Sentenced to scratching all the time
Armando Perez was only three months old when he started having strange itching.
His mother, Alexandra Perez, said that the little one was scratching so much that there were blood stains on his sheets and crusts on his arms and legs.
At first, she thought her child had an allergy.
“I tried different laundry detergents and different body soaps, but it was still itchy,” says Perez at her home in Edmonton, while the two-and-a-half-year-old boy and his little sister are playing on the ground floor. floor with their grandfather.
“Then it became all yellow. There, I said to myself that it was not normal. ”
So she took her son to the doctor. Blood tests revealed significant abnormalities. The doctor sent Armando to a specialist and the boy spent a week in a pediatric hospital for further tests.
Alexandra Perez and her husband, Walter, learned that their son suffered from “progressive familial intrahepatic cholestasis”, a very rare genetic liver disease that affects one in 50,000 to 100,000 children worldwide.
Dr. Cara Mack, a pediatrician at the Children’s Hospital in Colorado, says that 40 to 80 cases of this disease are diagnosed each year in the United States. There are six different types.
Armando suffers from type 2, caused by a genetic mutation which decreases the secretion of bile.
Dr. Mack – who is not the doctor treating little Armando – explains that all type 2 patients have symptoms.
“Due to the fact that bile acids get stuck […] it directly damages the liver,” says Dr. Mack. This anomaly results in scarring of the liver, and possibly cirrhosis.
This disease notably causes stunted growth because affected children are unable to break down fats or absorb vitamins A, D, E and K.
“There are significant vitamin deficiencies that can lead, for example, to significant bleeding,” she says. A person who lacks vitamin D can have very thin bones and fractures.
Severe itching is another major symptom of liver damage.
“Bile acids are blocked inside the liver. They go back into the bloodstream and build up in the blood, ”says Dr. Mack. This pushes the affected children “to scratch furiously”.
The itching persists day and night, preventing children from sleeping well. It can even limit their appetite. “It has an impact on all aspects of their lives.”
Only six known cases in Canada
Alexandra Perez was surprised to learn that her son had a rare genetic disorder.
She and her husband are both carriers of the gene that causes it, and they are 25% likely to transmit it to their children. Their two other children are not affected.
To his knowledge, Armando is the only child with this disease in Alberta. “We only know five other children in Canada, so that makes six children in total.”
Little Armando must follow a special diet with a type of fat that he can absorb. He takes vitamin supplements and several medications.
“His condition has improved and he no longer has jaundice,” she says. But the cheerful little boy continues to scratch constantly.
Her itching “is so intense and extreme,” says Perez. It’s constant all the time, and it comes from the inside, so it can’t be removed. He’s scratching all the time, all the time. ”
Armando will soon participate in a clinical trial that could reduce his itching.
“It won’t change the progression of the disease, but it could help with the itching, which is his main problem,” says his mother.
Until then, her parents will continue to watch carefully for signs of illness: weight loss, jaundice, swollen belly.
The child will likely need a liver transplant before the age of 10.
“It’s hard to see it that way knowing you can’t do anything,” she breathes. There is no cure. ”