on vacation

Just an FYI- I am currently on vacation for 3 weeks

Added to diagnosis post,will add some more baby photos once I have scanned them.

Diagnosis - I should have written this post first!

I am guessing by the very fact you are here you probably have a diagnosis or a strong suspicion and are likey to have a baby who looks pretty much like mine did........



For some, the arrival of a very fair, white haired baby is enough to alert them to the possibility of albinism. For others, like us, it was quite expected to have such a fair baby, the midwife did have her suspicions initially but she was noticeably relieved to see our baby had blue eyes- I know many can relate to that little phrase. The word albinism (well actually, albino) was not mentioned for another 4 years.


Yes you did read that right,our son was not diagnosed with albinism until he was 4! I know you are probably wondering why not- well basically he did not tick all the boxes for the stereotypical baby with albinism. Yes the above photo is a true reflection of his hair but because his hair was clear, not white, it looked blonde in other lights ad it totally disappeared when wet!

It wasn't actually as yellow as this but he was born in the days of 35mm cameras, I would love to have digital baby photos.

And of course it wasn't long before shampoos stained his hair. Here is at at 8 weeks modelling cradle cap cream!!



There were no apparent vision problems, no nystagmus, he looked around and interacted well.




At the age of 2 we went to the orthoptist for routine vision screening and I was asked why I hadn't noticed my son had appalling vision! The fact that he was a great bug catcher and could squash an ant in an instant didn't seem to be possible now but he had 'appeared' to see just fine. So now he was in glasses and boy did he look cute Strangers stopped us in stores to comment on his appearance- he looked more like the milky bar kid than the milky bar kid in the advert! Once during a chat with the dispensing optician I mentioned the bug catching skills and he was like- well what do you expect he is nearer the ground than you so yep, he can see them alright!
We plodded on for another couple of years, he reached all his milestones early, went to preschool nursery and had lots of fun. When he was around 4 ish the eye doctor said that she would like to know why he was so longsighted, her experience was that there is always a reason for a child's bad vision and her hunch was albinism even though he did not have nystagmus. I was ordered to stop any attempt to dilate his eyes on the next visit so that she could look for transillumination of the retina.

Next visit and yes the nurse tried to put drops in as soon as we got to clinic so I was pleased I was prepared. The moment of truth, a quick look through the slit lamp with the eye in it's normal state and that was it, transillumination of the retina was obvious and albinism was confirmed, my son was no longer simply a boy who wore glasses, he was a visually impaired child with an eye condition.

OK the next bit all parents in our position know- hubby and I picked our hearts out of our stomachs and started to ask all the usual stuff- why him? why us? what is albinism? what can we do? where do we go to find out? what about his future?...........

No Internet back then, just some crummy books all saying the same thing- albinism is a lack of pigment, if you are reading this then that wasn't enough info for you either!

I was so frustrated, here I was, a health care professional, used to having my head in a book researching and I couldn't find the answers I needed. Out of desperation I went to the family GP who was honest about the fact he didn't know anything about albinism so we were referred to genetics in London.

Well I have to say that appointment wasn't quite as we expected. First we were asked why we were there as we had a boy and a girl- the perfect family we were told- that still makes me angry, not what I would call counselling at all. Our eyes were checked and we were told none of us had any evidence of albinism!!!! I explained that I had been shown the transillumination at diagnosis so a VEP was arranged, probably to shut me up.

Another trip to London for the test. It is fairly straightforward, probably the worst bit is getting a child to sit still while putting the electrodes on. All he remembers of the test was watching Mickey Mouse on the TV, I don't think it was Mickey but black patterns on a white background, he presumed it was Mickey. For more info on VEP click here http://www.ich.ucl.ac.uk/factsheets/families/F010256/index.html The test result came back positive to albinism and we were told that albinism varies and that it is known for 'albinos' to be blind- goodbye!

Hearts are in our feet now- so many questions and scenarios whizzing around our heads. My father-in-law was in the process of losing his vision rapidly from a degenerative disease and for all we knew the same could happen to our beautiful little boy. That was probably the scariest time and I will be the first to admit that it was a very bleak period, far worse than the initial diagnosis, why hadn't our own eye doctor told me this. I am so grateful to the hospital librarian at work who vaguely remembered an albinism support group- we found the Albinism Fellowship-yeahhhh. Soon a leaflet landed on the doormat with the most wonderful words I have ever seen- Albinism is NOT a degenerative condition- that is why our eye doctor hadn't scared us. Of course I have since learnt that there is blind and legally blind. Blind like my F.I.L is no vision, not even shapes and legally blind is vision that lacks the clarity to read the eye chart, if only genetics had explained that, yes we would have been upset but we would not have been devastated.

And the riddle of the disappearing transillumination- no idea, I just know that I have seen it but quite a few doctors have missed it- my kids are often used to quiz student doctors for guess the diagnosis sessions.

Second time around diagnosis was so different. My third child was born with white hair and her eyes screwed up tight- one look and I just knew. My records said brother has albinism and Mum does not want input regarding risk ( I didn't want to risk miscarriage with invasive testing) so guess what- the staff in the maternity unit seemed to be ignoring the fact that my new baby had obvious albinism. One midwife did pluck up the courage to approach me after 2 days! When the paediatrician did newborn assessment for us to go home, he shone a torch across baby's face (grrrrr) and stood silently. I helped him out by asking for a referral to my son's eye doctor.

At 10 days we had to go to to see the eye doctor, the nurse duly came along with the obligatory eye drops. Luckily I knew her professionally and refused the drops, caused a bit of a stir but I got my way. The consultant was very pleased I knew to refuse the drops, she looked in my daughters eyes and asked me what I thought- I said albinism and she is like- yes I strongly suspect so too bring her back at 6 months and we can confirm it formally. So how do you use a slit lamp with a 6 month old baby you may ask?.......hold the baby like a rugby ball and rest their little chin on the support and bingo---perfect positioning LOL and an official diagnosis.

Welcome to the world of orthoptics, refraction, low vision aid and strategies- its a whole new language.

Reducing Glare

So what can be done to reduce glare from so many sources????
The 2 most important pieces of anti-glare kit for my kids are HAT & TINTED LENSES

This was probably THE most effective change we made, it revolutionised our son's life. Within days of returning from an Albinism Fellowship conference we had his glasses tinted and insisted he wore his baseball cap more, oh and we now know to check the colour of the underside of the peak to minimise reflected glare, the white legionnaires hat was thrown away! His visual acuity improved immediately.

GLASSES- Why tint?
Not everyone with albinism has tinted glasses, it is personal choice. Once we discovered our son found it more comfortable to read with a coloured overlay to reduce the glare from white paper I decided to have his glasses tinted.

What colour tint?
Initially he chose a blue tint, mainly because he is a boy! At the time he wore 2 pairs of glasses, reading & distance so we had the reading glasses tinted much darker than his distance glasses. The difference was amazing, his comfort improved which meant longer concentration when reading and writing, these skills also accelerated as he could look at the page for longer without looking away. He wore blue tints successfully for about 10 years.

My daughter automatically went into blue tints when she started wearing glasses until a couple of years ago. The dispensing optometrist wondered why she had blue tints- the answer, because her brother finds them helpful. Apparently grey/ brown is far better for vision, something to do with blue tints interfering with blue light so we trialed grey- my daughter loves them, she finds them so much more comfortable and they allow her better vision.

Sunglasses
Both of mine wear prescription sunglasses. When my daughter was very little I would use plastic sunglasses when she was in her pram as she regularly tossed them away LOL You can get high SPF plastic sunglasses easily and they are much cheaper to replace. I always put her prescription sunnies on to walk around. I wish baby banz were aailable back then, these glasses are fab www.babybanz.com









Boots do their own for under £10.Of course I have debated photochromatic lenses for a long time and have been advised against them by the professionals because they take too long to fade back indoors and could be dangerous / they cannot have a base tint / they do not work in the car. Yes you guessed it, we still trialed them anyway! We (my daughter and I) have mixed feelings about them: the lack of base tint can be a problem especially at school; they are pretty useless in the car; they do not always darken under her hat but they do darken immediately when she runs outside without changing into sunnies, change of glasses is often overlooked by her teachers in the winter and the UK winter sun is low and blinding. Whilst in the US we purchased kid's polarised clip-ons, in very bright conditions with lots of reflected glare bouncing up from the ground the clip-ons are great on sunglasses. We looked at cocoons fitovers but even the kids sizes seemed too big, they are worth a look at though to see what you think.



Tinted contact lenses
My son started wearing tinted contact lenses when he was 14 or so. For him this was a practical decision not cosmetic. As the contact lens sits on the eye it reduces glare more than glasses. He was bothered by glare 'sneaking' in around the sides and top of his glasses and didn't want to wear glasses with side shields. It was decided to try out with navy soft lenses which have proved very successful. I have suggested trying another colour but he wants to stick navy and as he is now a young adult it is no longer my decision to make. He has always been resistant to change when it comes to his visual needs, it takes ages to convince him to try a new strategy but once it works, that's it for good. I know that others have hand painted contacts in colours that have been proven more beneficial to vision,you never know he may change his mind. The little one has not taken to contacts so well, I was hoping to help her photaphobia by using them. As her prescription is very strong she will probably still need glasses over the contacts. She was very enthusiastic until the moment a finger went towards her eye, she is practising touching the white of the eye and we will work on it as she gets older, I am certainly not going to push her before she is ready. One thing I have learnt is that my children are very territorial about their eyes.

Hat

Luckily I have always been paranoid about sun care, so all my children wore hats outdoors during the summer which meant I was helping my son a little pre-diagnosis. Before you think I am superwoman I did make mistakes, using a brilliant white cap being one of them, it must have been so uncomfortable for him. A decent hat is very important for vision because it reduces the amount of light entering the eye. Baseball caps are brilliant as they can be pulled down so that the peak is close to the eyes, look for one with a wide peak with a dark underside. They do not provide skin protection in the summer, you will need to protect delicate ears and necks with a wide brimmed or legionnaire's style hat for warm weather. We found this fantastic hat on our last trip to the states, it was about $15-20 in the Sportsman Warehouse. The hat is made by http://www.sundayafternoons.com/

Whilst tints and hat are essential in reducing glare they do not eliminate it and strategies are needed to help reduce the problems. The arrival of our daughter who has severe photophobia resulted in a far more aggressive approach to glare reduction.

Out and About

First problem faced- the car, I dreaded going out in the car, she screamed so much it would end up in a choking or vomiting episode. Of course we already had the stick on sunshades but they didn't really help much. I bought a car seat sunshade similar to this one which can be found at http://www.protect-a-bubusa.com/carseatsunshade.shtml , I was able to leave it in situ on the first stage car seat when carrying it from A to B, it gave great shade.

This helped a bit so the next thing was to tint the car windows, we went for limo black and the effect was instant, since then we have always tinted our car windows. Even my son who said that he was always OK in the car with the factory light tint says it is much more comfortable with privacy glass tinting. Last time round I had my car tinted pre delivery but the tint is not dark enough and it was much more expensive that way- grrrr. I will have the next car tinted locally next time as we have more control over the depth of black. I am so frustrated that the UK law changed and now prohibits tints to front door windows, the car is much darker when the front door windows are also tinted, there are no exceptions on medical grounds- I phoned the DVLA.

Luckily my pushchair had a huge hood that offered fantastic protection and I used a clip on navy parasol to block reflected glare entering the hood from a lower level. When I bought a lightweight stroller the hood was, well a little pathetic so I made a navy sunshade, with bridal dress hooping for rigidity, using the rainhood as a template. I was very proud of my invention and my little lady loved it and guess what it is really similiar to this one at http://protect-a-bubusa.com/compactstrollersunshade.shtml and another at http://www.walmart.com/catalog/product.do?product_id=4631112 Just to rub it in, this is like the stroller I made the sun shade for!! You guys with babies are so lucky, manufacturers have really started thinking about sun protection.

Indoors
I have wooden venetian blinds to reduce the glare coming in as the sun floods into our lounge which has always been problematic, especially in the winter. Now with the blinds, the kids can sit in the bay window!! Another bonus is that the room is shaded but not dark, rather than closing the curtains and losing light the blinds can be slanted upwards. Previously I had light filtering blinds from Littlewoods which are a cheaper, good but not so effective option.

The school windows have anti glare film and blinds on the windows.

I have had somebody say to me 'no white walls in your house then'
Actually I have white walls in north facing rooms where there is no glare from the window and it doesn't bother the kids at all.

We have some bright lighting in the kitchen- downlights but they were planned on 2 switches so that some can be turned off. We also have under cabinet lighting which is much softer without losing task lighting.

Dimmer switches mean that lighting suits all of our needs.

The garden posed a bit more challenging. A white wall in the garden had to be painted out when we learnt about glare and to be honest we all found it more comfortable. Providing shade can be difficult. We have got through a few gazebos and parasols as they are in constant use. Ikea sell good shades in the summertime similar to this one in walmart.

I have used sheets draped from fence posts and branches before, it is effective shade from glare, but it is just that shade- I doubt if there was much sun protection. The advantage is that when sheets get wet they do not collect water and collapse in a heap, my neighbours probably thought I was mad but my kiddies were happy underneath.

Paper

This has easily been our biggest challenge in the fight against glare. Nearly everything is printed on white paper. I spent years printing black lines onto plain yellow paper, then sticking it into schoolbooks so that my son had the same books as his friends. Thankfully, although late in the day I found out about the partially sighted society. Exercise books for school can be ordered from them, they have a choice of paper colour and the lines are thicker and darker than standard exercise books.

The Partially Sighted Society, Queen's Road, Doncaster, South Yorkshire,DN1 2NXTel: 01302 323132 / 01302 368998

Any colour is more comfortable than white and yellow offers good contrast but any colour would do. Cheap colouring books tend to be printed on off white paper, avoid brilliant white, especially glossy paper. The same with reading books, second hand books have often discoloured and become more comfortable to look at. Staples sell yellow lined and squared paper in the UK, these pads are readily available in the USA. if you have that access.

Reading books are a major stumbling block because of paper colourand font size (more about that later). A coloured overlay helps reduce glare from the paper and enhances contrast of th written word against the background. You can buy purpose made overlays but I often cut up non reflective coloured plastic folders to various sizes, cheap and effective as they soon become tatty. Talking about non-reflective, if laminating use matt laminating pouches.

The computer background is not as much an issue as paper as it can be changed in an instant and eventually I will post about adapting computers easily for kids but remember that Iam not a computer whizz!

Please bear with me - I'm still working on this post!

The Beach

This weekend my 7 year old's homework was to write a paragraph about 'The Beach', describing what she could see, hear, smell and how she would feel. I wanted to share it, particularly for anyone who has just been told your child will never be able to............ you know how it goes
I know I am biased but I was so impressed and I love the last sentence, it took my breath away.

Here it is:
I love the beach, with the screeching seagulls flapping in the sky, the waves rolling and crashing against the stones. I can smell salty seaweed, the slimy seaweed feels horrible but the crunchy seaweed is fun to POP. Exploring the beach is excitng, using the shells to decorate my sandcastles. I dig for crabs with my Dad. I feel energetic running trough the waves.
Most of all I feel lucky to be here.

Glare

Studies have shown that measuring visual acuity in the visually impaired does not necessarily predict problems encountered in everyday life (Aslam, Haider & Murray 2007)


Before talking about the adaptations and strategies we have found that have helped our children’s vision impairment, I would like to talk about the children’s biggest enemy – GLARE. This is a really important consideration as awareness of the importance of reducing glare to help a child to maximise their usable vision will allow the strategies you then put in place to enhance their vision be more beneficial to them.

Disability glare is the loss of retinal image contrasts . Lack of pigment in the albinism eye cannot filter the amount of light entering the eye, the light bounces around the back of the eye uncontrollably preventing a good retinal image especially if light sensitivity is severe, which in turn reduces the ability to be able to see. It has been likened to walking out of the cinema on a bright day and experiencing a period of relatively poor vision but this is adaptation glare and quickly resolves.

Glare is probably much more of an issue than any normally pigmented person first realises. It is not as simple as just keeping your child out of the sun, at times glare seems to be everywhere. Direct glare is more obvious, the sun and bright lights being the main culprits that automatically spring to mind. Then you have to start thinking outside the box.

I would like to point out at this stage that this is our family's experience and something that may not affect your child but my one piece of advice would be to try reducing glare anyway to see if it makes a difference. My son did not 'appear' to be overly bothered by glare yet once strategies were in place his vision and comfort improved. He realised that other people did not experience these problems- he presumed everyone else 'saw' the same way he did. As ell as direct glare my children are affected by reflected glare from snow, concrete, water, light coloured buildings, walls & fabrics- I bought my son long sleeved white school shirts (compulsory uniform) when he started secondary school but the glare was so uncomfortable when he tried to write he had to change to short sleeved shirts! Of course one of the most unbearable glare sources for my children has been white paper /backgrounds.

Remember

Found this today while compiling my Albinism Matters website and thought it is so true :
1. Take one day at a time, and take that day positively. You don't have control over the future, but you do have control over today.
2. Never underestimate your child's potential. Allow him, encourage him, expect him to develop to the best of his abilities.
3. Find and allow positive mentors: parents and professionals who can share with you their experience, advice, and support.
4. Provide and be involved with the most appropriate educational and learning environments for your child from infancy on.
5. Keep in mind the feelings and needs of your spouse and your other children. Remind them that this child does not get more of your love just because he gets more of your time.
6. Answer only to your conscience: then you'll be able to answer to your child. You need not justify your actions to your friends or the public.
7. Be honest with your feelings. You can't be a super-parent 24 hours a day. Allow yourself jealousy, anger, pity, frustration, and depression in small amounts whenever necessary.
8. Be kind to yourself. Don't focus continually on what needs to be done. Remember to look at what you have accomplished.
9. Stop and smell the roses. Take advantage of the fact that you have gained a special appreciation for the little miracles in life that others take for granted.
10. Keep and use a sense of humor. Cracking up with laughter can keep you from cracking up from stress.

Albinism in plain English

I thought I should add a quick layman’s translation of the problems associated with albinism.

Melanin, or lack of it is the underlying problem in albinism. Melanin = pigment. It is more commonly associated with colouring and basically the more pigment you have, the darker your skin, hair and eyes. However melanin is also essential in the development of the eye, reduced or absent pigment prevents the eye from maturing properly both before and after birth. It also reduces the body’s natural defence to sunlight affecting the eyes and skin.

I will briefly describe, in plain English the problems in the albinism eye to help you understand why glasses cannot completely correct the vision. Basically the problems our children have are:

Foeval immaturity- the part of the eye that makes a clear picture is called the fovea, it cannot develop without pigment. The result is loss of quality to vision, my children need to get much closer to a street sign than me to make out what it says.

Nystagmus – wobbly eyes.
The amount of movement varies considerably and is involuntary, some move all the time and may be the first indicator that there is a vision problem, others hardly have any movement at all and are barely noticeable.

Strabismus – squint.
Whilst some squints are muscular, the squint in albinism is often caused by a wiring poblem sending nerve signals from the eye to the brain. The squint can be inwards (convergent) or outwards (divergent). It can also alternate from eye to eye. The hospital will monitor this to see if surgery is an appropriate step for vision improvement and or cosmetic appearance.

Myopia / hypermetropia – short / longsighted
People with albinism are often long or short sighted. Glasses can help this deficit but rarely correct it completely.

Photophobia – sensitivity to light.
Usually light enters the eye through the pupil, which is why the pupil dilates (gets bigger) at night to help you see more. In albinism, the iris lacks pigment, if pigment is present it does not work properly. This causes light to flood into the eye through the pupil and iris, the light then bounces around the eyes. When there is very little pigment in the iris it can be transparent, you can see the light reflecting off the back of the eye giving the illusion of pink / violet pupils. Even with blue eyes in albinism, you often see the red reflection in certain lighting. This is called transillumination of the retina and is often a diagnosing factor in albinism.

As they eyes do not work together properly, depth perception can be affected, making it more difficult to see slopes and steepness of stairs. Also it is harder to judge the exact position of obstacles if the brain is using the image of one eye, try walking through a doorway with one eye closed.

OK if this is clearer than mud and you want to know more, this is a great link
http://albinism.med.umn.edu/facts.htm#eyeprob

Other info

In time I am hoping to add other people’s experiences so that there is a broader view for future parents starting out on the albinism path.
For more information on albinism click on the links:
UK – www.albinism.org.uk
USA – www.albinism.org

Both links are support groups explaining the genetics, types and effects of albinism as well as offering discussion forums

Why blog?

When my son was diagnosed many years ago the Internet was not readily available as it is today. Information on albinism was sparse and we had to feel our way with snippets of information gained from here and there, feeling frustrated that as a health care professional the only information I could find related to lack of pigment and nothing advising us on his long term vision prospects and how best to meet his needs.

This is an informal, personal view of the hurdles we have faced and the strategies we have adopted to help our two children with albinism. Our children have straightforward Oculocutaneous Albinism, probably type 1b and have a moderate visual impairment. We are a white, fair skinned family so we may not face all the issues some of the rest of you are facing but I hope you find the odd gem useful that makes the difference. I decided to share strategies for problems resulting from albinism that mattered to us – you know the sort of information and ideas that we wanted to know about to help our children but have had to find about as we went along. I simply had no idea of a lot of the difficulties my children were experiencing and continue to be amazed that despite the knowledge I now have with Albinism matters, we still discover situations the children cope with unaided that are improved dramatically with some very simple changes.

Just as Albinism differs from person to person, albinism matters differ too. What helps my children may not be the solution you were looking for but if my blog raises your awareness of Albinism matters or provides you with ideas that can be adapted to your situation so that another child with albinism (or their parent) has benefited then all the hours spent compiling Albinism Matters has been worthwhile. A huge proportion of Albinism Parenting is realising the problems that exist in the first place as our kiddies are so good at adapting and coping that we are not always aware of what is really happening under our noses.

Amazing Children

Visually impaired children have the natural ability to overcome many difficulties independently. As a normal sighted person I have been astounded at realising just how little I use the ability to really see. My children on the other hand are extremely observant and make maximum use of their vision. As a parent of children with albinism, you have to think very differently. Yes our children do lead normal lives BUT with strategies that allow them the helping hand needed to reach their potential.

My Information sources

I do not pretend to be an expert on Albinism, I am just a Mum who has asked lots of questions and listened to those offering advice and support. Some of the strategies are my own ideas, many are helpful hints I have picked up from the Albinism Fellowship and other parents of children with albinism, our Advisory Teacher for Visual Impairment, our Mobility Officer, NOAH, Albinism International, the children’s schools, family, friends and of course my children.