Every PFIC family has a story. Some are about triumph, some are about hardships, and some are simply an expression of the process that you go through during your PFIC journey. We encourage our community to share your story so that others on this journey can feel connected through the journeys that we share. In a community that is so rare, we strive to find hope in the connections that we make.
“He looks like a perfectly normal child, you would never know that on the inside he would be fighting for his life.”
Click below to read the families stories:
Cade’s Ostomy Journey-A mother’s Acceptance
The diary of a PFIC mom from India
Sophia’s Story with BRIC – a long road to diagnosis
Yolanda’s Story with BRIC
Cedar’s Story with PFIC 2
Armando’s story with PFIC
This event was life changing for me, changed my direction, my approach to PEBD, and parenting a child with an ostomy. It started with something I read on a website, so I want to pass it on to all of you on this website.
When we got the news that Cade was heading to PEBD, like every mom out there, I hit Google. I found a discussion board of people with ostomies (UOAA). I browsed through so many questions and comments looking for something to cling to and show me the way. How were we going to do this? I wanted to absorb everything, or maybe just something.
I came across a mom who said that she planned to make the BEST situation for her young child with an ostomy. She would hide it so well, so no one in the neighborhood, the school or her teammates would ever know. She would keep that ostomy so locked down and hidden…her daughter would be JUST like the other kids! She had cool tricks to hide an ostomy, best products, etc….a perfect plan. This mom was speaking to me. I could relate to this plan.
Then, she went on to say that her daughter went to her very first sleep over in 6th grade– 6 whole years in the same school, and no one had ever known – not the kids, nor parents. Well of course, at that sleepover her bag leaked badly, leaving her daughter mortified and alone. Her friends were confused and parents scared for the next sleepover. No one knew, just like they wanted…. right?
Needless to say, she was passing this lesson forward. This mother strongly warned against doing what she did.
This struck me hard. I was planning on doing the same when Cade hit school age. I thought that hiding it would be how he would have a regular life and be treated like everyone else. Cade is now 16, and this sounds silly looking back, but it changed us. From that moment on, you couldn’t find a person within 50 miles who didn’t know about Cade and his bag. We told everyone! By the time Cade was 5 years old and he entered kindergarten, he was so comfortable with his ostomy that he was showing people (appropriately), and talking about it! He was explaining his disease to those around him. His bag gave him confidence, power and stripped away any shame or stigma. It actually did the impossible, and the exact opposite of what I ever would think… it made him feel just like everyone else. Most kids eventually forgot he even had it.
I have met lots of children with ostomies since and I have learned that for some more introverted kids, this may not be the best path– but for us, it was the BEST decision we ever made, and one worth exploring.
The diary of a PFIC mom from India
She is my second child. After her birth everything was going fine. When she was about 4 months we noticed that she would scratch her ear and it would bleed for hours. Doctors said that it was just dryness. When it happened again and again, we visited our paediatrician to check her pt/inr which was really very high. The doctor thought that she had clotting issues but fate had other horrendous plans for us.
In her 6 months, she started turning yellow and itching increased to another level. The doctor immediately told us of the liver issue and diagnosed her with PFIC.
We have been dealing with ITCHING since then. We have seen worse days and even worser nights. She will itch with everything and anything. If I don’t let her itch she cries so badly. Nothing seems to help the itch. The itch would make her bleed but still she wouldn’t be satiated. She would itch and itch. Ofcourse there are better days when she will itch less and we would just hope for the next day to be better. Hoping for the good days to be here. It breaks your heart to see your child suffer so so very much. Not only it is affecting my daughter but my son my partner, to be honest the entire family. It has completely changed me as a person. The itch has affected my entire family. Hoping for better days.
At the beginning, before we even knew Kennedie had PFIC 2, she was outrageously itchy and we had no explanation as to why. It was a terrible feeling having doctors ask why she was covered in scratches and scabs, and if everything was okay at home. After her diagnosis, she was on three different medications for the itch and it still didn’t stop it. We had to keep her in long sleeves and pants even in the middle of summer. People would ask why we didn’t just give her Benadryl for her itching. People don’t understand that the itch is from deep inside their bodies. We would give her cool baths to give her some relief. I was afraid she would scratch her stomach and pull out her g-tube in the process. As soon as she had her transplant the itch was gone. It was an immediate change and she has been able to wear anything, and more importantly, sleep through the night, which she hadn’t done in her entire life. Transplant can cure the itch, but should never be the only option.
You can follow Kennedies journey on facebook, https://www.facebook.com/KennediesKrew/
Sophia’s Story with BRIC – a long road to diagnosis
Sophia has been itchy for as long as I can remember…as she was able to scratch better with age, it just got worse. At first, when she was a baby, her pediatrician thought it was eczema and gave me hydrocortisone. As the itching got worse, we thought it best to go the a dermatologist. He too diagnosed her with eczema. She would tell me that the inside of her ears itched and I knew it was internal. She would wake up at all hours screaming and inconsolable. We would wrap her in ice packs or give her cool baths. I asked to see an allergist…had her tested for food allergies at the age of 3.
Everything came back negative for allergies but by the grace of God they had accidentally tested her liver enzymes. They were astronomical. They were supposed to be around 300 and hers were 2500. Her pediatrician sent her to a gastroenterologist at Akron Childrens. He was convinced her numbers were high due to bone growth and dismissed it.
In the meantime, her baby teeth are coming in with cavities (she was deficient in vitamin d due to bric). By age 4, she had around 15 cavities. Her pediatrician, dermatologist, and allergist were all communicating trying to find out what this could be. In the meantime, I took her to a psychologist thinking maybe it was anxiety. More blood work…tested positive for scleroderma…sent to rheumatologist. Ended up being a false positive. That doctor did a biopsy for mastitis…came back neg.
At this time, she was so bad that she couldn’t wear underwear or socks because they would snag on all her wounds or it would rub her raw. She was on a total of 5 different antihistamines and also steroids. She was 5 years old by this time and I was pregnant and exhausted. Finally, I reached out to Cleveland Clinic. Started out with a dermatologist who put her on a 6th antihistamine. After 2 days I took her off all meds and we did more blood work. Her ANA came back positive so again we were directed to a rheumatologist. He was at a loss, but because of her elevated liver levels he directed us back to Clevelands gastroenterologist. She sent away genetic testing.
Finally weeks later we had an answer! Bric 2. They prescribed her rifampin and Cholestyramine. My mom was talking to drs at UPMC in Pa. They were suggesting solutions that Cleveland hadn’t even heard of. And if she ever needed any kind of liver surgical procedure they would send her to Pittsburgh so we went there to check it out. Loved the Dr there.. he takes his time and tries his best to answer any questions we have.. pretty sure he’s part of these studies..Dr James Squires. They also have us in a test study to find out as much as they can about her and this disorder.
Currently she is on Welchol (in place of Cholestyramine because she can now swallow pills). She takes Ursodiol twice a day and naltrexone once a day unless she has a flair..then she takes it twice a day. Her last flair was about a year and a half ago…the longest she’s ever gone. They monitor her liver with ultrasounds and blood work once a year unless she has an episode. Can’t tell of any triggers. Sometimes she has anxiety in certain situations and she scratches automatically. She’s very sensitive to clothes, socks, shoes etc…
Yolanda’s Story with BRIC
My beautiful little girl Yolanda has a very rare liver condition called Benign Recurrent Intrahepatic Cholestasis (BRIC) which is a version of condition called Progressive Familial Intrahepatic Cholestasis (PFIC). The difference between BRIC and PFIC is that BRIC comes and goes and PFIC often progresses quickly with time.
Yolanda has now been mostly symptom free for three years. However from birth until around 7 months old, life was very difficult for her. She was constantly itchy and very unsettled. The itch got worse to the point that it was unbearable. She could not sleep, could barely eat and was in constant pain. It was awful to see our baby in such extreme discomfort. At first we thought it may be an allergy but once that was ruled out, at five months old, liver function tests were done. All came back clear! However, one blood test for ‘Bile Salts’ took a few extra days to come back and the news was not good. Yolanda’s bile salts were more than 200 times the normal level!! This was a clear marker of liver disease, most likely PFIC. Yolanda was admitted to The Children’s Hospital at Westmead Sydney for more tests including a liver biopsy. All tests were inconclusive for a diagnosis but by this time her bile salts were 500 times the normal level and she was in extreme pain from the horrendous itch.
Being so rare, there was very little information available about PFIC, resources were limited and it was a confusing time. While it looked to be PFIC, we had to wait months for genetic testing – which finally confirmed she has PFIC 2. ( with a presentation of BRIC 2). Three years ago there were no drugs that treat PFIC/BRIC. However there were a few drugs that can sometimes help stop the itch. She was put on Urso for a few weeks with no luck, however, an alternative- Rifampicin was tried and the itch decreased to a point where Yolanda could function without pain. After some months we stopped the medication and she remained itch free. While Rifampcin can help PFIC it is not an ideal drug as it it processed though the liver. We are still unsure if the medication stopped the attack or it was an episode of BRIC that ended on its own The itch still comes and goes but it’s nothing like those awful, horrible months where she was unbearable itchy.
The symptoms could come back at any time. This keeps me focused on researching treatments and raising awareness of PFIC. In last three years I have advocated passionately for two trial drugs that can directly help our PFIC children and even stop the need for surgery and transplant in some cases. Seeing my little baby is so much pain and knowing it could come back at any time has kept me driven to find safe and effective treatment for PFIC. Our Children deserve freedom form these awful symptoms.
Cedar’s Story with PFIC 2
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
Armando’s story with PFIC
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!