident, and actually incredibly good at it. No wobbling or difficulty with push starting, and using his foot to push along. It was fantastic to see. He flew around and around, so proud he could join his brothers in their games.

Scooter similar to his

The above scooter is very similar to the one he was handed down from his middle brother. It has a wide foot plate, and three wheels, which make it more sturdy for beginners. It's still in the garden shed now, and W does still enjoy his scoots around the garden. Sometimes he is a delivery driver and I am given parcels from his scooter van. Other times he takes order for a grocery shop, and will bring you back your 'goods'.

He is super quick on it, and on days when the dogs are lazing about on the patio, enjoying a particularly warm day, they do have to have quick reflexes and get out of his way!

As he got older, he wanted a bike. I had heard good things about balance bikes, and after reading reviews, and talking to other parents, I decided to purchase one for him. I felt a balance bike would help him with his coordination, and as there are no pedals, he would have one less thing to think about.

Balance bike from Toys R Us

The above bike is the one I bought, and it has been an excellent choice. W flies off on it. He's so confident.

With a helmet for safety, I introduced him to the local park with the bike. He whizzed off. It was quite scary for me to see.
I decided to come up with a 'call out', that W knew meant he had to stop where he was and not move. 

This was because there were other cyclists (some of whom have little respect for any other person in the park and ride fast, and close to children without a thought or care). However, most cyclists moved to his side, and smiled at him, as he waited where he was, waiting for my all clear call for him to begin riding again.

The reason I used this call out was for the simple reason ; W cannot see these people on their bikes, or walking along, other children on their scooters, dogs chasing a ball.... from a distance. As I've mentioned before, he only sees them from around 3 metres away, as a figure, and then only their features from around a metre away. Naturally he uses his hearing, and sometimes stops automatically before I've called out, as he can hear the rhythmic turning of a cycle wheel, or the thud, thud, thud of dog paws running his way.

I've been told that these balance bikes are a better way for any child to learn how to have bike confidence. Apparently the transition to a pedal bike is easy, as the child has learnt the art of balancing, speed control, turning the handle bars. and stopping (no breaks on the balance bike, but the child learns to slow down).

Time will tell if this applies to W. For now he is happy with his current bike, and feels like he is keeping up with his older brothers. 

17 Year Old Young Woman, Who Is Blind, Wins Bronze At Pole Vaulting

A friend sent me a link to a news article about a young woman, who is a pole vaulter, and also blind.
It was brilliant to read about her winning a Bronze medal in her state of Texas, USA, high school championship.

Charlotte Brown

Charlotte Brown, who is just 17 years old, was joined on the winners podium by her Guide Dog, Vador.

Charlotte with Vador

Charlotte developed cataracts at 16 weeks of age, and had artificial lenses inserted. Her vision began to worsen when she was around 11 years old, and now, at the age of 17, she is classed as 'legally blind'. Her only vision is what she describes as a 'jigsaw puzzle' of light and dark shades.

Charlotte has been training in her pursuit of winning a medal for the past two years. She finished eighth, and then fourth in previous attempts, and then won third place last Saturday.

Charlotte first took up pole vaulting, which is not a Paralympic sport, in seventh grade because she wanted something a little, as she says - "dangerous and exciting".

Charlotte says that she counts the seven steps of her left foot on her approach, listening for the sound of a faint beeper placed on the mat that tells her when to plant the pole and push up.

Charlotte Brown

Charlotte says ;

"It took me three years to get on the podium, and I finally did it."

"If I could send a message to anybody, it's not about pole vaulting and it's not about track. It's about finding something that makes you happy despite whatever obstacles are in your way."

"This story really wasn't about me."

"It was about everybody that struggles with something."

What an amazing young woman. She proves that barriers are only there to be vaulted over, and are not there to stop her from achieving her dream.

What Does He See? Nystagmus And My Boy.

One day, a few weeks back, W matter of factly told me, whilst walking down our stairs, that the stairs look flat to him. He said the floor on the ground looked all one level to where he was standing at the top of the stairs. 

This was the first time he had ever conveyed to me just how he sees. It was a big moment for me. I didn't make out to him it was a big moment though, as I didn't want him to be put off telling me things, or be scared by my over enthusiasm. 

What he described to me is called 'depth of perception', and is something I have been aware of from the early days of me researching nystagmus. I have always informed him about steps, tree roots sticking up, or holes and dips on pavements or roads, etc, as I knew he didn't 'see' them as they were, and could, and did at times, fall over them.

I did however take what he had told me as a sign that I could begin to ask him little questions about what he sees.

I asked him to tell me what he could see on my face. He pointed out all my features. 

I then asked him to stand four metres away, and asked him the same question. He immediately answered with all my features, but I could tell he was just repeating them, as he knows where they are anyway. I asked him if he could actually see them, and he paused, looked, and said "no". He was a little bit confused by this question, but I explained to him that I know he remembers where my features are, but that's different from seeing them. 

He moved closer, to three metres, then two metres away, and then by one metre he exclaimed, "yes, yes mummy, I can see your eyes and mouth now!"

I was slightly overwhelmed by what I'd just experienced, as it brought home just how close he needs to be to see details, but he was happy to comply with it all, and I didn't make it out to be a big deal. 

I had had some inkling that he could decipher people's shape and clothing from further away, but didn't actually know if it was them or not until they got close enough.

An example of this was in the supermarket with a friend, with W sitting in the trolley seat (he still sits in the seat aged five as I like to keep him close in big supermarkets due to over zealous trolley and basket shoppers who barge through aisles, barely missing children's heads).

My friend went off to another aisle, and a minute later W started talking to someone who was a few metres away. I looked round, and saw it was a stranger, and said that that person wasn't my friend. W told me that they were wearing the same clothes though, and yes I admit she was in similar coloured clothing, and was a similar shape and height, but it wasn't her. I explained this to him, and he was puzzled. That was when I thought he was struggling with details from a relatively close proximity. 

It was another incident that made me really think about all of this ; When the boy's dad came to visit, and I hadn't told them he was coming (in case he cancelled last minute and let them down), that I said to W, "open the door, I wonder who is there?". He did open it, and looked at the person standing in front of him. W looked him up and down and asked "who is it mummy?", and only then did his dad speak to say "hello", that W recognised his voice and yelled out, "daddy!!".

That made me really have to reconsider just how hard seeing is for W.

W is a confident boy now. He was painfully shy as a baby and toddler and would cling to me - I can't blame him, as the world is massive, and being so little, and not seeing too far away, it must be scary.

But, to people that meet him now, they can't believe he was ever a clingy, crying little boy that needed me to be there with him all the time (not that I minded, as I believe in 'attachment parenting' ideals (a lot of them, not all).

Something that W was afraid of was strange dogs walking in the park. Yes, we have two dogs ourselves, but he would scream when these strange dogs came up to his face. I understood why, and explained to the owners, that he wasn't scared of dogs per se, but he can't see them running towards him, and it's only at the last second that they appear in his view, and 'wham' they are there in front of him. That is quite scary if you think about it. And a 2 or 3 year old, right down at a dogs level, suddenly having a strange dog in his face - that's scary!

I would then always do a running commentary about the dogs roaming near us, and warn him if they were near, even calling the dog to me first, to allow W to see him/her first, be able to reach out to stroke them, and then know what the dog looks like. I still do this now.

He is so confident in familiar places. There have been occasions where his confidence has been dented, for example when keeping up with his friends when playing in the forest, he doesn't see little branches poking out, and he always smacks into them. He can't keep up with them completely either, but at this age I explain that it's not a race, and that he has a few friends that try to keep near to him to help him, when they remember (they are still only little so it's not expected that they either understand fully why he has difficulty keeping up with them, or remember to).

Due to his confidence, it makes people believe he can see far better, and further than he really can.

When I try to explain, I have been met with disbelief and  sometimes even scepticism that I am a liar! 

As he is only five, I know we still have a lot to learn, but he will be able to talk to me more about this, and educate me on his vision. We are lucky that we have a great team of eye specialists where we live, and one of them is a leading researcher in the area of nystagmus. We are part of his research study, and it is very reassuring to know that he understands all about nystagmus and wants to find ways to treat it and even cure it one day. 

I Am Back And Blogging - Nystagmus

I have neglected this blog, and I apologise. I write another blog titled 'My Boy With Autism' and I have written many updates on there about W and his nystagmus.

I will put those links here, so you can read what I have written over the last few years.

I am aiming to start blogging on here properly again, but as a mum of three, with two labradors, one rat, and a mother living in my house due to her relocating across the country, I have very little spare time.

I should try harder though, as I remember how much I needed to read about nystagmus when I first heard about it, and the worry and upset I had about my son.

First post on my Autism Blog - My Third Child

Second Post on my Autism Blog - Nystagmus and the New Baby

Third Post on my Autism Blog - An Update on my Now Toddler!

Fourth Post on my Autism Blog - The Baby is now Three!

Fifth Post on my Autism Blog - Update on my third son, who's now Five!