I have been Chronically ill for seven years.
This year I, along with my brother, was diagnosed with a connective tissue disorder. It is said that my other brother also has the condition, but he is yet to undergo full testing.
We have a mix between Marfan’s Syndrome and Ehlers Danlos Syndrome, each of which are connective tissue disorders. They are both debilitating, and both life threatening. I fit more into Marfan’s, my brothers fit more into EDS.
This blog is about learning you have a genetic condition later in life, and all the pieces of the puzzle beginning to fall into place.
But, despite knowing what our futures may hold, it is ultimately about the fact that our genetics will not determine our futures.
I based this song very much on the lyrics ‘Wildest moments’ by Jessie Ware, please be encouraged to listen to it as you read.
“It’s an important point to realize that the genetic programming of our lives is not fully deterministic. It is statistical – it is in any animal merely statistical – not deterministic.”- Richard Dawkins
It was pre-determined of course, long before I became familiar with the term Autosomal Dominant. It would be easy to think that it was an accident, an anomaly, a chance mutation. Sometimes these things just happen they would have assured us. But of course, three matching anomalies don’t just happen in the same family. No one has luck that bad, despite appearances to the contrary.
My parents are soul mates in every sense of the word. They are a perfect fit, hopelessly destined in their opposites. They are the two odd socks in the basket who, when you bring them together, make the most wonderful puppet. Somehow, despite it all, they match.
I have her eyes. They change colour in the sun. People remark on them, a backwards compliment. Your eyes are bizarre. They are wonderful. And I smile. I got them from my Mum.
The boys have his shoulders. So broad, so muscular, the ladies smile. My brothers never were great at modesty, and strut with a greater sense of pride.
I have Dad’s words. Nan claims that he always was going to be a journalist. Dad denies it vehemently, but with each of my successful publications Dad reminds me of the career he was once destined for. We leave each other words of the days. He will burst into laughter at the work canteen. Interdigitate. I will roll my eyes on the train. Discombobulate. We are bound together by the print within our tongues.
The boys have Mum’s gift of the gab. B has a voice of silk, while J has them splitting at their sides with his latest antics. Together they could sell snow to the Inuits, and I have no doubt that they have already tried.
Whether it was pre-determined is yet to be understood. Perhaps it was written in the stars. Nan assures me that it’s all a part of God’s plan, while Mum reassures me that everything happens for a reason. Dad isn’t quite as comforted by his belief in statistics anymore.
Together, my parents created three statistical anomalies. Autosomal dominance means that only one party is likely to be responsible. And for this I am grateful that we will never know which, not unlike the firing squad with one blank gun. Guilt is the one thing surest to crush any parent.
The picture was nothing but a blur for the longest of times. We didn’t enter this world with the knowledge that we were genetically imperfect, our birth notices didn’t announce the birth of my parents lacking genomes. Looking back at our photo albums, it all makes sense of course. But it’s easy to look back with acquired knowledge and not understand how we missed what was staring us in the faces for so long.
Being diagnosed with a genetic condition later in life is no different to being told that you have been using the binoculars upside down for all this time. Suddenly everything that was once a clash of confusion comes into focus, and it cannot be unseen.
Thunder filled our skies, and smoke filled our family home, curling the childhood happy snaps. Something was amiss. But of course, until you see flames, you can continue to fool yourself that the smoke is fog, and the fire is just the flames of paranoia.
Brothers have been competitive since first light, and mine are no different. As little ones, they competed to see who could dig the furthest in their sandpit. As they grew, they competed to see who could dislocate their arms the most, their own pits contorted to match the horror on my parents faces.
We were tall, and so was Daddy. That was nothing unusual. But we were too tall, and too thin. I would return from school each afternoon, distraught at having been called the Spider girl once more. Dad held me tight. ‘Jess, when you are 18 and being paid a million dollars to walk down a catwalk, they won’t be calling you names anymore’.
Two years later, I was confined to a wheelchair, and my catwalk future became my catwalk past.
My brothers and I became locked in a game of Russian roulette. There was one full bullet. One half. And one blank.
I took the first hit, and to my own relief, the heaviest. I hated them for it of course. Why me? Why now? What did I do that was so wrong? What did they do that was so right? As they went to school, to parties, on first dates and school camps, I hated them from my hospital bed. But with time and disease comes maturity and understanding. If I was given the chance to swap my bullet, I would change only one thing.
I would take all three for them.
And at times, it almost seemed like I had.
Not a single joint, muscle or bone was left unscathed. The catwalk had long been replaced by my own parents having to feed and dress me. Next it attacked my reproductive system, my chances of one day having a mutant family of my own. For months on end I laid in a pool of my own blood, and questioned the point of it all. Then came my heart.
B. was given the half bullet.
His ears were cupped and adjacent to his little head. His cuts and slices would never heal, despite my Mum’s desperate attempts with aloe vera and sutures. His skin stretched as far as his imagination, and how we loved our little gumby brother. Last year he picked up a Frisbee, and dislocated his knee. And it never stopped dislocating since. Each morning in the shower, gritting his teeth, he would tearfully place his patella back in place, and hobble off to school.
This year he underwent a full knee reconstruction. The surgeon casually remarked ‘Oh yeah there was nothing actually holding his patella in place anymore, it just floated’.
When I learnt that his heart was spared, I wept tears of relief. But I would be lying if I were to say that, in that moment, I didn’t hate him for it, just a little. That hate was replaced with overwhelming guilt when his little knee never healed.
J is the blessed one in this tragic trio. It’s funny how disease changes our idea of what it means to be blessed. He wasn’t spared, that much is clear. All you need is to spy him laying on the couch, eating MnM’s out of his pectus excavatum to understand this. He is towering of course, and how the ladies admire his ability to fill a doorway. The guys are equally impressed by his ability to dislocate his shoulder for the most delightful of party tricks.
Of course, the true extent of his bullet is yet to be understood.
He refuses to have his heart tested.
He doesn’t want to be like his big sister.
From the outside, everyone wonders why we try.
It would be easier of course to scream unfair play, and spend our lives begrudging biology, the healthcare system, the government, anyone and anything which could possibly have determined our reality. It would be easier for my parents to stop working full time, and to care for us full time instead. It would be easier for me to spend my days at home, rather than pushing myself to the extremes of my genetics every single day, simply so that I can say I am a nurse. It would be easier if we said goodbye to the simple pleasures so that the $15,000 per year in out of pocket medical expenses were more easily afforded. It would be easier if B dropped out of school and spent his days preventing his next dislocation, rather than putting himself back together in between classes.
The truth is, our genetics do not need to pre-determine our lives.
We share a genetic condition. That is pre-determined.
I will fight for my life, for the remainder of it. That is pre-determined.
B will spend the remainder of his sliding in and out of place. That is pre-determined.
J’s children are just as likely to take a hit from a full bullet as myself. That is pre-determined.
Each of us will continue to develop more complications. That is pre-determined.
But that is where any pre-determinations end.
Because in our wildest moments, we are not a family of medical Zebras. We are our greatest. We are laughter in an emergency room, and laughter in our lounge room. We are fights in the backseat of a car, and arguments in an ambulance. We are holidays on the riverbanks, and we are holidays in the hospital cafeteria. We are family portraits with the golden retriever, and we are family portraits with hospital gloves pulled over our heads.
This is my family.
If you look closely, you will see that it doesn’t matter how pre-determined our genetics and their diseases were.
The truth is, it never really did matter.
As long as we are together, each of us can be our greatest.
Our statistical significance is that we will continue to try.
And this is why.