A Normal Life for a Rare Case of ‘Baby Bubble’

A Gatineau baby, born without an immune system and for whom a simple cold could have been fatal, was treated quickly thanks to a test developed at CHU Sainte-Justine, which made it possible to find the appropriate treatment for his rare condition.

“He went well […] We are extremely optimistic. My sincere belief is that he will lead a normal life,” says child immunologist Élie Haddad, clinician and researcher at CHU Sainte-Justine.

Little Tommy Leguerrier, now 2 years old, is one of the rare babies born with no natural defenses due to a failure in his immune system. Babies like him used to be placed in plastic blisters to isolate them from all germs, hence the nickname “baby blisters”.

“I couldn’t breastfeed her anymore because we transmit viruses through breast milk. It was a big shock. […] If you beak your baby, you can kill them. I didn’t even know if I could breathe his way,” said Marie-Andrée Filion, 36, who agreed to testify as part of Rare Disease Day.

But even rarer, Tommy is one of the 5 to 10% of those baby blisters that don’t have any abnormalities at the gene level, so until recently no test was allowed to know how to treat them.

“We are in the rare square,” comments Dr. Haddad, who estimates the number of cases in North America at around 10 a year.

The premature baby's bladder spent its first weeks of life in the hospital.

With kind approval

The premature baby’s bladder spent its first weeks of life in the hospital.

The researcher and his team developed a test to determine the appropriate treatment between a bone marrow transplant or a thymus transplant, an organ that allows T cells to mature.

Basically, the patient’s cells taken from 5 ml of blood are exposed to a working artificial thymus: if they don’t respond, the problem is with the cells. If they transform, the patient will need a thymus transplant.

In the past, the doctor said, this type of case was blind.

“There are children for whom bone marrow transplants were useless and then died. Others had to have a thymus transplant afterwards, he explains. We had no choice. We didn’t want to do anything because we didn’t have a test. »

Because without a transplant, a baby’s bladder doesn’t survive more than a year, he adds.

Tommy is the first baby in Quebec to use the test that led to a bone marrow transplant at 9 months of age.

Despite a start in life marked by disinfectants and strict isolation, the boy laughs “all the time” and is “social in the end,” says his mother.

“As soon as he has friends, it’s over,” she laughs. He makes it less big because he’s so positive. »

But it will take time for the mother to adjust as she is not yet ready to send him to daycare even though he could go now.

“The year we learned to be anti-germs will stay with us. Every time we touched him, we had to wash our hands. We’re cleaning the grocery store. Those who come to us limit themselves a week before. I’ll always be scared when he has a fever,” explains the 30-year-old.

Tests to detect “baby blisters” should be performed automatically at birth, as in other provinces, believes Tommy’s mother, who was “lucky” to be early or her illness would surely have gone incognito.

“Premature babies already don’t have a good immune system, so they did tests. Otherwise we would have discovered it with the first cold. He had no T cells [responsables de combattre les infections]he would not have survived much,” laments his mother, Marie-Andrée Filion.

Very often we only become aware of the condition of baby blisters when a benign infection becomes severe because it is not previously apparent.

“We think they are fine, but their immune systems are lacking. They can catch anything and everyone and cause serious illnesses, including the microbes we have inside us that don’t normally make you sick,” explains Dr. Elie Haddad, pediatric immunologist at CHU Saint Justine.

In Ontario, Alberta, Manitoba, the Maritimes and all American states, the screening test that allows you to ring the bell is automatic. Quebec, for its part, is slowly building it up.

“Knowing this from birth allows us to isolate them, be careful and treat them while they await transplantation. It increases the chances of survival to 90%,” the doctor continues.

The problem is that once infected with a disease, bladder babies’ chances of survival drop to about 60%, he estimates.

He is also working with the Quebec government to develop systematic screening for the disease.

“It could have gone wrong very quickly. It’s intense. I think of all the mothers in Quebec who return home with their children without knowing it because there is no such screening,” concludes Ms. Filion with a heavy heart.

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