What is Apert Syndrome?

Marshy and his mitten hands
Marshy and his mitten hands

There are two great things things that have come out of this rocky experience of Marshall’s early life.  The addition of a second son to our family is the most important.  The second is the amount of time I now have each day and night to sit with my thoughts.  Before I met Bridget, I went through a time when I slept longer and longer hours.  I learned to love sleep after spending a decade or more sleeping only a few hours each night.  In retrospect, perhaps it wasn’t healthy to turn in at 7 p.m. each night, but at the time, it was what I craved.  The last few years, I’ve found myself short on time for myself, but now I’ve rediscovered the joys of being up late at night when everyone else is asleep.

And through it all, I’ve had one faithful companion – my sweet Netflix.

Just this past week, I watched the first season of The Killing.  In it, there’s a mother who looks back at a childhood scrapbook where she prepared page after page to document her future travels.  England.  Spain.  The world.  And decades later, as she flips through it, she sees that every page is still blank, save for the titles.  She never did fulfill her dreams.

When you become a parent, no matter how hard you try to let your child live their own life, it’s impossible not to have some hopes and dreams for your baby.  Some, like my parents did long ago, hope for academic success and a comfortable life for their child.  Others dream that their son or daughter will become the athlete they never managed to turn into.  Of course, we all want our baby to grow into a happy, healthy young man or woman.  Happy, healthy, and a good person.  That would be my wish.  Marshall’s diagnosis of Apert syndrome has no effect on those dreams of mine for him.

Sometimes, at night, as I’m laying him back down into his crib and I look at the outline of his round cheeks and the little pointed chin he inherited from his mother, I dream of shooting baskets with him like I did with my father.  I imagine our family rock band, instruments already assigned by Quinn – Quinn on bass guitar, Marshall on drums, Daddy on electric guitar, and Mommy singing.  I think about taking my boys on cross-country bike trips and having them help me learn once and for all how to skateboard properly.

Will Marshall be able to do these things?  What the hell is Apert syndrome anyway?

Fat rolls are good for hiding cheesy milk leftovers
Fat rolls are good for hiding cheesy milk leftovers

If you’ve read any of the previous posts, chances are, you’ve Googled Apert syndrome at least once.  I haven’t done that since the first week of Marshall’s life.  The internet, in addition to its endless stores of information, is surely also the cause of much of the world’s anxiety.  The Wikipedia page, while containing some useful information, is hardly a source of comfort to parents of Apert babies.  Google images?  I can’t do that again.  Our geneticist tells me much of the information that comes up is incorrect or outdated.  I wish I had known that earlier.

My old friends will be familiar with the fact that I did not do particularly well in school.  I don’t hide the fact that I was a poor student.  In fact, I like to joke about it, probably as a defence mechanism.  If I had known twenty years ago what I know now, you can bet your last dollar that I would have been the best student in all of my physiology classes rather than the guy who couldn’t figure out the difference between a lobe in the lung and a lobe on the ear.  Fortunately, Marshall’s care plan includes geneticists who have been patient enough to answer every question we’ve thrown at them, from causes to symptoms to miracle gene therapy treatments.

For those of you who have not yet done the Google dumpster diving, Apert syndrome is caused by a mutation on at least one of the chromosomes in the tenth of twenty-six pairs of chromosomes that make up the human genome.  There are a few mutations that cause Apert syndrome, and two of them are the cause of approximately 98% of all cases.  In Marshall’s case, the testing checked the suspected affected area of his tenth pair of chromosomes, and sure enough, there is a single error.  Instead of a guanine , there was a cytosine.  That’s it.  That’s basically all it took to cause his syndrome.  I joke that if my students’ spelling determined the human condition, we’d either be wiped out or have forty-seven fingers and toes.

There are several characteristics of Marshall that immediately led his team at Sick Kids to suspect Apert syndrome.  He has some premature fusion of the sutures in his skull.  This craniosynostosis can cause many problems, including increased pressure on the brain if left untreated with surgery at some point.  Apert syndrome is also characterized by a sunken mid-face, which can lead to problems with breathing, and an unusual physical appearance including the bulging of the eyes.  Marshall has choanal stenosis, which is the narrowing of his nasal passages.  This makes his breathing a little noisy and snorty, but of more concern is the fact that when he becomes congested from a normal behaviour like crying for food, his breathing can become laboured.

Apert syndrome also causes differences in the limbs.  Marshall’s hands are like little mittens.  His thumb is separate, and his other four fingers are fused.  They are released through surgery, and while he will likely have five fingers (some with Apert do not have five fully-formed fingers, apparently), there will be some differences in the way his fingers move and bend.  Some of his toes are also fused, although his surgeons do not think it will be necessary to perform any surgery on his feet.  Through an Apert Facebook group, Bridget has also pieced together the fact that almost everyone with Apert has some mobility issues with their shoulders.

Marshall’s physical symptoms appear to be relatively mild in comparison with some cases we have seen.  It gives me no pleasure to know that there are boys and girls at the hospital who have it worse than him, but it would be dishonest to say it doesn’t give me some measure of relief to know that perhaps his surgeries will be less invasive, painful, numerous.  When I give him his precious bottles of milk, I love to slip a finger into his tiny mitten hands, and feel him grasp it as tightly as his affected joints will allow him.  I kiss his little mittens with a determination in my heart that I will try to teach him to play the piano one day.  I look at his beautiful little feet, with his little webbed toes and the one big toe that is at an angle, and savour the smell of his unsullied soles as he kicks with annoyance at my touch.

Developmentally, we’ve been told and we’ve read that one of the largest indicators of how well an Apert baby will do as he or she grows is the family’s socioeconomic status.  I assume this has to do with parental involvement and the ability to seek out early interventions for any problems that may present themselves during early development.  Many go on to successful academic careers, and Bridget has communicated with many who have raised families of their own.

Until recently, if given the chance to travel back in time to change something about my life, I might have chosen to play winning lottery numbers, worked up the courage to talk to that waitress at the Greek restaurant on Broadway in Vancouver when I was a student at UBC, or maybe not had so much vodka that night with Bernard.  But now, my only real regret in life (I don’t really regret not asking the girl out at the restaurant, Bridget – there’s no way she can make coconut chia pudding like you can) is that I didn’t work hard enough to become a doctor like my parents wanted me to be.  Who knows?  Maybe in a parallel universe, Dr. Dennis Ku is a revolutionary geneticist who makes the lives of all Apert babies more comfortable.

In this universe, with my limited medical knowledge of his condition, Marshall will have to settle for my intrusive hugs and kisses, like the ones I will aggressively give him when he next wakes up with a wet diaper and an empty stomach.  Actually, the more I look at him, the less I think his face looks different.  A world where every baby was as cute as my little Marshy wouldn’t be so bad.

Sweet dreams
Sweet dreams

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