After an uneventful pregnancy, Amanda couldn’t have imagined that the beautiful little boy she had just delivered had come into the world with a life-threatening condition.
In the days following Alessio’s birth, he started to lose weight. Too much, even after factoring in that he had been born a bit early. The CLSC postnatal care worker suggested his family return to Sainte-Justine a mere five days after they had left the hospital. The doctors didn’t spot anything at first and sent him home, suggesting they try to get him to drink more and come back in a few days.
A week later, Alessio was inconsolable. Wan and emaciated, he clutched onto his parents with all his might. His parents called an ambulance to take them back to Sainte-Justine.
That’s where they would spend the next two years.
After the first six weeks in the hospital, we weren’t any further ahead. Nobody knew what was wrong with Alessio. We kept seeing other babies admitted to the NICU and then discharged. They found out what they had and let them go home. But we couldn’t go anywhere.
Amanda and her husband Matthew spent the summer of 2017 at Sainte-Justine. Their son was obviously gravely ill, and they had no choice but to accept their new normal: no nights at home, no going out, no picture-perfect family portraits…
Six weeks. That’s the amount of time it took to tell what Alessio was suffering from. An indescribably long wait for a parent, but for the immunology and rheumatology team, it was actually lightning fast. The diagnosis: an autoinflammatory disease linked to a mutation in the NLRC4 gene. A condition with only a dozen reported cases in the world.
In Alessio’s case, the disease was extremely aggressive. A certain amount of inflammation is the autoimmune system’s normal response to stress or infection. But Alessio’s system could not regulate itself. The inflammation was out of control, to the point where it came close to ending his life. Along with that came diarrhea, the result of a hyperactive digestive system.
Dr. Elie Haddad
The only hope to save Alessio was a clinical trial, but the waiting list was extensive and there was no guarantee he’d live long enough to start it…
In the end, Dr. Touzot’s lab is where they found an answer – a temporary one at least – in the form of a drug known as rapamycin. The treatment would keep Alessio stable while they searched for a more permanent solution. Dr. Touzot’s innovative research is made possible in part by your donations.
Even though Alessio’s condition was no longer out of control, he was still at risk. He was confined to his hospital room virtually 24 hours a day. The only time he was allowed out was for a short break in the afternoon when he could go home after his treatment.
Alessio grew from a baby to a toddler in 6-11, complete with injections, feeding tubes and dressing changes. His best friends were the people on staff: the nurses, the orderlies, the cleaning personnel.
His parents’ confidence remained resolute during this two-year period: the clinical trial, where they had pinned all their hopes, was within their grasp. But day-to-day life was challenging to say the least. Alessio was fed through a tube in his nose. He couldn’t swallow anything. Keeping him nourished was an ongoing struggle.
His disease was relentless. Even the smallest fever meant he’d have to stay in his room for days on end. The powerful drugs he was on had a barrage of side effects. And then there was the financial stress, mental strain and physical exhaustion of his parents. “Booboo”: not exactly the word you want to hear coming from the mouth of a two-year-old child.
When I was carrying Alesso, I never imagined that he’d get so sick. His arrival completely upended our lives. During the 26 months he spent in the hospital, we were there by his bedside every single day.
In spite of everything, Alessio proved to be a cheerful, good-natured little boy. Over time, he was allowed out on special occasions: his first Christmas with his family, his second birthday at home.
After months of waiting, Alessio was finally accepted into the clinical trial. The one they hoped would clear up his condition for good. The preliminary results were promising. So much so that, on July 15, 2019, after more than two straight years in the hospital, he was allowed to go home. His well-earned discharge was still tentative, however. He still has to come back for lots of follow-up appointments, and plenty of new challenges await him on the path to a definitive cure.
The reason Alessio’s life could be saved a few weeks after he was born is because there are donors like you out there, supporting Sainte-Justine’s teams when special cases like these present themselves. When an emergency arises. Because the research done by Dr. Touzot and Dr. Haddad found a new drug that stabilized Alessio’s immune system. And because he is undergoing an adapted treatment program right here to turn things around.
Alessio’s family stepped up and faced one ordeal after another, together. Their story has resonated with their extended circle of relatives and friends, all of whom have wanted to do their part. His parents have even decided to raise money to fund research into rare diseases. So far, they’ve brought in $20,000 for this very worthy cause.
The important thing for us right now is to try to move on and move forward. We want to contribute to research into rare diseases and help other children and parents who are going through a similar situation.