What Jeans for Genes Day Means to Me

As I’m currently on a “blogging break” I thought I would share this post I wrote for last years’ Jeans for Genes day. I hope you are ready to wear denim tomorrow to raise funds for research into genetic conditions such as albinism, a condition rather close to my heart.

It’s Jeans for Genes Day this Friday.

Jeans for Genes Day raises much needed funds for research into genetic conditions. All funds raised go to the Children’s Medical Research Institute (CMRI) which conducts genetic research to understand the genes important for health and development.

Did you know 1 in 20 children are born with a congenital abnormality or genetic disease? Scary statistic, isn’t it?

Jeans for Genes Day has always been important to me. At first it was important for somewhat superficial reasons – my birthday often falls on this day (not this year though – I’ve also dodged the Census Night bullet too, thank goodness!) and, as an added bonus, I got to wear jeans legitimately to school and to work.

However, ever since the birth of Gilbert Bear, this day has taken on a much deeper meaning for me. I thought I would share his story of albinism, a genetic condition that results in the loss of pigmentation in the hair, skin and eyes, and how this condition has affected every facet of his life.

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 nurse 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 him 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 of albinism.

Amidst 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 school, he utilises the services of Vision Australia as well as an Itinerant Support Teacher (Vision) to help him navigate the school environment and recommend visual aides to maximize his vision and help him keep up at school.

While he is legally blind (his vision is 6/60 which means when he looks at something 6 metres away it looks as if it is 60 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 (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.

There are some fantastic sources of information on albinism if you would like to know more. I recommend the Albinism Fellowship of Australia website and the National Organisation for Albinism and Hypopigmentation website as good starting points.

For more information on the vision problems associated with this condition you can’t go past the Royal Institute for Deaf and Blind Children website and the Vision Australia website.

Albinism is just one of the many genetic conditions that can crop up at anytime. As albinism is an autosomal recessive genetic condition, you need to have a faulty gene and meet that special someone with a faulty gene too in order for your kids to have a one in four chance of being born with the condition.

Our first was born with albinism while our next two were not – but, more than likely, they are both carriers of the gene (50/50 chance) so the condition could crop up again in future generations.

At least albinism is not life threatening or life-limiting. However, other genetic conditions such as Cystic Fibrosis are.

This is why supporting organisations like CMRI and awesome fundraisers like Jeans for Genes Day is so very important. So wear denim this Friday, visit the Jeans for Genes website and make a donation to this very important cause.

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6 Responses

  1. cathy says:

    That’s a heavy load for a little boy (and indeed all of you). Glad you have a wonderful organisation supporting you and helping Gilbert Bear. I’m sure he’ll lead an amazing life, and who knows, by the time he is of driving age, he may even be able to do so (technology develops so fast)!

    • Kirsty says:

      Thanks Cathy – you are so right about technology, who knows what will be available to help him in the next few years…
      For instance, he gets so much use out of the ipad (he can enlarge print and pictures so easily on that) and I could not have even imagined such things would have existed when he was first diagnosed – we certainly live in exciting times!

  2. TrISh says:

    Thanks for sharing your son’s story. I never knew that about albinism. He sounds like a champ managing his impairment. Glad he has support . . My boy and i have a genetic autosomal dominant disease too so jeans for genes is important to me too.

    • Kirsty says:

      Trish, I never really understood how common genetic conditions are until we had genetic counselling following his birth. I can remember them throwing about numbers and calculating odds and then working out how many people in the population would have to carry the gene to match the prevalence – it all gave me a bit of a headache! But that 1 in 20 statistic on the CMRI website is truly staggering…

      I’ve been wearing my jeans today and will be donating to the site, it’s such an important and worthy cause! Thanks so much for coming by.

  3. Debbie Palone says:

    I’m the mother of a child with albinism, my son is now 35y/o, I was told all the same things you are hearing, which surprises me in some respects in 1976 as much information wasn’t available as today. Please don’t believe everything you are told, at 16 my son after much hard work that included getting bi-optics my son received his drivers license. He has raced moto-cross, stockcars, and is the owner/operator of a very successful automotive repair shop. He became a ASE certified master mechanic at the age of 30. He has 2 children of his own that do not have albinism. Albinism is not a handicap or disability, mindset is what becomes/causes disability.

    • Kirsty says:

      Debbie, thanks so much for sharing your son’s experience. You are dead right, mindset is what becomes/causes disability. All that your son has achieved is wonderful and I hope my son’s story can eventually be as inspiring as well. It can be hard to focus on the can and not the cannot – I am guilty of this – i will try to be more positive and supportive of him and his goals. Thanks so much for your advice and example.

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