We already had a beautiful, blonde-light brown haired little 3 year old boy, Scott, when Alana was born. I had an ultrasound scan at 37 weeks which was so clear in detail that we knew not only that she was a girl but we could see in the image her eyelashes and a very good crop of hair.
What we didn't expect was her hair to be white! And I mean WHITE. I had been born with a mop of long black hair myself which quickly was replaced with blonde hair, so this is pretty well what I had expected with my baby. Scott had a fairly small amount of hair, mostly a blonde colour. The obstetrician who delivered Alana did appear a little shocked by the white hair and may have had suspicions but we were quickly oblivious to colour and assumed we had a real blondey! To be honest if she had arrived with green hair striped with purple I would have still said she was the most beautiful thing I had ever seen, I know everyone says that about their own baby but, wow, she was a stunner!
The following day the Paediatrician did his routine visit and made some remarks about there being a possibility Alana had albinism. I guess I was a little surprised by didn't read too much into it and after making casual remarks about it to David, I more or less shut those comments out. The Paediatrician had asked questions about what colour her eyes were and did she as such 'look' at things but a newborn pretty well never opens their eyes enough for you to really look at that sort of stuff clearly and she wasn't going to cooperate. I said her eyes were a kind of charcoal greyish colour with a hint of blue but I really couldn't describe the colour beyond that.
The following day the Paediatrician came in again armed with a little light-torch thing and attempted to see how much light reflected off the back of her retinas or something. He then felt sure enough to say well, yes, she did have albinism. I think from that point all I absorbed was 'Albinism.... severe vision impairment.... light sensitivity... UV... white... can't drive... blind...' Then I remember feeling this huge wash of emotion and crushing sensation of despair for the future of my perfect little baby girl and all I wanted to do was cuddle her tightly. What little sinks in from that first shocking announcement leads you to all the negative things and feelings of loss and grief of the hopes you hold for all your precious children. Can't ever drive a car and know the freedom of being able to just get in your own car and let the road take you whereever you want. Won't be able to choose any career she wants. Will feel ostracized and different. Won't be able to sit and gaze at the stars. Won't this. Can't that. Shouldn't this. Won't that. I know the Paediatrician went on about the different types of albinism and the complications and expected outcomes but by then I wasn't able to get any more information into my head. Of course I then broke into a sobbing mess and he apologised for giving me this diagnosis when I was on my own - David was not due to visit the hospital for another 2 hours! I regained my composure and thanked him for everything and asked if he could repeat everything he'd said tomorrow when I could better absorb it and David could hear a correct version as opposed to the blubbering version I knew I would deliver mixing up all the vital facts.
The worst thing was that immediately a bizarre recollection of watching, by chance a few years earlier, an episode of 'Ripley's Believe It... Or Not!' in which they featured someone with albinism and in true TV sensationalization they made the focus of the topic how rare and debilitating the condition was. I certainly am not a fan of 'Ripley's' and can't say that I have watched very much of it at all but I remembered the interview with this poor fellow who talked about his vision problems and he was sitting in a very darkened room because 'normal light is extremely discomforting to his eyes'. I recalled so vividly thinking that although I had albino rabbits and mice as a pets, I hadn't realised the severity of the implications on their vision. Good old 'Ripley's' made it seem as though this poor guy only ever ventured out at night, was constantly intimidated by non-compassionate dolts and his life was really quite reclusively sad. It must have been either extreme irony that this struck a chord with me enough to remember such television claptrap or it created such a sad impression I truly felt sorry for people like this poor man.
After the Paediatrician left I remember thinking 'Right! I'll give my self 2 hours to wallow in pity for my daughter, get all the negatives straight in my mind to get it all out in the air and feel miserable - then I will just DEAL with it and get to doing whatever I can to give my daughter the very best of... whatever the hell I can!' And I did think of everything from the social taunting of looking different from 'normal' and the extreme challenges she has no choice but to face, to the depressing fears of all the simple freedoms that would be denied her. But no matter how hard I tried to concentrate on extracting the 'negatives', for each 'negative' a 'positive' sprang straight back to mind.
I didn't last an hour before starting to count my blessings, plan my strategies for helping my daughter achieve and be her happy best and looked forward to getting started on doing something. My sense of humour, although a little black and warped at that point, began to surface and I guessed that the worst was over - we were lucky to have been diagnosed so early and be able to get information, support, guidance and perspective (my sister had spent years waiting for the diagnosis of her son's Asperger's Syndrome).
By the time David arrived at the hospital he copped the full blast of my yo-yoing rantings of Alana's condition mixed in with my declarations of just what my daughter WOULD get to do and what we could do to assist her. Between tears, quiet moments and impulses of ideas and strategies, we did have a few quiet chuckles as a coping mechanism. We discussed the lovely 'mood lighting' we would create in our home to make her comfortable, how Alana was the only true natural blonde in the family and she was the only person my pathetic best suntan of creamy beige colour would ever look impressive to.
I vowed and declared that no matter what, I would do whatever I could for our children's benefit and that my daughter would not know the meaning of the word 'can't'. She would grow up happy, healthy and confident, having a try at whatever she wanted to.
When our Paediatrician came back the next day things we had already somewhat 'turned the corner' (and I was determined to make up for withering into a blubbering mess of emotion). I was armed with a notepad of our questions which he did his best to answer but as this was his first patient with albinism he couldn't always give us certain answers. He told us about his wife knowing someone with albinism who had a great career and functioned very much 'normally'. He made basic suggestions about things we should take note of to tell specialists, kinds of toys and visual aids we could start to think about and environments which would be best for Alana's vision. There was talk of colours, contrasts, glare, sun protection, schooling and more - and by now I was is a much more receptive state to absorb all this information. Lastly, he made an urgent referral to a great Ophthalmologist.
Probably the worst thing about when your child is diagnosed with any condition is the waiting. Waiting to see specialists, waiting for test results, waiting to see how much they are affected and how well they function despite it. Of course many of our questions will take years to get answers for. The biggest question 'just what can she see?' haunts you the most and being told you won't really know until she can talk and tell you, doesn't really help. And besides, without our 'normal' vision to compare it to... how can someone explain what they are seeing all day, everyday?
Next hardest thing is telling your loved-ones. Trying to explain in calm, gentle, reassuring words that your new baby has a condition that is both severe and permanent is awful. We left it until after we had both talked to the Paediatrician and had a better understanding of what we were dealing with as well as a post-shock positive attitude! You are still in a fragile state yourself in those early weeks no matter how positively you bounce back. So you do your best to state the facts with a positive spin, touch of humour and patience. You hear the same questions you shot out yourself, answer those questions that you can and share the frustration of those you can't. I suddenly had so much empathy for medical specialists who have to break this type of news patients or parents... its hard. But once everyone sort of knows, it feels like a weight has been lifted and a burden shared. Family members got straight on the Internet finding information and resources for us within 24 hours. We hadn't even left hospital, Alana was 3 days old and we had pages and pages of information. Stories of 'someone who knows someone with albinism' start popping up and already you don't feel so alone or unique. Despite both David and I needing to be carriers of the genes for albinism, neither side of the families had any knowledge of any relatives displaying albinism characteristics.
With Alana's mass of white hair she became a bit of a celebrity for the midwives in the maternity section. Everyone who entered our room remarked on her beautiful 'blonde' hair - nurses, meal delivery staff, cleaners - it seemed everyone noticed her. Nurses affectionately referred to her as a 'surfie chick' (as in sun-bleached hair of girls in the surfboard set) and I called her hair her 'Christmas hairdo' as it was late November. David also became a topic of interest for a couple of the nurses as they expected him to have white-blonde hair like Father Christmas because mine was very dark brown! They seemed just a bit disappointed when he appeared with such normal browny hair. All up, Alana was genuinely complimented nonstop about her beautiful white hair and already that reassured me.
Before Alana was 6 weeks old we had our first Ophthalmologist appointment which mostly reinforced what we already knew or thought we knew thanks to a thick wad of information. We had wanted to know any sort of estimate of her eyesight but all we were told was from significant to severe impairment was expected. We did, however, have everything very well explained to us. As part of the consultation David, our son Scott and I had our eyes looked at, too, and our family history in terms of eye colour, photosensitivity and skin tonings noted. It was then that I was told that my eyes had similar features to Alana, and light reflected off of the retina at the back of my eye very much and to a lesser extent did so with David. Subsequent visits showed that I also have some sort of lack of melanin and that although I am lucky enough to have near-perfect vision, I am quite photosensitive and the back of my eyes developed different to 'normal' which is apparent by looking at my Optic Nerve. In some parts of the world they use the term 'albinoid' which basically means I display some albinism traits without actually having albinism and its visual impairments. My sister has also been found to have the same type of eye-traits but to a slightly lesser extent. Investigations into the relationship of my type of condition and autosomal recessive OCA albinism suggests there is some link but most carriers of the genes are completely free of any signs of the condition they carry. Genetics are an amazing thing, fascinating but sooooo complex.
We were also immediately referred to CanDo4Kids Townsend House who provide service to families within our state who have a child with a vision impairment that cannot be corrected with contact lenses or glasses and/or hearing impairment. This was perhaps the most positive of steps and the one that has been the most productive and supportive.
In summary, our diagnosis was a shock but thanks to the fact that Alana was born with so much white hair, we were fortunate to be able to have basically immediate confirmation, advice, information and support. Many babies with albinism, particularly those who may only have their eyes affected, can go many months without correct diagnosis. And other conditions affecting children can go years before they are discovered which can really add worry, stress and delay vital developmental help. Receiving news like ours can be overwhelming and devastating initially as you cope with the shock and grief feelings but there is assistance, information, support and others who have similar experiences to help you get going in the right direction. It takes time, understanding, good information and maybe a little help but after a while you really can dust yourself off and look forward to the future.