Wednesday, January 5, 2011


If you're a regular reader of my blog, you would have met my son by now. If you haven't, this is Erik. Erik has Autistic Disorder (AD), and the official diagnosis was only in March last year (2010). He is 3 years old.

This is one of Erik's cousins - my big sister's boy - Christian. As you can see, Christian has Down Syndrome (DS), also known as Trisomy 21 (T21). DS happens when a mutation occurs on chromosome 21. Any baby can be conceived with this, but it is not actually genetically transferred as such (ie. from parent to offspring and so on). However, the chances of this mutation increase with maternal age. My sister was only 33 when she had Christian. He will be 3 this month. He is only 5 months younger than Erik.

This is Giuseppina, another one of Erik's cousins. Everybody called her Josie. She is my little sister's daughter. Right now, she is with the angels in heaven. She passed away Christmas Eve morning 2008, less than 2 weeks before her 2nd birthday (which happens to be today, hence the extra little post after this one!) She was around 8 months older than my son, so if she were here today, that would make her 4 years old. She had a neurological disorder, which the doctors could not find a name for. Rather, her diagnosis was a collection of symptoms. Pontocerebellar hyperplasia was one of them. She had poor/ degenerating myelination of the brain and neurological cells. She suffered seizures, chronic vomitting, optical blindness (ie. her eyes probably did work but her brain could not process the information), gastric problems, breathing problems, excessive phlegm...... There was alot of other stuff going on that I probably don't even know about too. My sister doesn't tend to talk about it much. Josie never made eye contact with her mother, never could speak, could not control her movements, never walked, sat, or even held her own head up. You get the picture.

And this little fellow, also Erik's cousin, is Josie's little brother, Stefano. He will be 2 years old next week. He has the same condition his sister had. He is also terminal, but right now, he is still with us and has celebrated his second Christmas (although he ended up in hospital for it), and plans are being made for his second birthday party too! This is a very big deal for my family.

None of these disabilities, except for Josie and Stefano of course, are related. They all have genetic or chromosomal origins - even in Erik's case, the evidence for genetics is strong, though not conclusive. Yet none of them are related to the other. For some reason, we have alot of disabilities among the children in our family. In fact, four out of the nine grandchildren born to our family have a disability. That's almost 50%. The first 4 are all fine. Since Josie though, every baby except the most recent one has had a disability. Those are crazy odds.

As I was talking with a friend recently, the subject of my family came up and I found myself talking about these precious kids. She had no idea. In amazement and sympathy she said that our family had really hit the jackpot. I couldn't help but agree. I'm sure there are other families out there worse off or even comparable with ours, but I must be honest, I don't know any.

My other little sister (yeah, I have 3 sisters and 1 brother) is a bit worried about having children - and understandably so. At this stage, she isn't married, so children are not in her immediate plans anyway. I think she wouldn't be normal if she didn't worry about it even just a bit, despite the fact that none of these disabilities has anything to do with the other.

At some point, I think everyone in our family has asked the question, 'Why'. Why us? What have we done to deserve such sorrow? Every time we have been faced with a realisation that something is not right, we have wept and wept and wept with grief, completely heartbroken, wondering how much more we can take. Apparently, we can take alot.

Each of us in our own way has come to terms with it though. We consider ourselves blessed and lucky. These precious, amazing children have enriched our lives so much. They have taught us so much. They have changed us so much. They are lavished with love... cherished more than words can say. It's like a filter has been removed from our eyes and we can see how precious and how valuable and how frail life is; that it is to be treasured and that we should make the most of the time we have here. Not one of us can ever look at another human being the same ever again. They have taught us compassion. They have taught us not to judge. Once upon a time, we would barely have noticed anyone else with special needs around.... apart from the odd one or two at school. But now, we seem to notice them everywhere, these precious ones. And in our family especially, we truly have hit the jackpot :)


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