They Said She Wouldn't Live Past A Few Months

Alexia spent close to 4 of her first 12 months in a hospital bed. A neurologist told us, in a room with the staff pediatrician, the geneticist, the ENT team, and a dozen medical students seated around the table, that she would not live past a few months. That was the spring of 2018. She is 8 now. She takes the bus and goes to school, she's been eating and drinking normally since shortly after her third birthday and we removed the G-tube in March of 2021, she loves swimming and she screams of joy when I push the swing too hard. I am writing this down because the people who were most certain about my daughter were the most wrong.

We found out my wife was pregnant in June 2017. At the 6-month scan they found a two-vessel cord, a single umbilical artery where there should have been two. That sends you for a closer look. The doctor saw that the corpus callosum measured shorter than it should but it was growing. He would not commit to what it meant. He offered us a termination at 6 months and left us with that. Every standard genetic test came back negative. We asked for a second opinion at a different Toronto hospital. Their team ran the echo and told us Alexia was exactly where she needed to be, just a little petite.

My wife developed cholestasis late in the pregnancy, which meant closer monitoring. On February 24, 3 weeks before the due date, a check-up could not find Alexia's heartbeat, so they induced. She was born at Sunnybrook hospital. Very petite, otherwise fine. We moved from the delivery room to the ward. Later that morning a nurse tried to get her to latch and she turned grey. She could not eat and she could not breathe. They took her away to stabilize her. In the NICU they found a cleft palate, laryngomalacia, and an intestinal malrotation.

My wife and I waited in the corridor while they worked on her. She was still in her hospital gown, the IV still in her arm. A group of expecting parents came through on a tour of the maternity ward. We had been booked on that tour, that same day, that same hour. We stood and watched the group we were supposed to be in walk past. The first time I walked into the NICU and saw her in the incubator, I stopped being anything other than her father.

A couple of days later Alexia was transferred to SickKids Hospital. They ran exome sequencing fast. In Canada, they generally run it fast to catch the diagnoses like trisomy 18, the ones where the system has already decided how hard it is going to try. OHIP approved the test and the DNA was shipped to a lab in the United States. The geneticist gave us the result on March 28: Coffin-Siris syndrome, de novo, a SMARCA4 mutation. Rare enough that most of the people in her care would only ever read about it.

The first thing I learned in that hospital was that no one owns your child's case. On day one a staff pediatrician laid out his plan. He would bring in ENT because they add value. He would keep Neurology out because in his experience they never did. The next day he was gone. He worked at another hospital and rotated through this one. Some come two days a week, some one day a month, some for a week and then you never see them again. There was a handoff each time. Each time it was someone completely new, with a different read on her case, a different level of empathy, a different amount of experience. Some were excellent. Some were not. You are the only continuity your child has.

We joined the Coffin-Siris syndrome Facebook group the week we got the diagnosis. I posted about Alexia's breathing. Within hours other parents told me their kids had gone through the same thing and had been offered a supraglottoplasty. Laryngomalacia is soft tissue above the vocal cords that collapses into the airway every time the child breathes in, so the airway keeps closing on itself. A supraglottoplasty trims and tightens that tissue to hold it open. I researched it. It fit what I was watching Alexia fight through every hour. Parents on Facebook understood my daughter's airway before the hospital did.

She was discharged on April 16, 2018, almost two months after she was born, with a G-tube placed during the same surgery that corrected her bowel malrotation. Accepting the G-tube was the condition of taking her home. She was not eating. A week later she was back, this time in the PICU, because she could not manage her own secretions with an airway that narrow. She could not lie on her back without desaturating and turning grey. She lived on her stomach. I spent those nights lifting her to find the one position where she could breathe and feel somewhat comfortable. I also spent them saying no. Staff would come at 3 a.m. to draw blood or push for an X-ray that could wait for daylight. I refused the ones that could wait. The next day I was reminded, clearly, that I was a nobody next to these doctors, and that the care my daughter needed might not continue if I kept refusing. I have several stories like that one. This is the tame one.

ENT had scoped her airway with a rigid bronchoscope and found the laryngomalacia and nothing else. She met the criteria for a supraglottoplasty. They told us there was nothing they could do for her. So I read the research myself. One recent paper was by a respirologist at the same hospital. I emailed her directly from room 80-4, apologized for the approach, and copied Alexia's care team. She was away that week, so I sent the same request to a second respirologist. He answered in 2 hours: "Happy to come by and take a look!"

A staff pediatrician, a woman in her late fifties, had taken over Alexia's case that same week. She was copied on all of it. She could not accept that we questioned her, or that we advocated for our own child. She ordered a brain MRI, brought in the same Neurology the first pediatrician had said added nothing, and called the family meeting for April 24, the day after those emails. The geneticist was in the room and looked uncomfortable. You could see she did not agree with the neurologist, and she said nothing. The neurologist said she had seen brains like Alexia's before, and that Alexia would never live past a few months, maybe years but certainly not decades. I asked her for the odds. She said, and I remember it exactly:

After the meeting, the neurologist's supervisor came by. He agreed with her, without examining Alexia himself. The respirologist never came. The meeting took care of that. I did not accept the verdict. Any parent who is paying attention can feel whether their child is dying, and Alexia was not dying. I said so out loud, and the next morning I put it in writing: that neurologist was to stay away from Alexia and never be involved in her care again. Her intervention had added zero value, and so had the presence of 80 percent of the room. I never threatened anyone. I remember wondering how many other children she had done this to, with no consequences.

The hospital has a procedure for parents who push back. They called me into a room and told me I was being escorted off the property, and that I could come back the next day if I checked in with security. A guard walked me down to the underground parking garage. He knew I was no threat, and so did they.

Alexia, meanwhile, was stabilizing. The day after the meeting they moved her out of the PICU and back up to the ward. She was doing well enough that they started choosing a date to send her home. Home as a palliative patient.

She was improving and being scheduled to die at the same time.

I was in and out of the building all day, for food and air, while my wife pumped every drop of milk she could for Alexia. One of those times I walked back onto the ward without stopping at security, because there was no one at the desk. The staff pediatrician saw me come in unescorted. She said nothing. Just looked at me. Fifteen minutes later she had me banned from the hospital for 24 hours, for not checking in with security a third time in one day. It forced me to leave my wife and Alexia alone overnight.

We took Alexia home under the palliative label. The system sent a nurse to the house every day to manage it. The nurse examined her once, looked at me, and said:

The person the system assigned to manage my daughter's death told me the death was not coming. She was right.

The word followed her home anyway. Palliative goes on the front of the chart, and every new clinician reads the chart before they meet the child. It changes what they are willing to do. No surgeon books an elective operation on a dying patient, so the cleft palate repair she needed was put off. The palliative services, meanwhile, worked. A doctor came to the house, very calm, and offered medication to keep her comfortable at home. We were offered music therapy. A photo shoot, too. Everything except the airway surgery she met the criteria for.

The label reaches the parents too. That June, for my first Father's Day, the hospital gave my wife a gift to pass on to me: a small recorder to capture Alexia's heartbeat. A recording of a heartbeat is what you keep for after the heartbeat stops. It was a mourning gift, for a child who was alive and getting stronger. You can know the experts are wrong with 99 percent of yourself. The other 1 percent absorbs things like that, and it pulls you toward comfort and keepsakes when your child needs the push.

My wife caught it before I did. After Alexia started eating, she had the word taken off the front of the chart.

Alexia fought, and it was obvious to anyone who actually watched her. The team had said her airway was floppy from low muscle tone and not from anything structural. She still has the stridor today, years later, which means that read was wrong too. She never got the supraglottoplasty. Because she never got it, she spent close to 4 months in hospital in her first year. Eventually we managed to get her into the complex care program. It helped, a bit.

Alexia is 8. She is non-verbal, and she understands far more than she lets us believe. She will probably never manage her own money or live alone. My wife points out she knows plenty of typical 40-year-olds who do neither. She loves the water. She rides on the back of the motorcycle with me and smiles at the wind. She wants the swing pushed harder than is reasonable. There was a night in the PICU, a BiPAP covering her whole face and a little sedative in her, when I watched her look calm for the first time. I think about that face when people tell me the system will take care of her.

Here is what that spring taught me, and it is why this newsletter exists. The people with the most authority over my daughter were certain, and they were wrong, when she was 2 months old. I am not going to hand them the next 30 years. She is not going to inherit money. There is no benefactor waiting. The only thing that buys her freedom and her protection is income and assets I build myself, structured to outlast my job, my address, and eventually me. That is the plan. There is no other one.

There is a second thing that spring did, and I am only honest about it now. Alexia saved me. Before her I was on track for a life in a cubicle, not trying for anything exceptional, not seeing the opportunities sitting in front of me, sure that certain things were not possible for someone like me. A child who needs a 30-year plan does not leave room for that. She took the small, scripted life off the table. The 9 to 5 works for most people, and it stops no one from doing something exceptional. It never worked for me. I was never happy inside the system, and starting a business is not for everyone either. I think a kid like this can hand a parent an unfair advantage, if the parent is willing to use it. I intend to use it. So this is also for me. I am building to protect her after I am gone, and I am building to get myself out of the mundane, the script, the 9 to 5, the mediocrity I would otherwise have settled for. Time will tell if I pull it off. It is all on me.

If you do one thing this week, write down what happens to your child's care on the day your income stops, not the day you die. Those are usually not the same day, and the first one tends to come first. If the honest answer depends on the same system that was this certain and this wrong about my daughter, then you and I have the same problem, and about the same amount of time to fix it.

The illustration above this paragraph (only visible on web) is a design I made for Alexia. It is called A Score. A print of it hangs in our home, and sooner or later everyone who visits asks what it is. This is what I tell them.

Every cell in her body carries the same sheet music as yours. Lines and lines of normal notes. SMARCA4 is the conductor. It is part of the machinery that decides which notes get played and which stay silent, which genes get read and which never do. Alexia's conductor carries a single change. Not inherited. Not caused by anything anyone did. It happened once, before she was born, and no one can say why. So her orchestra plays under a conductor who gets it wrong in both directions. The air struggles to get in when it should. The reflux comes up when it should stay down. The words stay behind a gate she has never been able to open, in a mind that understands far more than it can say.

Then I tell them what the design is actually about. The music that plays anyway. The unimaginable strength of a baby who fought for every breath of her first year, who lived flat on her stomach because her own airway kept closing on her, and who came out of it loving water, wind, and speed. The resilience of a kid written off with 100% certainty by a room full of experts before she was 2 months old, who takes the bus to school now. People use those two words for athletes and quarterly earnings. I watched a baby who could not breathe on her back give them their real meaning, and I have not been able to use them lightly since.

That is what hangs on our wall. A score her conductor keeps trying to silence, and eight years of her playing it anyway. Gatekeepers, genetic and human, deciding what would never get through. She comes through anyway.

Antoine