Canadian Boy’s Rare Disease Makes Him ‘Itch Like Crazy’

The Calgary Herald published a story about 2 and 1/2 year old Armando Perez’s rare disease Progressive Familial Intrahepatic Cholestasis (PFIC), with has left him unusually itchy.

It’s so important to be on the lookout for any unusual symptoms or changes to normal body reactions; something as simple as persistent itching can reveal something else.

What is PFIC?

Progressive familial intrahepatic cholestasis is a group of liver conditions that are caused by defects in the biliary epithelial transporters, which are cells used in the regulation and transportation of bile out of the liver. PFIC affects mainly children.

The onset of PFIC is usually before age 2, but patients have been diagnosed with the PFIC even into adolescence. In addition to the intense itching, early signs of the condition are cholestasis (obstruction of bile from the liver), jaundice, and failure to thrive.

To read more about PFIC, click here.

Intense and Extreme Itching

According to Armando’s mom Alexandra, the itching began at around 3 months old — where it got so bad that there were blood stains on his bedsheets and scabs on his arms and legs.

When little Armando started turning yellow — jaundice — Alexandra knew something was up. He was soon diagnosed with the rare PFIC, type 2.

And while some of Armando’s systems have improvised or subsided (like the jaundice) since he was diagnosed (over two years ago), his itch is still there.

“The itch that comes from it is so intense and extreme,” explained Alexandra. “It’s constantly all the time, internal, so it can’t be taken away. He’s just always, always itchy.”

PFIC is so rare that Armando is only one of six people in Canada that has been diagnosed with it.

Waiting for Hope

Armando is to start a clinical trial soon that could address the itching.

“It doesn’t do anything for the progression of the disease, but it will help with his symptom of being itchy, which is his main problem,” said Alexandra.

In the meantime, his parents will continue to monitor little Armando for any more signs or symptoms of FPIC —  losing weight, jaundice, an inflamed belly, and more.

At this time, there is no cure, so it is likely Armando will need a liver transplant before he turns 10.

Keeping Armando, Alexandra and their family in our minds and hearts — may 2020 be the year of a PFIC treatment breakthrough!

Do you have experience with PFIC? Share your stories, thoughts, and hopes with the Patient Worthy community!

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