Cedar was diagnosed with PFIC 2 when she was 5 months old. We were traveling visiting family in Wisconsin when she developed random bruises on her back and a swollen shoulder out of nowhere. We took her to the ER and she was in full blown liver failure. Nobody could understand why, but they were able to stabilize her and we were sent home to Kentucky to wait on test results.
After one month went by, in and out of the hospital, genetic testing came back and she was diagnosed with PFIC 2. She was jaundice, super itchy, and she cried all the time. Her doctors started her on a lot of different medicines including ursodiol and vitamin supplements. After another month she was started on Rifampicin because her itching was out of control. We used to have to keep her covered from head to toe because if there was any bit of skin showing she would scratch it until it bled.
The Rifampicin did help “take the edge off,” but when she was 15 months old, the itching was still so unbearable that her doctor recommended surgery. At that time there were no trial drugs that were available, so she had a partial external biliary diversion (PEBD). At first, it didn’t really work. We had been hoping for relief, but now she was very itchy and had an ostomy bag that she was always scratching off of her belly. But we all adjusted and it was manageable, and after about a year her itching did finally get better, actually became non existent. Whether she grew out of it, adjusted to it or the bag finally did help to control her bile build up we’re not quit sure, but it was much better.
Things were finally going very well for the first time since she was diagnosed at five months. We still kept a very close eye on her. We traveled two hours to see her specialist every three months to check in on her with labs and a liver ultrasound. Unfortunately, at age 5 we started seeing more signs that her disease was progressing. Her spleen was becoming enlarged, which started to trap her platelets and other blood cells, her vitamin levels became chronically low, so low that she was at risk for complications even though she was on the highest dose of supplements, and she was getting more and more tired during the day. Her liver was becoming stressed and we felt like she was a ticking time bomb. We had maxed out the current available treatment options for Cedar and she was still getting worse, so her doctors and us decided it was time to list her for liver transplant.
We knew that we were making the right decision, however it was extremely hard to accept that this is what needed to happen. That if maybe if she were born ten years from now, there would be medications or other treatment options that could help or cure her. We were grateful that she was able to go five years before she needed a new liver, but it was hard to accept that she would need a new liver at all. With that being said, she was transplanted within 2 weeks of being on the list. She recovered extremely quickly from surgery and we were home within a month. So far, we have had one episode of rejection and one hospitalization for pneumonia, both went very smoothly. She has a mild form of the post transplant complication AIBD, but we will just take that as it comes.
After we saw the picture of her old liver (in the pictures above), we knew we made the right choice. It’s hard looking at that picture and wondering what would have happened if we waited. We still wish that her disease were curable and that she never would have had to go through this, but it is what it is at this point. She is currently happy and full of life, and we couldn’t ask for anything more.
You can find a link to the full blog of Cedar’s journey with PFIC at https://www.caringbridge.org/visit/cedarventura