Armando was diagnosed with PFIC when he was 5 months old. He was born a seemingly healthy baby but around 3 months old he started to cry frequently and was inconsolable a lot of the time. Shortly after that he started to become itchy. At first we thought he had allergies so we tried different soaps and laundry detergents and it made no difference.
Over the next couple months he became so itchy that his sheets would be stained with blood when he woke up. It was at this point that we also noticed he started to look yellow. I knew that wasn’t normal for a baby his age so I took him in to the doctor that day. The doctor ordered some blood tests and sent us home. When the results of the blood tests came in our doctor immediately sent Armando to be checked out by a specialist. The specialist admitted Armando to the hospital that same day as he wasn’t sure what was going on and wanted to run multiple tests (x rays, ultrasounds, liver biopsy, genetic test) over what turned out to be a long week in the hospital.
When Armando was released from the hospital we were not given an actual diagnosis, we were just told that in the end his liver won’t do well. About a month later genetic testing confirmed Armando had PFIC 2. This was by far the most difficult time for us. Armando was extremely itchy, losing weight, very irritable and inconsolable, and we had just learned that he would most likely require a liver transplant sometime in his childhood.
He was started on a few different medications and multiple different vitamins. A few weeks after that his doctor wanted to give him an NG tube because he was losing weight and refusing to drink a bottle with a specialized formula. After a call with the doctor and a very long 18 hours without eating anything, Armando finally took the bottle and we were able to avoid the NG tube!
Armando has been on multiple different medications which some have worked for a season and then seem to stop helping altogether. Currently he is about to start on one of the new trial drugs and we are hopeful that this could finally give him some relief from the constant itch!
It’s really difficult watching Armando when he is in pain and scratching himself for the majority of the day and we can’t do anything to help him. We are hopeful that there will be effective treatments for PFIC in the future! Armando is such a loving, adventurous, joyful boy and we can’t wait for him to finally be itch free one day!