Albinism

Master Six - www.myhometruths.com
Master Six - www.myhometruths.com

Our Story

Our son was born full-term via emergency c-section. He took the fancy of most hospital staff who could not get over just how light his hair was. As my husband and I are both blonde and my husband was white haired as a young child we didn’t think any further about it.

We did notice that our son’s eyes would glow at certain times but he was our first child so we thought it was just some weird newborn thing. At his 6 week child-health check, the nurse expressed some concern with his vision and referred us to a specialist for investigation. We went along thinking it would be nothing and we would go on as before, but that was not to be.

The specialist looked at our 11 week old cherubic baby boy and said he knew exactly what was wrong with him. He said he had albinism, that he would have a vision impairment that would result in him never being able to drive and that we would have to take all possible measures to protect his skin from the harsh Australian sun.

I remember asking him whether he would have ‘red’ eyes (they were and still remain a lovely blue) and he told me that was a myth – the first of many myths about albinism that I would encounter. I managed to keep it together as we settled the account and organized the first of many ongoing return appointments but I lost it completely when we got to the car.

My uppermost concern? That my boy would never be able to drive a car. I mean, all young men drive and take pride in their cars. To have that chance taken from him even before he reached 3 months of age, that truly undid me. It sounds silly now, but that was honestly what made me cry that day – it was the grief of a lost future, his future, and the uncertainty that surrounded his diagnosis.

Amid our grief at his “lost” future and our uncertainty about his diagnosis we were contacted by the Royal Institute for Deaf & Blind Children. They became his (and our!) guardian angels. Within a few weeks they had commenced regular early intervention sessions at our home which concentrated on getting our son to become more visually aware and more comfortable with exploring his environment.

He began pre-school with them and developed a love of reading and writing from those early days of visual stimulation. Now, at a mainstream public school, he utilises the services of Vision Australia and Guide Dogs to help him navigate his school environment, safely explore the world around him and recommend visual aides to maximize his vision and help him keep up at school.

While he just shy of being classed as legally blind (his vision is 6/48 which means when he looks at something 6 metres away it looks as if it is 48 metres away to him) he can move about without a cane or a guide dog. However, we are closely monitoring his progress as his visual scanning when out and about is not good and he tends to rely on holding onto to someone or looking at the ground to get his bearings.

Apart from the vision impairment my son also has photophobia (sensitivity to glare), nystagmus (constant involuntary movement of the eyes) and an extreme sensitivity to the sun and UV rays. Even in winter we slap on sunscreen to try to prevent sunburn and he wears long-sleeved shirts year round to reduce his exposure to the sun.

So now I’ve recounted our story, here’s the low-down on albinism from the experts…

What is Albinism?

Albinism is a genetic condition that results in a lack of melanin or pigmentation in the hair, skin and eyes. The condition can present in a few different ways, the most well-known being Oculocutaneous Albinism which means the hair, skin and eyes are affected.

The following information has been taken from the US National Organisation for Albinism and Hypopigmentation website. You can also find further information from the Albinism Fellowship of Australia website.

Albinism refers to a group of inherited conditions where there is little or no pigment (melanin) in eyes, skin or hair. One person in 17,000 in the U.S.A. has some type of albinism, which affects people from all races. Most children with albinism are born to parents who have normal hair and eye color for their ethnic backgrounds and sometimes people do not recognize that they have albinism at all.

A common myth is that people with albinism have red eyes. In fact there are different types of albinism and the amount of pigment in the eyes varies. Although some individuals can have reddish or violet eyes, most have blue eyes. Some have hazel or brown eyes. However, all forms of albinism are associated with vision problems.

Vision Problems

People with albinism always have problems with vision (not correctable with eyeglasses) and many have low vision. The degree of vision impairment can vary – although many people with albinism are legally blind, most use their vision for many tasks including reading and do not use Braille.

Vision problems in albinism result from abnormal development of the retina and abnormal patterns of nerve connections between the eye and the brain. It is the presence of these eye problems that defines the diagnosis. Therefore the main test for albinism is simply an eye examination.

Skin Problems

While most people with albinism are fair in complexion, skin or hair color can not be relied upon for a diagnosis. People with many types of albinism need to take precautions to avoid damage to the skin caused by the sun such as wearing sunscreen lotions, hats and sun-protective clothing.

Types of Albinism

Oculocutaneous (pronounced ock-you-low-kew-TAIN-ee-us) albinism (OCA) involves the eyes, hair and skin. Ocular albinism (OA), which is much less common, involves primarily the eyes, while skin and hair may appear similar or slightly lighter than that of other family members.

More Information

Feel free to check out this link for more articles about our personal experiences with albinism.

If you have any further questions feel free to send an email to kirsty@myhometruths.com, leave a question on the My Home Truths facebook page or contact me on twitter @MyHomeTruths.

14 Responses

  1. Sif says:

    Hi,

    I just found your blog through my followers (thanks!) and then I found this page and just wanted to say one of my closest childhood friends had albinism. I met her when I spend a year at a school for the blind and vision impaired. I’m legally blind myself – and so am not allowed to drive. So, I guess I just wanted to say – I hear you! I look forward to reading more of your blog.

    Cheers

    Sif

    • Kirsty says:

      Hi Sif, I can’t believe it took me so long to discover your blog! I’m looking forward to coming back there soon.

      I didn’t know you were legally blind – you’ve achieved so much, it’s very encouraging for me to see in the context of my son’s vision.

      I used to work with a women with albinism too, she was lovely and didn’t let her vision impairment stop her from anything. Thanks so much for commenting and dropping by – I look forward to reading more of your blog soon too!

  2. I have a friend with albinism as well! His eyes must not be affected as much though since he does have a driver’s license.

    • Kirsty says:

      There is definitely variations in visual acuity for people with albinism. Some can drive and many can’t. My son probably won’t (his eyesight is just short of being classed as legally blind) but he can get around and see enough to keep himself out of trouble. We are focused on building his independence skills and have started some bus training with him. He’s not a fan but we’ll keep trying!

  3. Kate says:

    Wow! You write so eloquently. I cannot believe how similar our experience was. My son was diagnosed at 8 weeks with Congenital Nystagmus (ultimately ocular albinism) and we must have had the same specialist because the three things I remember him telling me was best case scenario was vision impaired and worst was blind, he would never drive and never see the moon. I like you cried for his future, the losses of my perceived potential for him and was grateful for his presence and overall healthiness. That was 5pm on a Friday I rang RIDBC Hunter 9am Monday and they too changed our lives. 9 years later with albinism testing at the Sydney eye hospital to confirm his diagnosis he is doing well at main stream school. Funnily enough not having the white hair makes it much harder for people to comprehend the diagnosis and I am forever explaining the difference between Hollywood and reality. Congratulations on your blog. Your honesty and transparency is inspiring. I think we are meeting at the albinism awareness day afternoon tea at RIDBC and I look forward to it.

    • Kirsty says:

      Kate, thanks so much for this comment! I’m so looking forward to meeting you and your boy. I would imagine in some ways it would be harder just having the ocular albinism without the more visible signs of the condition although we still do our fair share of explaining here too (Hollywood has a lot to answer for!)

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