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.