The Ocean of Emotion; medical interventions

People often hear Boston’s story and comment how strong we must be to go through everything, but the fact  is our challenges are not constant. For our family the medical journey is like a swim in the ocean. Some times it feels like you have just dived under one wave and are up gasping for air as the next crashes on your head. But there are many many days where the ocean is so calm you can see the bottom and surfers sit around looking bored. This extremely sophisticated pie graph demonstrates exactly what I mean.

Ocean of Emotion panaramaWe’ve had a tidal wave recently. Boston has been out of the surgery woods for 18 months now, its been pretty blissful. But last month one of our routine opthamology check ups uncovered that Boston’s optic nerves have mild swelling. This is a sign that there could be intracranial pressure (ICP or pressure in the head). It does not come as a surprise, we always knew this was likely on the cards for our little saethre-chotzen warrior god. But…it still stinks like a week old egg sandwich.

Rewind and the last two months have been choppy waters. In December we found out Boston has fluid in his middle ear, resulting in mild hearing loss and the possibility of grommets (not a big deal, but added to past surgeries its ONE more anaesthetic). Then there has been lots of routine check ups (paediatric, ENT, craniofacial clinic) and new therapists (physio, OT and speech). After six months of relatively nothing we’ve been going pretty flat out.

Fast forward to getting the discovery of swollen optic nerves and possible ICP, we actually get to go straight from the Ophthalmologist to the Cranio team who happen to be having a clinic “Just into the lift and up one floor, they are waiting for you”. There are questions and explanations and possibilities. A CT is ordered (oh great ONE more anaesthetic) and we leave with a lot of if’s, but’s and we have to wait and see’s. My mind races as the possibility of another big surgery hits, our second baby is due in 3 months and I wonder how that will affect my ability to be there for Boston, seven days in hospital recovery with a newborn ahhhhhhhhhhh!!!!!……This is the tidal wave.

After a couple of days the wave passes. I did a little crying it out…family and friends are there to share the weight…and happy go lucky mindset kicks in. Sure the sea is still rough but we have a life boat… all in all life could be a lot worse, but lets be honest… can not wait to see those bored surfers again.

“Why does his face look weird?”

She said with a look like she was trying to solve a puzzle, all frowns and confusion. I am not speaking about a specific little person but this look and similar questions is something we encounter every week. Predominantly from children, an occasional adult asks too, some almost as direct and others stumble over a few umms before getting out the intended query.

IMG_2049_fotorBefore I even fell pregnant I would think about the children I wanted and the thought, or fear I guess, would cross my mind “I hope they are okay, I hope they are normal”. I get nervous even typing that sentence because it sounds so completely horrible. I know I was not alone with that fear, Steve admitted similar thoughts and I can only assume most of the human population just want their children to be “normal”. When Boston was born I fell head over heels in love with him, I would not swap him for any baby in the whole wide world. But I did have times of absolute grief when I realised he was automatically put in the “different” pile.

I worried how it would affect him. His emotions, self worth, getting ahead in the world, being accepted by others, his love life, would he be teased or bullied, would this lead to other problems. And yes I will admit that when I first saw those puzzling looks and heard comments about “that baby’s head” my mama bear bristles stood on end and my heart ached for him. I just wanted people to see him as Boston, not as the baby with the different head and not as the kid with Saethre-Chotzen Syndrome.

But guess what? We are human and humans need to understand what they see, they need to explain their world in part through this sense and they are also fearful of the unknown. To those who do not know him Boston will be someone who looks unique. He may be described in this way just like someone is described by the way they dress, the colour of their skin, the gait they walk or the height they reach.

Cameron Russel says it perfectly in her Ted Talk ” Image is powerful, but also, image is superficial” (a good talk to get you thinking). What I have come to embrace is that Boston IS DIFFERENT. The way he looks is not all of who he is, but it is a powerful part of that person. I do not want him to feel like he has to hide those differences or try to blend in with everyone else. I want him to be proud of each piece of the puzzle that makes him whole and I want him to feel confident to express who he is to everyone he meets.

IMG_3399_fotorWhat I want for myself is to leave all the prejudices I unconsciously had so far behind me they look like a smarty on the moon. There were times when I would be scared of those who were different, those who were obviously harmless but still different enough for me to feel uncomfortable, scared I would not act correctly or that I would offend them (a working progress of awareness). Now I am the one seeing puzzled stares I can tell you that when someone takes the time to actually voice their questions (in a polite way of course) I really admire them. I wish that we could all feel safe and confident to embrace each others differences, maybe then there would be less fear, less bullying, less trying to hiding our true selves. I ask that anyone who can relate to what I am saying or feels moved at all, please practice acceptance of others and teach your children through all you do and say.

So what do I say to the question “Why does his face look weird?” ….well simply “That is just the way Boston was born, we are all born different and that is a really fantastic thing!”

Boston joins the X-Men (Saethre-Chotzen Sydrome)

My power is charisma...whats yours?
My power is charisma…whats yours?

” We found a mutation!” said the geneticist with a big grin on his face…my mind goes ” Did you just say my son is a mutant???”

Okay so lets put this into context. When Boston was only a month old his blood was taken for DNA testing. Dr Gabbet was fairly sure his craniosynostosis would be linked to a syndrome, 9 months down the track they were still searching. Not all cranio kids have genetic abnormalities, for many there is no explanation to why, but Boston had lots of physical indicators pointing to the contrary.

So when they finally found the mutation in his TWIST1 gene a big piece of the Boston puzzle was found. Despite my initial gawk at my little man being labeled a mutant (please note that at no point did any doctors refer to Boston as a mutant) it is nice to have an explanation, another part of his story, and a relief that there was not a more sinister syndrome behind everything. I am still learning about Saethre-Chotzen Syndrome and are yet to have a full follow up with Dr Gabbet, but in short;

Saethre-Chotzen Syndrome occurs in 1 in 25,000-50,000 people (yup Boz is a rare gem) and  is caused by a mutation in the TWIST1 gene. This gene is in charge of making a particular protein that plays an important role in early development of bones, muscles, and other tissues in the head and face. Craniosynostosis and ptosis (drooping eyes) are symptoms along with a bunch of others that you may or may not have noticed in Boston. Next time you are lucky enough to give him a smooch (if you are indeed one of the lucky ones who has met Boston) check out; the shape of his nose and ears, his short gorgeous fingers, his narrow palate and wait for it….the dimple above his bum. There can be developmental delays (which we have experienced), although most people with Saethre-Chotzen syndrome are of normal intelligence. Not all people with the syndrome have every symptom, in fact many people go undiagnosed because abnormalities are so minor they are never noticed.

It has taken a little while for the new information to sink in but I am now embracing all that comes with it, much that I am sure Boston is yet to teach me. Our new question is whether Steve or I have passed this down or whether it is a new event in our families genetic history. If Boston has inherited the mutation we have some big decisions to make about extending our family…but more about that in another post.

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