Doctors had to “throw away the textbooks” to treat Jacob’s unique condition

When Nicole Boucher was pregnant, doctors spotted something unusual during her 20-week scan — cysts were forming at the back of her baby’s brain. She was closely monitored at Mount Sinai Hospital until she gave birth there in September 2016. As soon as Jacob was born, he had trouble breathing and was whisked to The Hospital for Sick Children (SickKids) through the underground tunnel network.

That night, when Nicole recovered enough to be wheeled out of the hospital, she went to the SickKids neonatal intensive care unit (NICU) to meet her son. There, she saw her newborn boy hooked up to machines — a terrifying sight. “I was scared to even touch him, and I remember the nurse saying, ‘You can touch him, he’s okay.’ She talked to me about my baby, but not about everything else going on.”

It would be the start of a long, special relationship between Jacob and his medical team. That same nurse promised Nicole she would look after Jacob each night when Nicole had to go home because there was no space to properly sleep in the NICU. The 41-bed NICU is one of the busiest in the country and provides care to more than 800 critically ill babies a year. Privacy and space are always a challenge. But Nicole knew she was leaving Jacob in the hands of people who felt like family.

“One nurse made this huge connection with Jacob. He adored her. I remember walking in one morning at 6 a.m. and she was bathing him. The things she was doing were the things a mom would do. She was his mom when I couldn’t be there,” says Nicole.

After four weeks of monitoring, Jacob was cleared to go home, though a diagnosis was still elusive. A few weeks later, he stopped breathing and had to be rushed back to SickKids.

So began an ongoing journey of repeated hospitalizations, resuscitations, and lots of uncertainty. Jacob didn’t fit any diagnostic criteria; all the doctors could do was treat his symptoms — mainly his difficulty breathing. They determined that he had tracheomalacia, a condition in which the cartilage in the windpipe doesn’t develop properly, causing it to collapse on itself.

That first year, Jacob had three major surgeries to open his airways. But the underlying cause of his varied symptoms was still a mystery. He underwent genetic testing, which found a variant in a single part of a single gene. It turned out that only seven kids in the world had a variant within that gene, but none of them had the exact same variant, nor symptoms, as Jacob.

He is also immunocompromised and has plastic bronchitis, a lymphatic flow disorder that can cause severe breathing problems. What’s more, he was diagnosed with protein-losing enteropathy, a condition in which excess loss of proteins occurs through the gastrointestinal tract, which is affecting his growth.

“We usually say, ‘Okay, what's the worst-case scenario?’” says Nicole. “We have to prepare for that because if it's going to happen to anybody, it’s going to happen to Jacob.”

Jacob is now six years old and just started school at Bloorview School Authority. Though he’s non-verbal, he’s definitely a communicator, says Nicole. He’s learning sign language, but he connects best through music. He brings his keyboard with him every time he goes to the hospital, and some of the nurses even learned to play his favourite songs because they know how much it means to him. “Even if he had just had major surgery, and two chest tubes and should be in so much pain,” says Nicole, “he would be sitting up wanting to play and listen to music.”

Through some of those most challenging and stressful moments of their lives, the SickKids staff has been there for Nicole and her husband Hratch. And their focus is always on treating Jacob in a way that is as unique as he is.

“His doctor always says to everyone, ‘Throw out that medical file for a minute. You’re not allowed to say anything or suggest anything until you meet Jacob,’” says Nicole. “His medical file doesn’t define him.”

Torstar, the Star’s parent company, is in a fundraising and educational partnership with The Hospital for Sick Children to help raise $1.5 billion for new facilities. This content was produced by SickKids as part of that partnership.