Operation Syrup of Maple: Apert Adventures

Life after FGFR2 gene goes mutant 

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Paper Bullets of the Brain

My husband is a regular motorcycle driver. I love it, and I own my own little motorbike as well. I haven’t been on it in 1.5 years, but I am really hoping to be able to get back on it next Summer once our son has gotten a little bigger and things might be such that I can take an afternoon off and take a ride.

In any case, as I am writing this, my husband is fulfilling one of his lifelong dreams: driving off into the, almost literal, sunset on two wheels with nary a care in the World.

In reality, it’s a 3.5-week trip that has been planned down to how many bathroom breaks he gets every hour but, his sole responsibility is following his GPS and getting to his places more or less on time. He had to go alone, as carting a 9-month-old along on such a trip would be heinous, and leaving him behind would be nothing but a guilt trip on one of us.

As he took off, it occurred to me I could do the same. I decided to hop on a plane (two of them, actually) and head south of south of the border and visit my family. I come from a small family, but we are like a sponge and soak up those who strike up a conversation with us and before they now it, they too, have been turned into family. This means that my son now has to stand as grandchild for at least 5 grandparents, is nephew to at least 7 people who share no genetic makeup with him whatsoever, and is about to be passed around a small gathering of 29 people, all in attendance to see and goo and ga over him.

It’s been a very phenomenal experience so far, since one tends to forget how sheltered small communities can be. In our small town, we have published letters (the dubious advantage of being the local news providers) and our friends have organized fundraisers. In general, out of one thousand people living in town, about 950 recognize our son and do not think twice about staring or making a fuss over his physical differences.

The same has been happening with all of his, genetic and adopted, relatives. He is a social, happy and extremely easy going little dude. He eats whatever you put on in front of him, and only turns fussy when is tired and ready for a nap. It’s won him fans, cuddles, toys and the privilege and pleasure of being carted around by anyone he smiles at.

This idyllic reality crashed down around us (mostly me, he is still extremely unaware of how people can perceive him) when we were in the store the other day.

The thing that was most gut wrenching is that it was children, not a grown up, who were pointing the finger and whispering about him to my face (isn’t it always children who can be the cruelest? That’s part of the reason why their responsible adults really need to keep an eye out and teach kindness). There was a girl and a boy, about 7 and 10 respectively I would say. The girl kept using the shopping cart as her personal monkey bars and I really hope she didn’t topple over because that would hurt. The boy was going on and on and on about what a corndog is.

Whomever was their adult (whether it was their mother, aunt or nanny, I have no clue. Their indulging tolerance of her makes me question any of those choices.) was more focused on nagging the deli lady about the kind of ham they had than keeping an eye, or attention, out for her two charges.

The girl stopped her monkeying around and stared at my son (I was carrying him, waiting for my own mother to pick up her order of ham). She looked him up and down and then called over to the boy. I couldn’t quite make out everything she said but I did hear her whisper “Look at the baby that’s so weird!” and she laughed. The boy, whether out of a preteen nonchalance or because he did not share in the girl’s joke, looked over and shrugged and went back to talking about corn dogs.

The girl gave me a furtive look and laughed again, then went back to climbing the cart.

Their grownup didn’t even look up. She sent a half hearted, “Girl, stop it.” (which was thoroughly and very efficiently ignored) and continued to argue about the ham, despite the fact the lady at the deli had already asked her to wait her turn.

It’s funny how long it’s taken to write this, considering the actual event took only a few seconds.

I couldn’t help but hold my son tight to me, as if that would protect him from anything. I glared at the girl and she gave me a defiant look and went back to her business of misbehaving.

I didn’t tell my mother what had just happened. I don’t need to wake her inner dragon as I’m sure she would have slapped both girl and adult but I felt utterly defenseless. I had no idea how to confront a child, or what I could’ve said to keep my son from harm’s way.

He is still only 9 months old, so he doesn’t realize the stares and looks he can get but, I also can’t help but wonder how long that is going to last and whether or not I should be “practicing” the best way to stop, or at least try to redirect, the un-kind that my son will continue to face.

At that moment I felt ridiculously naïve, as if I had been stupid and senseless for thinking I could bring my son out into the wide World and think it would be OK.

By the time we got home I had left the self-pity behind and found it substituted by a quiet sort of rage and battle cry. Why would I NOT be able to bring my son out into the wide World? Why would I, and he, have to stand aside?

My inner dragon is starting to stir. I’m not in favour of letting him out but I feel him getting ready to strike and I don’t think that’s fair either.

In any case: I’m conflicted.

At least for now: we have retreated into the safe space of family and friends.

I have this to get me through the next three weeks: my son will face the pointing finger of shame many times in his life but at least, we know we have plenty of safe, loving and kind spaces. The wide World is an awfully big place but, what I would like my son to learn, is that if he keeps on smiling and charming people, he will drag the kindness out of anyone and everyone he meets. I don’t want him to keep an inner dragon of rage, rather, I would like him to breed his own inner dragon of strength.

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Wibbly Wobbly, Timey Whimey…Stuff

There’s a lot of things that scare me.

The Boogey Man.

Sharks.

Ghosts.

The sense that I will never be good enough.

Debt.

Credit cards.

That clown from “It”.

The dark.

The list is much longer than that and while some are legitimate fears, I am not so proud to admit that many of them are irrational and childish. Oh well, not much I can do about that now…

What I can proudly boast is that while there are many things that scare me, not many things faze and shock me. This, as I have quickly learned, is generally a good thing as I am the mother of a child who leaves people wondering (at the best of times) and flat out staring and gawking (at the worst of times).

I have to admit, up until recently, his cuteness (not bragging, just a fact) more than made up for the fact that he does not look like a normal child. This, I think, has helped all of us cope with his condition a little better because we already worry about so many other things on a day to day basis, there really is no room to be worrying about pointing fingers and rude stares.

Well, my little bubble of protection had begun to look a little worse for wear recently and it was on a routine trip to the local store in town that it popped into oblivion.

I walked in and the owner was excited to see me and my child. We were standing by the door, chatting about how well he looks and how his hands (now that he’s had his fingers released-I like to think like a mighty Kraken-there was much ado about his new fingers) look good and how they are going to work now and what I hope to see in the future for progress and physio, etc, etc. This is a conversation I have had many times, with many different people, but there is always a certain joy and tongue-in-cheek when I’m discussing my child’s differences with friends and people I care about. This particular individual, is someone I am fond of and thing very highly of, so I was excited and she was excited and my kid was bouncing in his carrier, all smiles and babbling.

It was a picturesque moment, until I felt…something.

It was like a bit of a shade, like someone turning off a light when you are not ready yet.

There was a man standing next to the door, clearly listening in. I looked toward him, all ready to keep the conversation going (I’m a big supporter of asking and answering questions, so I try to face strangers and encourage them to come close; my child will have to live with the stares and looks all his life so he might as well see that you can control the situation if you are open and honest and willing to talk) but I quickly found myself silent.

For the first time ever, I experienced what I knew would come: pity behind the stare.

The man didn’t know what to say, neither did I.

There was an awkward silence and then he said it, “He’s really been through the ringer, huh? Does he have much more to go before he gets back to normal?”

I’m not sure if it’s a survival instinct, but something in me kicked in at that moment. I laughed.

My kid, I explained, doesn’t know any better! He’ll be fine no matter what else is done, or not!

The stranger looked at me and gave me a half smile, said something like, “Atta girl!” and left the store.

The truth is I’ve been thinking about that man for a number of days.

Yes, my child looks different.

Yes, it freaks people out.

No, he does not need pity.

No, he does not need to “get back to normal”.

My bubble world was sent for quite the spin before popping.

My child is no longer safe from the pity, the stares, the awkward comments. He is no longer simply “such a cute kid!”.

I knew this day would come, I knew I would have to fight these battles.

I’m not ready for it. I’m not sure if I ever will be but I do know this: I can’t let my child see that uncertainty. I can’t shield him from his reality, but I can make sure I face people head on, I look them in the eye and, without anger, or fear, or hesitation, I keep on living life.

The first one was hard, and I’m not sure I’ll ever feel any better about it, but I hope that, just like with changing very dirty diapers, one gets in enough practice to be efficient, quick, and leave a clean and happy child behind.

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Now Mother, what’s the matter?

25 days. That is how long I have been out of my home after my son’s first mayor surgeries (you read that right: two at the same time. It certainly saves him and the surgeon from having to be put through a second round of anesthesia).

My son was born with a fused skull. The solution is an extremely interesting surgery that is something dreamed up during the middle ages in a deep and dark torture chamber: the head is basically scalped, the skull cut, screws attached and once everything is stitched back up, you need to turn the screws via some unbelievably cute antenna for as many days as necessary to open up the space between the cracked bone and create a soft spot (and a much more “normal” head shape).

The technical term for this ailment is craniosynostosis. The surgery is called Cranial Vault Reconstruction.

My son also has webbed and fused fingers and toes. The skin between some fingers was cut, grafts taken from his upper leg and new fingers were shaped by the surgeon. He has 4 fingers in one hand and 3 in the other.

The technical term for this ailment is syndactyly. The surgery is called Syndactyly release.

Almost one month later we still are not home (the hospital is an hour away from home, which is far enough to keep us in the city in case anything happens and for follow up appointments).

Today was our third check up and the day the antenna on my little ant-babies head were popped off (his head is very nice and round). The expectation was to go home tomorrow.

Life always has a funny way of changing plans.

The grafts on one of the hands did not take. There was bleeding (not enough to be of concern, but enough to raise eyebrows) and bandages had to go back on the hands and the surgeon gave strict instructions that no one but himself is to take those bandages off.

This is part of the Apert adventure. It’s part of what we’ve learned to be prepared for as we move forward down this path.

It’s hard and yet, we will carry one and move forward.

The thought of new fingers sustains me, as does the fact that my son’s brain now has all the space it should need to develop normally.

So here is one more lesson for me: my son is happy, my son is back to being in stable condition and a little blood, sweat and tears will make his hands all the more special!

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Oh, the places you will go!

It had been a long and exhausting weekend. We had driven down to emerg and had spent hours calmly waiting for the neurologist on call to come and see our guy. He had been throwing up, sleeping a lot more than is normal, randomly screamed in pain and his soft spot was bulging. We had walked into hospital hesitating, after all, is a couple of episodes of vomiting really worth the 89km trip to hospital to take up the spot of someone who might actually require critical and emergent care? The answer turned out to be yes, yes it does.

For those unaware of this, Apert Syndrome comes with a wonderful vocabulary building feature and one of the most awesome new words is: craniosynostosis. In layman’s terms: the premature fusion of the skull. To really dumb it down: kids have small, less or no soft spots at birth. It’s a fun medical ailment as it can lead down the road of head and face deformities, brain development problems and cognitive issues all ranging from non existent to severe. Our son has a large, if not completely soft, soft spot and had been doing extremely well up until a month before our first visit to emerg.

His pediatrician suspected elevated intracranial (another fun vocab builder!) pressure, as did the ophthalmologist, physical therapist, occupational therapist, speech and language pathologist and nursing staff.

We had all been holding our figurative breaths while very literally calling the neuro-surgical team every day to provide updates and exert pressure to get a date for CVR.

That’s Cranial Vault Reconstruction surgery.

It sounds like a fancy crossover, safely taking turns while keeping little ones entertained and magically storing all the groceries…It’s not actually that pretty.

In any case, the calls had been for naught, but we hoped that the visit to emerg would at least result in further tests being done and a definitive answer being given to the only question that mattered at that moment: what is wrong with our son now?

It was only 4 hours before we were visited by the neurologist on call. He knew our son. He had seen him in NICU and remembered him well. He looked at him, determined he was not sick, and ordered an MRI.

Another 2 hours went by and we received the results: things were still OK, but we did need to call the neurosurgeon and request a consultation ASAP. (I do not love how they keep telling us “everything is great! But rush to see the doctor right away.”) After that, we got discharged and sent home.

We got home and collapsed in cribs and beds and slept the kind of sleep that only 3 exhausted human beings could: quickly and deeply.

Monday morning dawned, not literally cause that happens at 4 am this time of the year, but it figuratively dawned for our house and we got up and got going with the business of life. Our son had had a good Sunday (just threw up a couple of times!) and off we went to work. I called the surgeon and finally was able to speak to someone after the second try.

We had a date for surgery.

One week.

One week is what we were given to prepare.

One week is how we have been measuring time.

One week is almost up at the time I am writing this.

My nerves are still (properly shoved into the very back of the last closet in my mind, ready to spring out the morning of the surgery), my bags are packed, my child had one more visit to emerg but has taken a turn for the better the last two days and is happy and eating normally.

The countdown is real, it’s scary, and in two days time our count down will become a count-up as we move into surgery #1.

As a parent of a child with Apert, you spend a great deal of time advocating for why your child should have surgery. It’s a perversion of what most parents usually do with their time and trust me, it feels very profoundly and deeply. All I can do is take a long deep breath: its necessary and quality of life will improve after this.

Just one more sleep to leave home.

Just two more sleeps to go to hospital.

Just two more days and my boy will be out of danger for ICP and hydrocephalus, he will also have more fingers.

It’s time to get on with it.  

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Are You My Mommy?

I was recently sitting on my back deck enjoying the outside for the first time in the year (for clarification, it was already mid-May. The weather is just brutal up in the Desolate Great White North.) when a friend asked a question that, as much as I hate the cliché, did send shivers down my spine.

The question was intrusive and invasive and out of all the questions I have been asked it’s the one that has stumped me and there was really no clear answer.

“So, other than the medical “things”, are you enjoying motherhood?”

My thoughts were going too fast for me to process but upon weeks of reflection I think that I can be fairly sure they could be narrowed down to:

1.      Who actually enjoys motherhood? (there’s a lot of snot and poop involved and really who looks forward to that?)

2.      How can I separate the complex medical needs of my child with Apert’s with the complex infant needs of my child with Apert’s?

3.      Is there any part of me, as a mother, that is not fused to the core with Apert Syndrome?

The answers, I suppose, are: OMFG that’s a lot of snot and poop!, you can’t, there is not.

So, I concluded that, to me anyways, there is no such thing as “other than the medical things”. The truth is, my child is the medical things: the cleft, the aspirations, the apnea, the webbing, the physiotherapy, the list of specialists that extends to double digits (DOUBLE DIGITS!), the calls to surgeons and the nagging of nurses. He is also his laugh, the way he bounces and shakes when he watches me walk into the kitchen, how he will shake his head until he laughs so hard he topples over, his drooling and biting, his rolling over and his love of his light up toys…so if my child cannot be separated from his medical needs, can my experience of motherhood be “cloven in twain” (as it were)?

Again, the answer seems to be: nope.

Now for the tricky part: can I say that I “enjoy” motherhood?

I think that’s a complex issue at the best of times, let alone when you throw in a bag of Apert’s.

It’s taken me weeks to be able to come close to putting my feelings on the subject into words and this is my best answer: it’s complex, contradictory, infuriating, frightening, frustrating, energizing, hopeful, downtrodden and confusing.

It’s me crying in the shower as hard as I can but still stepping out 20 minutes later and being ready to roll, play and laugh with my boy.

It’s also becoming genuinely interested in the pediatrician’s life, or the SLP’s weekend while still trying to remember that they need to answer to me and keeping them in line about treatments.

It’s lying awake at night counting seconds until the breathing comes back and then brazenly declaring that is way better than spending another night sleeping on the floor after another sleep study.

It’s watching pea puree being sneezed out and landing on my computer as I’m trying to write or simply having files open and wondering how I could be so ditzy as to leave an open screen within reach of the sneeze.

It’s being proud of the fact that my boy can pick up a pipe cleaner and being frustrated when he drops the ball he insists on wanting to take with him (which he cannot hold on to).

It’s spending weeks with my hamster wheel spinning as hard as it’ll go after being asked: do you like this?

There is a simple answer: no, I do not enjoy this. I don’t dream fondly of the next trip to hospital, or the next stay at RMHC (despite their baking being the most amazing baking ever!) but it’s my life and as the months have rolled by, I also no longer dread them.

People around town always stop us and gush over how well we look “despite all you do” and both my husband and I have to admit we look a heck of a lot more put together than many parents of healthy and genetically sound children. Maybe Apert’s has made us extra organized? Maybe it’s turned us into quiet optimists?

Or maybe, the giant slap in the face that was our boy being born like he was keeps us grounded and we have no choice: it’s either best foot forward or it’ll all come crashing down and bury us.

If I were to be asked the question again, I might have a better answer: I can’t say I enjoy motherhood all the time, but I loose no sleep over it and the “medical things” have just made our lives that much more colorful and, hopefully, one day our little boy will grow up and see that life can be lived, no matter what it throws at you.

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Fool of a Took!

I’d like to start off by clarifying that I do appreciate my mother in law. She’s a kind, noble, loyal and intelligent human being who is always ready to lend a hand.

That being said…she’s also in her eighties, staunchly stuck in her belief that men are inherently better than women and that mothers need to quit their living of life in order to serve as semi-slaves to their children (especially if they are male). She also has a whole herd of Catholic guilt to throw around.

I, on the other hand, was raised to fight for what I believe in, work hard, read harder and never bow down to anyone. I was raised on the belief that answering questions and setting limits for children is the best policy and it is one I believe in wholeheartedly now that I am a mother myself.

My son is six months old, so limits are just beginning to appear on the horizon but we have set down strict routines for eating and particularly sleeping. We also have had to encourage independence and self soothing because the complex medical needs of any child with Apert Syndrome mean they will spend a lot of time in hospital and in doctor’s offices, so patience and being used to playing with just one or two toys for a while is critical to surviving the next few years of our quest.

And this is where my troubles with my mother in law begin: I am a rational, practical mother who does not want to use a stroller because I can child-carry and it’s not a burden for me; she is dead set on using baby words and that lying to a child to cajole them into behaving is a good parenting strategy; I believe my special needs child needs to be resilient, engaged and be comfortable in his own skin in order to survive, she believes he needs protecting and never being told he is different; I believe that no matter how much it hurts me to see him in hospital and to put him through surgeries I have to be there to support and help him heal, she believes in praying the Apert away and that maybe one day the Virgin Mary will seal his cleft palate.

She also doesn’t want to be involved with the doctors or the hospitals.

This last bit, more than anything, is what I feel has been the Great Divide between us. I understand hospitals are uncomfortable, and no one wants to see a loved one suffer but, when my son was born and we didn’t know if he was going to survive, she refused to see him because she didn’t ever want to see her “perfect boy” hooked up to tubes. It’s a sentiment shared by my own father, and he dug deep, had a cry in the parkade, and spent three weeks in the most uncomfortable office chairs in NICU imaginable, he held his hand, stroked his hair, fed him, bathed him and changed his diaper. It breaks my heart that my mother in law will only appear when my son is out of hospital and otherwise healthy. Right now, he is six months old and loves the attention but when he is 3, 4, 5, 10, 12 and requires medical procedures and hospital stays, will he still think it’s enough to get the love from the only grandmother that lives in the same country only once he’s mended-up?

I know it might seem an exaggeration but, I do worry about that. Weeks turn into months and into years really fast and what starts as a quirk becomes a habit and then a characteristic. Do I want my son to grow up in a world where one of his closest family members cannot stand to see him through his times of medical need? Do I also want him to grow up with the contradiction that he is perfect and superior, but his grandmother cannot stand the sight of him with tubes or medical machines or apparatus?

I also wonder who is really playing the part of the fool. Is it me for not showing more patience or trying to see the world from her perspective? Is it her for failing to adapt and survive?

I, generally, have many things to worry about on a day to day basis but I cannot deny that when I leave my boy with my mother in law, I do wonder.

I care about my mother in law. I want her to be an active part of my son’s life and I want her to be a positive force in making Apert Syndrome a friend we are all comfortable with.

I also don’t want to spend time and energy worrying about my mother in law and I do want to spend time and energy allowing her to coddle, spoil and teach my son valuable lessons (like sewing or caring for a garden or just telling him stories about her family and showing old, old pictures).

Most important of all: my son needs us to be a unified front. He needs us to stand with him in hospital, in school, when people point a finger or look away because he looks different, when he wants to try something new and we might need to adapt the activity or the equipment.

Basically, he needs us.

I would really like to be able to provide him with that (minus the Catholic guilt and misogyny; no one needs that).

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Silence Fell

My son’s birth was an event worthy of an epic tale: there were 36 hours between when the induction started and when he was finally pulled out of me in an emergency c-section. He was 12 glorious days past his due date (He enjoyed the extra stay. Me? Not so much)

My husband was in the room and he was narrating what was going on (“Holy! You really should not be seeing what they’re doing to you now! I didn’t know skin could stretch like that! Did you feel it?”). It was a few minutes and someone said “Here comes baby” and then…

Silence.

No crying, no comments.

My son was rushed to the back of the room where he was resuscitated.

Hours folded into seconds and stretched into days and finally there was a weak and nasal wail.

The wail stopped.

The wail started up again.

A nurse asked, “Does Dad want to come meet his son?”

My husband said, “Sure”

My husband came back about a minute later and his words were calculated and weighed a ton each:

There’s something really wrong with him. He is deformed in every way you can imagine: his head, his face, his hands, his feet, he has no nose, his mouth is wrong, his eyes are wrong…all of him is deformed.

A nurse rushed and asked if I wanted to see him. He was placed on my shoulder and my husband pulled out his hands and showed me.

My son had all his fingers fused and his thumb sat at a sharp angle, locked inside his palm.

The nurse took my son and rushed to the NICU. I told my husband to follow them and to not let my mother see me.

Six months later, our son is thriving and growing like a weed but we’ve joined the many families that do more and have more: special needs. Within a few hours of his birth the geneticist was confident his condition is something called Apert Syndrome. It’s a genetic defect which can result in: heart murmurs, lung defects, trachea defects, gastro-intestinal malfunctions, low muscle tone, blindness, deafness, missing brain function or structures. The characteristics are: craniosynostosis (fusion of the skull in part or on the whole), sunken mid face, cleft palate, fused fingers and toes and shallow eye sockets.

We were, as it turns out, very lucky: our son has only exhibited the characteristics and none of the more fun aspects, such as heart and lung issues, etc. His brain is all there and the structures developed normally so they can have some confidence that he might not have a serious learning disability and they are sure that he will be able to hold down a job and be an independent adult when the time comes.

The rest, however, is all there and so is all the work you might expect. His cleft palate means he needed a feeding tube and even after that got chucked out, he has special requirements for eating and feeding. His fingers never developed joints so he doesn’t really have any fingers under the fused skin, it’s more like chopsticks melted together at the tips (fun times cutting those nails). He is strong but has an entire physiotherapy team of 4 working very hard with him on a bi weekly basis to make sure he is able to sit, roll, crawl and eventually walk, run and jump in a timeframe that is not too far behind other children his age.

His eyes do not close when he sleeps and he needs special eyedrops to keep the eyeball lubricated.

His skull is partially fused and he needs cranial vault surgery and distractors put in.

This is the start of the Apert Journey. As  I have found out through my support group on social media, these children are Apert Warriors and no wonder: even a child like my son, who is extremely healthy and lacking in a lot of defects, is facing at least 3-4 surgeries just in his first year of life; his father and I must choose to break his bones and crack his skull so that his surgeons can go in there and try to give him the body parts that he is missing.

Apert Syndrome is extremely rare and can present in children who have no history of the defect in their families. I did all the testing, all the scans and no one caught it.

I am not alone, many families find out about Apert only after their child is born and lying in a NICU crib looking like an almost-newborn.

It’s an intimidating thing to go through, and our little warrior has impacted all of my family and my husband’s family. It’s hard not to when you enter the world with a condition such as Apert’s.

And this was the start of our story: silence.

The silence of a baby not crying.

The silence of a shocked medical team as they tallied up the deformities.

The silence of a mother and father who have no idea how to tell the expectant grandparents, aunts and uncles that something is horribly wrong.

The silence of the NICU that swallows the beeping of all the machines.

The silence as we open medical notices in the mail at least once a week.

The silence of children who realize my son looks different.

The silence parents and caregivers want to impose on children if they start to ask questions.

Silence fell and it swallowed us whole but as months have passed, we’ve made a home in the silence. There’s comfy little spaces and a certain calm in going through the motions of physiotherapy. There’s a comfort in spending hours in hospital as the rooms become so familiar and so like home.

Above all, there is a quiet defiance. Silence fell when my son was born, but we will rise above it and one day we will swallow the silence whole.