A sister and a brother are the only two in Canada with their rare illness

Gabriella and Benjamin Bloom are the only two diagnosed in Canada with a rare gene mutation that prevents their bodies from absorbing fat. Their doctors took years to find what was ailing them, unable to understand why the two babies were not keeping any food down.

Today, Gabriella, aged 14, and her brother Benjamin, aged 10, laugh while talking about their seafood diet. The two young Montrealers love shrimp, oysters or even octopus.

“They are fancy», Says their mother Alyssa Scheim, who spends a small fortune to feed them. “We make burgers for the two of us, then lobsters for the kids,” adds their father, Robert Bloom, with a laugh.

Almost alone in the world

Both of their children have a mutation in the DGAT-1 gene, which means their bodies cannot absorb fat. This is an extremely rare and poorly documented mutation, so only around twenty people in the world have received a diagnosis.

It was on February 18, 2014 that they obtained the verdict, an anniversary that the family has celebrated every year since. Because the first years were a real ordeal of anxiety for the parents.

When she was born, Gabriella was vomiting and suffered from chronic diarrhea. She constantly lost weight, even though her parents fed her more and more.

Only eight days old, she returned to the hospital to be force-fed. She was hospitalized for months, where doctors were tearing their hair out trying to figure out why the little girl remained so ill.

“It was test, after test, after test,” his mother recalled. “Then, re-test, re-test, re-test,” his father continues.

Eventually, Gabriella ended up with a tube to feed directly into her stomach. His parents also gave him Imodium four times a day to control his mysterious illness.

Thanks to his brother

Then his brother Benjamin was born and he also lost weight quickly.

Immediately, he was fed through tubes, like his sister. Then, doctors determined that the cause must be genetic if both children suffered from it.

Thus, a whole battery of tests was redone, and it was a doctor in the United States who traced a similar case, having been discovered for the first time barely a year before, among Ashkenazi Jews, where the Bloom family has its roots.

Knowing that the children did not tolerate fat, their diet quickly changed. At age four, Gabriella told her parents that her stomach no longer hurt for the first time.

She and her brother had to learn to eat by mouth, with great reluctance at first. But Benjamin asked his parents why he had a tube and they didn’t. Then, his sister wanted to imitate her brother.

They eat a diet rich in protein, but they can afford fat in moderation. Gabriella loves strawberry ice cream, for example, and they ate fried donuts to celebrate Hanukkah.

“She could have died so many times”

Gabriella Bloom’s rare genetic defect tormented Montreal Children’s Hospital pediatric gastroenterologist D for years^D Véronique Morinville, who had never encountered such a mystery with a patient.

“She could have died so many times,” she whispers about her young patient. While intravenous feeding had stabilized her condition, it put Gabriella at high risk for serious infections.

Infections that she has contracted on several occasions, since the tubes and catheters allow bacteria to sneak into the body.

For years, she saw Gabriella every week to the point where she knew her date of birth and file number by heart.

“You feel responsible as a doctor, you try to talk to everyone you can,” she continues, admitting to having felt helpless.

Help from Los Angeles

With the birth of Gabriella’s brother, who suffered from the same symptoms, the theory of a genetic problem became clear, even if nothing had been found in the past.

With the parents’ consent, she posted a summary of their situation in an online discussion group of gastroenterologists from around the world.

A doctor in Los Angeles, USA, thought it was similar to a case that had been reported in a scientific journal about a year before. DNA was sent to him to find out.

“Oh my God! We found the problem, exclaimed the D^D Morinville. Not knowing what you’re treating limits you as a doctor.”

According to her, the mutation is perhaps more common, but underdiagnosed. Several patients died young, and others had much less severe forms.

Even though the mutation was only discovered 10 years ago, medicine and genetics research have made giant leaps, says Dr.^D Morinville. In 2023, a baby with the same symptoms as Gabriella will fortunately be quickly diagnosed.