Up front, I will admit that I am completely incapable of scheduling and keeping track of Marshall’s health care. Left to me, he would miss most of his appointments. In case anyone is struggling with keeping track of what medical care your child with Apert syndrome might need, I’m going to try and keep an updated list of the facilities and professionals who are part of Marshy’s care.
If you think I might have missed an important area of care, please let me know and I will add it to the list. Note also that care and certain procedures offered differ in various parts of the world.
Plastics – syndactyly release; eventual cranial and possibly facial surgery
ENT – tubes for drainage of ears; tonsils and adenoids removed; partial septumectomy; monitoring hearing along with audiologists
Orthopedics – monitoring lack of normal shoulder range
Opthalmology – monitoring vision and checking for scarring due to inability to fully close eyes at night; monitoring pressure on the eyes (an indication that skull surgery is necessary)
Respirology – sleep studies to determine severity of sleep apnea and to find possible solutions such as using a CPAP machine
Neurology – using yearly MRI scans to check for increased intracranial pressure and enlarged ventricles
Dentistry – dental and possible jaw issues being monitored
Cardiology – apparently, heart issues are common; Marshall’s echocardiogram at 9 months did not indicate any heart problems
Occupational Therapy – monitored and lead the recovery from his syndactyly release (healing from skin grafts to his hands)
Outside of the Hospital
Speech and Language Pathologists – this is key, especially since many of our children are late to hear or speak; look for courses on how to work with your child to develop language skills
Occupational Therapy – home visits to work with Marshall on using his unique and stiff fingers; strengthening his arms and shoulders
Family Therapists and Social Workers – there is no shame in taking to people who can guide you through the powerful emotions that are inevitably a part of raising your child, as well as the effect it can have on siblings
Hearing – there are many options for assistive hearing devices you may need, in addition to devices that will your child’s teachers may need in the classroom
Government Grants – there is help out there depending on where you live; Canada has a few provincial and federal aids available. If you need help filling out an application form, let me know and I’ll try to help.
Schools – As a teacher, I can tell you that some schools may try to give up on your child. Do not let them push you around. Advocate loudly until they can do it for themselves. If you ate having problems with your school board being unsupportive, send me a message with any questions and I will answer them to the best of my ability.
AboutFace – without their emotional support, I’m not certain I personally would have survived the fear of the unknown. Take a look at their website. These are beautiful parents and families who can guide you through the scariest and hardest moments.
Facebook – there are several private groups where news, questions, and tears are shared. Meeting and talking to others who have gone through what our family is going through had been enormously helpful.
The chances of a parent with Apert syndrome passing it on to offspring is 1 in 2. The odds of the mutation occurring spontaneously at conception when neither parent has the syndrome vary depending on the source, but it’s often quoted as somewhere around 1 in 125 000 or more. It’s close to the same odds you have of correctly predicting the result of a coin flip seventeen times in a row. It’s a lot better than your odds of winning the 6/49 Lottery in Ontario (1 in about 17 million) or your chances of me gifting you all of my money (1 in impossible), but it really is a relatively rare genetic mutation.
As a result of this rarity, money put into research of its causes and treatment, as well as the ability for parents to find resources about it, is much more difficult than, say, children with a cleft palate, or Downs syndrome. Ask people on the street, and unless they are a craniofacial specialist, I doubt they would have heard of Apert syndrome.
We’ve been in and out of the hospital constantly since Marshall’s birth for so many appointments, I’m starting to lose track of them. One meeting blends into another, and fortunately Bridget is very organized when it comes to the check-ups, so she is able to correct me when I get confused. I am so fortunate to live not only in Canada, but specifically in Toronto where so many Canadian children with craniofacial differences come to the Hospital for Sick Children for treatment. I don’t know if I would be able to keep my life together if I had to travel farther than the 5 km we have to go, and even so, I’ve joked about selling our home and moving into a condo across the street from the hospital.
On the off chance that someone else has a child with Apert syndrome and is lost as to what specialists they might want to see, here is a list of the professionals we have spoken to at the hospital or elsewhere:
Pediatrician: This seems like a no-brainer, but you might want to find one who is an expert in treating children with developmental delays. A regular family doctor (and we absolutely love ours) may not have seen anyone with this many challenges all in one body.
Plastic Surgery and Neurosurgeons: The cranial surgery performed to separate prematurely fused plates will vary in timing depending on the case, but children with Apert will often need many surgeries to separate the plates, as well as to perform possible mid-face advancement surgeries. In Marshall’s case, I think the plastic surgeon is doing the work, but apparently neurosurgeons might be involved if necessary.
Orthopaedic Surgeons: For the release of fingers, I believe. Many kids with Apert also have issues with feet and toes.
Ophthamologists: The intracranial pressure is monitored to help determine when cranial surgery takes place. Apert children also tend to have visual problems because, among other things, the eye sockets are shallow (hence, the bulging eyes).
Audiologists: Many kids with Apert have some loss of hearing. We are still not sure about Marshall, as he would not fall asleep during our scheduled appointment.
Occupational Therapists: Poor range of movement in the shoulders is very common, and there are frequently delays in walking. Once the surgery on the hands is completed, children with Apert will use their hands differently. Some joints will not be there, and they will have to learn different ways to do such tasks as holding pencils at school.
Respiratory Therapists: Sleep apnea and elevated carbon dioxide levels might be a major cause of intellectual problems. The breathing for some Apert children is so obstructed that tracheotomies are performed early and the tubes are left in for years.
Social Workers: I have said it before, and I will say it again – the social workers at HSC have been invaluable. I don’t know how our first social worker got me through the first few days, and the one presently assigned to Marshall’s care is incredible. He will be lucky to have her to talk to and lean on as a source of guidance and strength.
I’ve probably forgotten other specialists that we have seen, but I’m at the point where one appointment seems to blend into another. If your child is born with Apert or another condition requiring a lot of care, make sure you know what to ask for and advocate for your child to receive those services. And thank goodness I live in Canada.
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?
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.
In 1907, Mary Mallon – better known as Typhoid Mary – was quarantined for the first time, destined to be shunned for the rest of her life for being a carrier of disease. She tried to reintegrate herself into society, but ended up getting more people sick, and finally lived out the last twenty-three years of her life in confinement, on a small island in New York. This story always fascinated me because I find her life to be so romantic and idyllic. Oh, sure, she infected fifty-one people, of whom three died, but she was basically told she had to be alone and couldn’t be around people. I often thought about being a modern day Typhoid Mary, surrounded by shelves of books and stacks of newspapers, maybe a computer with access to Netflix by my bedside. Meals on trays would be brought to me, slid under a cut-out in the door. I once saw a video of a man who spent months in quarantine while recovering from tuberculosis, and I morbidly joked about finding a way to catch it myself.
I feel like I’m in confinement myself today. Over March Break, Quinn had the flu and was inconsolable, so I spent a week’s worth of nights in his bed, helping him blow his nose, singing to him, and soothing him back to sleep while he suffered from fevers and aches. I had the good fortune of having him vomit on me one night. Soon after that, Bridget came down with a similar ailment, and then Marshall had it passed on to him, which landed him in the hospital because he could not get enough oxygen into his little body. Somehow, I felt amazing each day despite sleeping in his hospital room for nine nights straight.
Well, that has all come to an end. It’s as if my body gave out as soon as the hospital visit ended. I’ve been achy and irritable all Easter weekend – more so than usual. After making it through a day of work yesterday, I’m spending today in bed, drinking copious amounts of water, taking Advil and Tylenol, and futilely calling to my two cats, hoping one of those ingrate bastards will keep my company while I feel sorry for my sick self. So far, no luck. I can’t even be around my family, even though Marshall has an important check-up with Dr. Forrest – his plastic surgeon – this morning at the hospital. If he were to get sick again, that would probably mean another stay at the hospital with the oxygen hood over his head and a feeding tube down his throat.
And yet, soon – probably by tonight – I’ll be feeling better and back on my feet. My exile is temporary. I cannot stop myself from thinking about how Marshall will be viewed by his peers. Will he feel welcome?
When I was growing up in Scarborough, there were almost no visible minorities at my school, believe it or not. Now, there are East Asians everywhere in the city, but in the early 1980s, outside of Chinatown, and especially where I grew up, if you weren’t white, you were noticed. Names were called, things were said, and eyes were pulled back mockingly in the schoolyard. But that has changed, and even then, there were places I could go where I would not stand out.
Where is this safe place going to be for Marshall? He is certainly going to look different from his peers. I love to kiss his little face, and I love the way his jowls rest on my shoulder. As he grows, however, he is going to need many surgeries, and his physical appearance will stand out. As I type these words, I can feel the anger rising up inside me as I imagine what I went through thirty years ago, but magnified a thousand-fold. People will stare, people will whisper, and people will dismiss him without giving him a chance to show them what he has to offer.
You don’t need research to tell you that good-looking people tend to be more successful. There have been plenty of studies that have shown a strong correlation between physical attractiveness and hiring. How else to explain how I got my job? (I kid, I kid.)
Right now, all I want to do is protect my little boy and to shield him from the horrors of the world. I’m sorry, but it really is a rough world out there. I see it every day in the school yard, at the grocery store, on the streetcar. It’s rough for the average person; I can’t imagine what it’s like for someone with clear differences.
My heart aches when I think of the times Marshall is going to notice people pointing at him, or when children don’t want to play with him because he’s different. I’m trying so hard not to think far into the future or to be negative. Maybe it’s the flu, maybe it’s the fact I ate an entire blueberry pie (thanks, Joanne), but I’m having a hard time feeling positive this morning.
I know in my first post, I talked about Googling images of Apert syndrome. It’s horrible. The search results are deflating. I know that surgical procedures have evolved a lot, and I have the utmost faith in Marshall’s surgeons that they will not only give him the healthiest life possible, but the best chance of feeling good about himself.
For our part, I know that as a family, we will have to learn to balance protecting him from cruelty, as well as teaching him to be a strong young man who believes in himself. My favourite thing to do with him right now (when I’m not in ague-ridden exile) is to hold him against my shoulder. He rests his large head on my shoulder, pressing a fat jowl to my face. If he is only in a diaper, I can easily kiss the little fold of flesh on his upper arm. I want to keep him as a baby forever, so he never has to grow up and see what the world is really like. I want to hold him like this forever. If I can’t go back in time, I want to freeze the clocks so that it’s just him, his fat cheeks, and my kisses.
On a cold and wet Saturday morning on February 21, 2015, we welcomed Marshall into our family. Our second son, he looked directly into his mother’s eyes as he was put into her arms for the first time. She held him close as he struggled to catch his first breaths.
As I looked at him, I suspected something was not quite as it should be. Labour is traumatic on newborns, but he looked so different from our first son. Something wasn’t quite right. The midwives took him to the nearest bathroom where they had set up a table to clean him up and check him out, and upon returning, they suggested an immediate visit to the hospital. The reason? Most acutely, his breathing was too laboured. Perhaps even more alarmingly? There appeared to be genetic variations from the norm.
This was a complete shock to us. Nothing had shown up on any of our ultrasounds. We had no family history of anything serious.
We were devastated by this news. I followed the midwife upstairs as she called our local hospital in order to prepare them for our arrival. My mind raced as I struggled to deal with this new information. At the hospital, he was placed in an incubator, and the assembled team rushed to his side, checking his vital signs, trying to get him to breath on his own.
I sat down in shock. With our first son, after he was born, we spent the night staring at him in wonder as he slept peacefully. Now, I wondered if we would ever bring him home.
The next day, the doctors made the decision to have Marshall transferred to the Hospital For Sick Children as they realized they needed more expertise to help him cope, both in the immediate sense as well as long-term. By the time I arrived at the Neonatal Intensive Care Unit of Sick Kids, Marshall and his mother had easily beaten me there in the ambulance. It took me a long time before I could muster the strength to walk into his NICU room. Once, many years ago, I had experienced the same feeling when my mother called to me from downstairs, yelling at me to lend a hand because my father had fallen off a high ladder in our backyard and had crawled back into the house in pain. I remember standing at the top of the stairs, too scared to move because I was afraid of what I was going to see, afraid that I wouldn’t be able to deal with it. Now I was faced with the same helpless feeling.
As I approached his little crib, I broke down for what seemed like the hundredth time in the past forty-eight hours. It was so hard to see my little newborn boy with so many tubes attached to him. He looked so scared.
Thank goodness for Canada’s health care system. At least we didn’t have to worry about that. The nurses were incredibly kind and patient despite working in a room full of beeping monitory, five crying babies, and the need to be vigilant and ready at all times to rush to the side of babies with serious health issues. Many times, Marshall’s nurses would pull up a chair and sit by me as I wept uncontrollably at his bedside. They listened to me as I expressed my fears and sadness. They comforted me and did everything in their power to help Marshall feel as comfortable as possible.
A few days into our stay, Dr. Christopher Forrest, head of plastic surgery, paid us a visit. He had a guess as to Marshall’s condition, and listened patiently as questions poured out of us. He had a distinct kindness in his eyes and did his best to allay our immediate fears. Impressively, he was able to articulate my questions for me as I stumbled over the words. He knew exactly what was on my mind. When I told him I just wished someone would tell me everything would be okay, he looked at me and softly said, “Everything is going to be okay.”
It’s five weeks after his birth, and we are back at the hospital for a third prolonged stay. This time, he couldn’t breath after catching the flu, which his brother and mother both caught as well, sparing (so far) the two cats and me. Dr. Forrest’s initial, informal diagnosis has been confirmed – Apert syndrome, a very rare genetic syndrome that affects approximately 1 in 100 000 live births. Statistically, he says that Marshall my be the only child born in Ontario this year with Apert syndrome. Despite its rarity, children from across the country with this condition come to Sick Kids, and Dr. Forrest has treated many of them. This is a small and welcome comfort.
I still cry often, although perhaps less often than before. A social worker here at the hospital explained that what I was going through was normal. I’m grieving. I’m grieving for the loss of certain ideas and dreams I might have had. I’m grieving for the shifting expectations I have for my child. I’m also in a great deal of fear for the future and the pain Marshall will be going through. Cranial surgeries. Facial surgeries. Surgeries on his hands. Possible hearing or vision problems. Possible intellectual disabilities.
This world is not made for people who are different. I’m also scared of what I will feel, say, or do the first time he gets unwelcome stares or is teased for looking different, for acting different, for being different. I have overwhelming feelings of protectiveness and anxiety as friends and family have started to visit Marshall for the first time. Recently, a friend visited with her little daughter. The little girl is absolutely gorgeous and stunning. She will spend the rest of her life hearing this. I wonder if Marshall will hear the same things. I cringe when someone tells me he is cute or beautiful. Even if I think so, are they just pitying us? Do they mean it? I don’t go on Facebook anymore. I don’t like feeling angry or sad when I see photos of everyone else’s perfectly healthy family. I should be happy for them, but those feelings aren’t there right now.
On the rare occasions during the two weeks we have been home with him, when both of our kids are asleep, those quiet times scare me. It is during those quiet times when my mind goes to dark places. It races months, years, and decades into the future, and it’s often the worst-case scenarios that enter my thoughts.
After taking a few weeks off work as Marshall was in the NICU, I returned to my job hoping the distraction would do me some good. During one quiet period as I sat in my room alone, I started Googling Marshall’s syndrome, which only ended up with me in a puddle of tears and struggling to pull myself together. I do not let myself go there anymore. I hold onto the words Dr. Forrest said to me. Everything will be okay.
For the last six days, I have spent my evening and nights in a room with Marshall. There has been little sleep, but don’t feel sorry for me – pity only makes me feel more despair. During those hours in the middle of night, I have spent a lot of time with him in my arms as I soothe him and rock him back to sleep. I lean in close to him and whisper my hopes and dreams for him. I won’t let them all die. Be happy, I tell him. Be a good person, I say. Have a wonderful and healthy life, I whisper to him as the rest of the city sleeps. I love you.