The first two years of Alessio’s life were spent within the four walls of Sainte-Justine. Born in May 2017, he was rushed to the hospital a few days later. Doctors immediately suspected a rare disease. During a conversation with a colleague, one of his specialists heard tell of a gene that had just been discovered and was urged to proceed with genetic testing to confirm which specific disease was the culprit.

By July, Drs. Élie Haddad and Fabien Touzot had their diagnosis: a mutation in the NLRC4 gene, which their colleague of the immunology and rheumatology team had included in the tests as a long shot.

Alessio Seul
2-year-old Alessio

But having a diagnosis wasn’t the end of their worries. Although they were glad to know what they were dealing with, the medical team wasn’t any further ahead in terms of options. Not only was this particular immune disorder extremely rare, but it was also extremely difficult to treat. The genetic abnormality in question meant that Alessio’s body thought it was under permanent attack from a serious infection. The result was a persistent state of “hyper-inflammation.” 

The doctors spent weeks administering immunosuppressants in stronger and stronger doses. Nothing worked. They had reached a therapeutic dead end. But knowing how critical the stakes were, they couldn’t stop there.

Alessio: Little Fighter, Big Army

In the middle of all this turmoil, word had gotten out about an international clinical trial that was underway with a new drug specifically targeting Alessio’s condition. It was a glimmer of hope. But it would take months to get him in, given the administrative procedures involved. They had to find a way to stabilize his condition in the meantime. That’s where research came in. 

Based on his experience with autoinflammatory disorders, Dr. Touzot suggested trying rapamycin, which had proved successful with certain diseases of this type, although it had never been used to stabilize a case of inflammation involving this particular gene. After taking a blood sample from Alessio and testing the drug in vitro, the team was relieved to observe that his cells responded positively to the treatment.

This drug isn’t a definitive cure. But it most likely saved his life.

Dr. Élie Haddad

Physician and researcher specializing in immunology
CHU Sainte-Justine
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A peek inside Dr. Touzot's laboratory

Alessio’s doctors all agree: without the opportunity to conduct personalized research on his cells, they may not have been able to save him. They feel very fortunate to be working at Sainte-Justine and to have the support of a community of donors, without whom such breakthroughs would be next to impossible.

These funds can be invested in leading-edge projects that have tremendous value, but that must prove themselves before they can be supported by public funds.

Dr. Élie Haddad

Physician and researcher specializing in immunology
CHU Sainte-Justine
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Dr. Touzot and Dr. Haddad

Philanthropy and research: A winning combination

There are only a dozen reported cases like Alessio’s across the planet. But rare diseases on the whole aren’t as uncommon as you might think. In Quebec alone, half a million people are affected by a rare disease, and most do not have a treatment. At least, not yet.

Alessio Dr Touzot
Alessio with Dr. Touzot

From a broader perspective, all research done on rare diseases has an impact on the quality of care provided to other children.

Rare diseases have helped us understand some of the key mechanisms in medicine. Inflammation isn’t relegated to these types of conditions. It’s also an issue with cancer and immune disorders, which affect lots of other patients. So when we find a treatment for one disease, it can have a positive effect on others that behave in a similar way.

Dr. Fabien Touzot

Physician and researcher specializing in pediatric immunology and hematology
CHU Sainte-Justine

Philanthropy is the reason Drs. Haddad and Touzot were able to rally a team for a project that would otherwise not have been financially feasible. Donations that are directed toward the areas of greatest need empower staff members to work together to keep pushing the envelope, notably in urgent cases where there’s no time to wait for funds to be freed up.y

The direct link we have between research and patient care at Sainte-Justine is a huge strength. Our research processes are all in place, so we can spring into action when the need is there. It’s an undeniable asset.

Dr. Fabien Touzot

Physician and researcher specializing in pediatric immunology and hematology
CHU Sainte-Justine