Sucker punched by statistics

I originally started my blog in order to share some of the highs and lows of my life and hopefully make a few of you laugh. It's also been very therapeutic for me to be able to write again. As a teenager I used to keep a diary and would write endless amounts of whatever I wanted into fancy journals. Now I have the Internet and an audience. Little did I know how things would unroll and the response I would get. This particular posting has been kind of stuck in my brain and I have had a difficult time putting my feelings into words. Unlike my teenage diary I feel some sense of responsibility to both make sense and entertain you. I'm not sure if this entry will do either. I apologize in advance if reading it sucks hamster butt. Now that we have that out of the way.....

For those of you who have been regular readers you may recall that in January I posted Wishes and stuff..... That entry was about my son Andrew getting diagnosed with Autism. What you may not know is that Autism isn't the only condition Drew has. Let's just say that I've sat in more than a few chairs opposite a doctor, psychologist, or other professional and heard "Andrew has (insert condition here)". The first one came when he was about 5 years old. That was Tourette Syndrome. Basically Tourette Syndrome causes the person to have repetitive movements or sounds that they don't always have full control over. I will say I was relieved with this diagnosis because the other options the pediatrician was considering were brain tumour or Epilepsy. Tourette Syndrome is a relatively benign condition that can't kill you and will likely go away or at least get somewhat better over time. You can imagine that I had a "Yeah, it's Tourettes!!" moment in the doctors office that day. I did resist doing a happy dance around the room but don't think I didn't want to. Most people have seen Tourette Syndrome depicted on television or in movies as the person swearing uncontrollably. I will say that is a very rare situation. For Andrew most of his tics have involved movements like touching his nose, putting his fingers to his lips and blowing on them, tapping his wrist on things, blinking, or making an oh so frustrating sniffling noise like he needs to blow his nose....constantly....for days or even weeks. Some of the tics do cause other people to stare at us however in the big scheme of things it's manageable and not a major part of our everyday life. When Andrew was about 7 he was diagnosed with AD/HD. This wasn't a surprise since there is a strong family history of it and we suspected it for a while. At 9 they discovered he was quite bright but also had learning disabilities and then at 11 he was finally given the Autism diagnosis. So if you were keeping score that is 4 different conditions all in one kid. By the time the Autism diagnosis came last summer I felt like we had finally gotten to the bottom of things. It was a lot of stuff but nothing we couldn't handle as a family. But just when I thought it was safe to go back into the water...... I should have learned by now that the stupidest thing to do is to sit back and think "Wow, I finally have a good handle on life".

So do you remember back in high school in grade 12 math class when you sat there wondering when the heck will I ever need to know how to calculate the probability of two events occurring together? I have your answer. Listen up kids. It's when you are a 36 year old divorced single mother of two kids, a handful of pets, and apparently have too much time on your hands. That's when. For all of you who hate math please bare with me. I'll try to get to my point as quickly as possible and spare you my calculations. I will confess I had to brush up on my probability skills for this next part. I guess I should have paid more attention in class. So yes I did a bit of research for this blog and I did it all for you. No need to thank me. As if anyone would thank me for math. Ha ha. I crack myself up.

Statistically the odds of getting Tourette Syndrome is estimated to be about 1 in 100 but because so many people go undiagnosed this is just a best guess. Having ADHD is around 1 in 25, the most current stats regarding Autism is 1 in 106 kids born today will have it and 1 in 10 people are thought to have some form of learning disability. Taken together the odds are approximately 1 in 2.65 million of having all of those things together in one person. Okay some of you experts may disagree with the exact figure. Conditions like Tourette Syndrome, learning disabilities, Autism, and ADHD are often seen together so that could skew the results a little but for the sake of argument let's just agree on this number. I just don't like math and research enough to get more precise than this okay. Besides 95% of my readers won't like math enough either for me to bother putting in the effort. For the other 5% you have my sincere apologies for letting you down.

Because of the co-diagnoses up until now Andrew has been affectionately referred to in the Tourettes world as being "Tourette +++ "(plus, plus, plus) with each plus representing a co morbid condition. Doesn't that sound so much better than just being plain old "Tourette"? Personally I think that these 4 things should be enough for anyone right? So how did he go from 1 in 2.65 million to possibly being 1 in 185 billion....yes billion....just 2 short weeks ago?  Great question. You can relax the math part is over. Phew!! 


Push up baby at 5 and a half months old



Holding his own weight at 4 months

To explain I'll have to go back a little bit further in time. When Andrew was a baby he was strong and active. He was literally born kicking on the way out. Good memories!! He was also early with all his milestones. I used to think that the milestone charts at the doctors offices were way off because he was months ahead of the curve. Now some of you will probably assume that my memory of how strong he was has faded. I have included some photos to show that I wasn't just imagining it. He was Mr. Muscles. Then somewhere around the age of 4 or 5 years old something changed. It wasn't really obvious at first. It's not like I can look back and put my finger on a specific event. Just that somewhere in that time period Andrew's motor skills slowed down. He become more cautious and reluctant to try new activities. A few years later when Drew was in grade 3 I realized that he had neater printing in Kindergarten then he did currently. The pictures that he drew had less detail in them. Over time his hands started getting weaker and he would sometimes drag his right foot when he walked. I can't tell you how many times I mentioned these things to his doctors. Nobody seemed alarmed and I got lots of reassurance that it was nothing. Usually in the form of a look like I was completely nuts. I just called it "reassurance" to be nice but in reality they all thought I was bonkers. Finally last summer right around the time that I had pursued the private assessments for Autism Andrew was finally referred to a neurologist. Mostly because I think they got tired of me in their offices complaining that something more was going on. Of course getting a referral means a long wait especially when they imply in the referral that the child's mother doesn't have a clue. I really should write a book about how to win friends and influence people. Apparently I'm really good at it. Yah. So the wait seemed like forever but it was something I had fought to get for several years so I was glad to take it. As you may have already guessed that appointment took place 2 weeks ago. I was fully expecting to walk in and be told that Andrew was fine, I was just a worried mother, and I was indeed completely crazy as first thought. I sincerely expected that I would get through the visit and there would be a very simple explanation. I just hoped it wasn't that the men in white coats were on their way to pick me up for a "vacation".

Walking with a sharp stick at 13 months and apparently he was stable enough we weren't worried. Gulp.

After almost 2 hours with the neurologist I walked out of the office with one single piece of paper in my hand. A piece of paper that could change everyday of the rest of our lives. The paper was a requisition for blood work. Not just any old test though. A test for a genetic disorder that if true likely came from me, his mother. The condition is called Becker Muscular Dystrophy (BMD). The hallmarks of this condition is that a child will usually appear typical at birth. Check. Somewhere between the ages of 2 and 21 they will start to lose motor function. Check. It almost exclusively affects males. Check. Muscles can deteriorate over time. This is called wasting. Sadly I think we might be able to say "Check" to this one too. The condition occurs about once in 70,000 live births so is quite rare. It's progressive and there is no cure. Chances are pretty good that if he does have it he'll be in a wheelchair by his 25th birthday but maybe even sooner. Girls can also be carriers but rarely have symptoms. It is usually passed from mothers with the defective gene to their sons but could be the result of a spontaneous genetic mutation as well. So while I try to absorb such a huge possibility I also have to face the fact that I likely gave this to him too. I know it was the luck of the draw, blah, blah, blah. That doesn't make me feel any better. We have no known family history of any neuromotor conditions so it's not like I had any clue this would happen. I get that in my head. It's not my brain I'm worried about. It's my heart. On the one hand I know how strong I can be but on the other I worry that it won't be enough. I was strong enough for Tourettes, learning disabilities, AD/HD, and even Autism. I just can't help wondering how other parents in this situation deal with something as big as Muscular Dystrophy. 





Able to climb up slide by about 14months



I will say that we don't have a confirmed diagnosis yet and lets hope he's not 1 in 185 billion. Wow!! That's completely mind boggling isn't it? There is an estimated 7 billion people alive on the planet today. If the test comes back positive he very likely could be the only person with this combination in the entire world. In fact most scientists think that by the year 2100 we might reach 12 billion people. There may never even be another person in all of history or the future with this combination. Of course I haven't really looked into it yet but I'm guessing we'll be the only family at the support group meetings for this one. Hmmmm. And you thought you were a unique individual......