New study could give hope for genetic liver condition

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Health Canada CU – Armando Perez was just 5 months old when he was diagnosed with progressive familial intrahepatic cholestasis (PFIC), which is a rare genetic disease that results in progressive liver failure, where symptoms usually include jaundice, poor weight gain and pruritus (severe itching).

Susan Gilmour, a pediatric gastroenterologist and member of the Women and Children’s Health Research Institute who is treating Armando stated that symptoms could sometimes manifest themselves as moderate to more severe which would then require liver transplant in early years.

Dr Gilmour also stated that there was no cure the treatment for PFIC generally involving slowing down liver transplant together with enhancing quality of life where she explained how Armando’s severe scratching became his main focal point.

“He had scars all over his arms, his legs, his face, just everywhere,” said Alexandra Perez who is Armando’s mother. “It was so bad that he couldn’t sleep. He would just be awake all night scratching, and then you would find him in the morning sleeping on the stairs or sleeping on the floor in the kitchen in the middle of the day, because he just couldn’t rest at night.”

Armando’s Doctors stated that the condition had a spectrum of severity that can range from occasional, to moderate issues, to an extreme impact that needs a liver transplant.

Doctors attempted to treat the symptoms with a variety of medications to no avail. As Armando approached his 5th birthday, the itchiness of PFIC continued throughout the years. Weight loss together with discomfort that he lacked energy to interact or play with his brothers and sister.

There was new hope for Armando as his parents Alexandra and Walter Perez found out about a clinical trial at the PFIC Advocacy & Resource Network family conference in Cincinnati, Ohio of the United States.

Since participating in the trial Armando who was due to get a liver transplant as a result of the severe itching has seen a huge improvement, which offers great hope for the condition.

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