Whether you are a patient, caregiver, family member, or friend, you have a unique and important story to tell about PFIC and related diseases. PFIC family stories are one of our community’s greatest tools, as they share our strength, resilience, and the lessons we’ve learned. They also help more clearly reveal our unmet needs. This can help guide advocacy efforts and inspire scientific research to address them.
Some of our stories are about triumphs. Some are about the hardships and burdens of life with a chronic rare disease. Others may be about the support found with others on the same journey. Reading and sharing PFIC family stories can be a powerful way to empower patients and families. We encourage members of the PFIC community to share stories so that others on this journey can feel less alone. In a community that is so rare, we strive to find hope in the connections that we make with others.
Over the years, we have gathered stories from PFIC patients, families and caregivers all over the world. In addition to the stories posted below, we also have video family stories on our Youtube channel. From Sadia in Pakistan to Francesca in Italy, we all have our own story to tell about what life with PFIC looks like. Please contact us if you would like to share your PFIC story.
“He looks like a perfectly normal child, you would never know that on the inside he would be fighting for his life.”
On a summer night in June 2023, Liam woke up to a persistent nosebleed that lasted over 45 minutes. Concerned, we decided to call 911 for medical help when Liam started vomiting blood. Emergency services were called, and upon arrival, Liam’s bleeding nose had stopped, and he was alert. They cleaned him up and his parents scheduled a visit to his primary healthcare provider the following day.
During the primary doctor’s visit, Liam appeared fine, which led to the doctor stating his symptoms occurred due to seasonal issues. However, his family persisted in requesting blood work. Reluctantly, the doctor agreed, which eventually revealed concerning results. Urgently, Liam’s parents were told to bring him to Children’s Hospital of Philadelphia (CHOP) for further evaluation.
At CHOP, Liam underwent extensive testing as doctors explored various possibilities, including Leukemia and Lymphoma, which were both ruled out. After a week of hospital stay and numerous tests, Liam’s case took a complex turn. As the Fourth of July weekend approached, we were shifted to outpatient care due to limited medical staff availability.
The medical mystery surrounding Liam continued with appointments, ultrasounds, and genetic testing. A long wait followed until genetic testing revealed a diagnosis of PFIC-3 in March 2024. Subsequently, Liam’s sister was also tested and diagnosed with PFIC-3 along with Alpha-1 AT deficiency.
Now, we are navigating medical interventions for both children to determine the course of action and the potential need for liver transplants.
Inabiyah Pari was diagnosed with PFIC 2 when she was 8 month told.
“She was jaundiced since birth and after a lot of tests and a biopsy we had no answers. With the help of genetic blood screening she was confirmed with PFIC 2. It was like a sky falling on us because she was the most precious thing in our lives and we are living Far away from our family and friends.”
Inabiyah Pari is from Sydney, Australia.
“Thankfully with the support of our doctors, nurses and friends we overcome that shock and we are very hopeful in This journey.”
Sophie’s timeline is a little different as her story starts with her and not her child. When she was 16 she started getting sick and at 19 they realized she had gallstones. When she was pregnant she also had obstetric cholestasis. These were both signs she was a carrier of PFIC. She never knew why she was sick and had gallstones at such an early age and she found it odd that the doctors never looked into it further.
When her daughter Eva was born she was very thin, her liver levels were completely off and she was in the hospital over and over with “failure to thrive”. She was not growing, her salt levels were low, and she was not absorbing any nutrients either. The doctors said that her liver levels would regulate, that it was common for babies to experience bouts of irregularity but Sophie had a feeling that they were wrong. The obstetric cholestasis Sophie experienced was her first clue. Sophie joined a facebook group for mothers with obstetric cholestasis asking what could be the cause. Finally another mother responded saying that there has been a link to two different diseases. One of them being PFIC.
Sophie began pushing the doctors to do some tests on Eva and they found that she did in fact have PFIC 3. It took 9 months for Eva to be diagnosed though it would’ve taken longer if she didn’t push them to do the tests. Even then, to get the genetic sequencing results for themselves it took 6 months. Sophie’s husband has the normal PFIC 3 mutation and Sophie has a varied version of the same mutation. Sophie did not know she was a carrier until Eva was diagnosed. She said that the doctor told her that her gallstones at such a young age should have been investigated further especially since they had been in her family for a few generations. She has been referred to have some liver tests now to make sure her liver levels remain normal after having obstetric cholestasis during pregnancy and her liver levels being so up and down.
One of the main symptoms of PFIC that Eva experienced was poor nutrition, which doesn’t get talked about enough. Eva Wren had nutrition issues and they did not know if it was allergy related, PFIC related, or both with the potential of food allergies related to PFIC. Eva couldn’t keep any food in her. She had constant diarrhea and threw most of her food up. Nothing seemed to help and she wasn’t getting much better as she got older. Finally, Eva started on ursodeoxycholic acid and since then Sophie said that Eva has done a complete u-turn. Eva was so thin up until she started on this medicine that she was “skeletal”, but since starting the medicine she has been putting on weight. Sophie even took Eva to the hospital for a check-up a couple days before our call and the doctor said to Sophie that she “has to watch Eva because she is ‘getting too fat.’” This is a major win! It could have seemed hopeless for the Bourton’s that Eva wasn’t going to get better when she was “skeletal” and not retaining nutrients, but they stayed positive and kept looking for something to help. Finding a drug or treatment that changes your life could be possible and the Bourton’s found just that.
They don’t know how long this will last as there is scarring on her liver. But they have had a year now where they have had relief from PFIC. She has been able to go to nursery and be a normal child. They are hoping for the best as they move forward with ursodeoxycholic acid.
I asked Sophie how she felt when the diagnosis finally came through, and her response was just like any mothers would be; “I just felt like there weren’t any options available to us. I felt sad but more so frightened for Eva. It was a domino effect where I was frightened for Eva, then frightened for us with our jobs and financially.” Sophie also mentioned that she felt hurt from people not helping them when they needed it most and that it was hard to move on from that. The pandemic, as I am sure many can relate, made it hard to cope. A lot of the coping mechanisms like seeing family, traveling, getting out of the house were all taken away at the same time.
Sophie wants Eva’s story to be a ray of hope to show other parents that there is potential in things getting better, and with research improving over time. Eva’s story has shown this so early in her life.
A Strong Advocate
Sophie has been a very strong advocate for PFIC, especially when there was a push to get the drug (Odevixibat) approved by NICE in the UK. Sophie has also joined in on the PFIC Awareness Day campaign, shared photos of Eva and now has shared her story! We are very grateful for such strong advocates. When I questioned why she advocates, and on such a high level, she said it was because she knows how important it is to spread awareness, especially for a disease that no one really knows about. Sophie told me “I was actually relieved to receive a diagnosis. When you are a first time mom, other moms can be really dismissive. Saying ‘oh yea my baby was skinny, my baby was small, my baby was this…’ and they didn’t understand the extent to which Eva was actually sick. With covid people couldn’t see her, so other people would say ‘yea don’t worry about it’ but they didn’t understand.”
Another question I posed to Sophie was “What else, other than being a parent of a child with rare disease, pushes you to put in the work, be an advocate, and share your story?” Her reply “I think really it’s just desperation to improve things for Eva. Whether it’s raising money, pushing research, or getting the drugs approved. I just want to help her, and then even if one person is helped get a diagnosis because of what I have done, posted, or said then it was worth my time.” Sophie also said that she can see why it is hard for parents to do the advocacy work, when your child doesn’t sleep through the night, is itchy, is still sick every day, it is almost impossible to do advocacy work. Now that Eva is well, Sophie wants to make the most of the time, and do as much as she can while she has the time.
The Bourton family was also another example of utilizing the financial assistance available for families affected by PFIC. They ended up using the Children’s Liver Disease Foundation, and received financial assistance through them, and as Sophie put it “that really saved our bacon.” If you are in need of financial assistance, it never hurts to ask. We have our financial assistance program set up to help families in need and all you have to do is apply.
I finished the interview asking the same question as all the other interviews. What is one thing you want people to know about PFIC patients? Sophie answered “I want people to know that it’s not just a liver disease, it affects every part of the body. I think people underestimate how important the liver is and it causes all of the things from nutrition to development, anywhere from size to eyesight.” I thought this was an amazing answer, and it was one I had not heard before.
It was a lot of fun getting to know Sophie and Eva’s story, as well as hearing all of the input she had on the disease, the network, and staying positive with a rare disease. Thanks Sophie! I hope everyone enjoyed this edition of Story Sunday and got a positive message from such a positive person.
Chandler is 3 years old, 2 months post transplant, and only found out he had PFIC last September. The road to having a liver transplant happened very quickly for the Smith family going from not knowing he had PFIC and knowing about the potential for a liver transplant, to learning the name of the disease and being told he needed transplant within the next 6 months. 3 months later in December of 2021 Chandler would have his liver transplant.
I asked them what kind of PFIC that Chandler had, and they didn’t have a clear answer. They were told that he has PFIC syndrome, but could not narrow it down to one of the PFIC types or subtypes that have been seen. Meaning that it was not showing up genetically, but all of the symptoms were present.
They knew from Chandler’s birth that he had something wrong with his liver. He was born 7 weeks early and was in the NICU for about a month, and while there they noticed he had elevated bilirubin. At the time, they believed the liver issues were akin to being premature. At 5 weeks he had a biopsy to check for biliary atresia which came back negative but the signs were there that his liver was not working properly. Chandler also had the itch. His itchiness was moderate to severe. He would scratch his ears until they bled, Leah kept his nails short so he didn’t cut himself, and he would sway back and forth in his seat to scratch his back or belly. When I asked about his sleep, they said at first the itch affected it a lot, but for a while they attributed it to him being premature. Though later they would realize it was because it was itchy. They ended up trying hydroxyzine and it worked! Chandler started sleeping through the night and his itchiness was bearable.
For the longest time they did not know what Chandler was experiencing. They were only ever given the names of the symptoms that Chandler was having. They did not know he had PFIC until they learned of a drug trial to combat liver cholestasis at Georgetown. The doctor immediately told them that he needed a transplant. From viewing his labs, and after seeing him in person, they knew. Leah said that “sometimes you feel a little silly when people ask what your son has, and you have to answer with ‘I don’t know’.” They finally had a name for the disease that was causing their son’s liver to fail. Chuck made the comment “I felt a sense of relief. There were so many complex terms, and symptoms. It was hard to understand and repeat to others. But when I learned it was called PFIC, that’s so simple! There was a name for this disease and it isn’t so vague anymore.”
At only 1 year old, Chuck and Leah were told that Chandler would need a liver transplant. Leah said for them “It wasn’t a question of ‘if’ Chandler would need a liver transplant, but ‘when’. Would it be 3 years? 5 years?” A year later it was time to find a donor. After their conversation with the doctor at Georgetown, they knew it needed to be sooner, and 3 months later he had his liver transplant. Chandler is now 2 months post transplant, and is in great spirits. He is running around, playing, and as his mom said “You would never think anything is going on with him.” Liver transplant is not a cure however, as I am sure many of you know. Even though Chandler is running around and playing there are always the what ifs like complications, liver enzymes rising, the return of the disease. Chuck mentioned that Chandler may say “my tummy hurts” or have diarrhea one day and they don’t know whether he is just being a toddler or if it is something with his transplant. Not to mention the 12 medications he is on to help his body with the transplant.
After the transplant they thought that finding other families that had children who received liver transplant would help them find some clarity on the what-ifs of transplant. The other family they talked to did not have a PFIC kid but they did have a lot of great insight and provided some comfort to the Smith’s. They knew that the worrying would never stop but they could have a little piece of mind. This continues to show how important connection is, and how finding people with a similar challenge as you can make everything seem much less daunting. Leah had a great insight into what other parents can do for self-therapy while Chandler was going through PFIC and liver transplant. She had put together a blog for herself to use as an outlet or talk about the experiences she was going through and the struggles. Not only was she using the blog in that way but she said that it would also be used for Chandler to look back on when he grows up to see what he went through and understand a little better. The third reason she mentioned was for other families to see. To show that it is very scary and overwhelming, parents have so many questions, and she was hoping that her blog might be a good realistic source. See the blog here: https://chandmantough.weebly.com/.
We met the Smith family through our financial assistance program. They applied recently and we were so excited to help them get rid of a few outstanding bills. This is exactly what our financial assistance program is designed for. Chuck found out about our financial assistance program the first time he went to our website when he was trying to learn more about the disease. He didn’t look into the financial assistance until he thought they were ready to sit down, get organized, and ask for the assistance. There was also a factor of feeling comfortable enough to ask for help. They received assistance from a social worker to look into fundraising through their close friends and family, and through an organization called COTA. Unfortunately, fundraising is hard, and asking for money to support a child whose disease isn’t well understood can be daunting. It is hard to let people know your personal financial situation as well. People may see a family and think they don’t need the money, but they don’t know what comes with a rare disease, or the burden that comes with liver transplant and just how high the costs can be.
One of the best parts of the conversation we had was about insurance, taxes, and financial planning. Even if you plan for these things, you can never really plan for these things. Who could plan for multiple thousands of dollars in extra costs per year? Between the piles and piles of medical bills, getting bills from the hospital and different departments, finding out what insurance covers and doesn’t. All of this combined can make things seem impossible. The one message Chuck gave for all of this was to “Stay organized, try to learn as much as possible, and to stay positive about it. Everything will be ok.”
The final question I asked them was the same question I have been posing to everyone. “What is one thing that you would like people to know about PFIC patients?” Leah answered “Even though Chandler has had this disease from birth, he is still a normal little kid, and he is no different from anybody else.” Chuck responded “These families are going through a lot of stress, and you may not know it because they try not to show it.”
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.
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.
Three weeks after Anna was born her skin became yellow. Our pediatrician sent her blood for analysis. Her results were not normal, so he told us to consult Prof. Richard Thompson at Kings College Hospital in London. At King’s she had a liver biopsy and genetic test done. After 2 months we got the diagnosis – it was PFIC type 2.
She started taking medicines: Ursofalk, vitamins A, D, E, K. Her blood test results improved, but still were not normal. Her jaundice disappeared, slowly. The symptoms worsened after she turned one. In the beginning she suffered from itching every few days. Rifampin helps the itching temporarily. Then she scratched herself more and more. Nights were worse than days, she woke up every night screaming and it was impossible to calm her down. The hardest thing was not being able to help her. When she was one and half years old we managed to get her into EAP Albireo.
She responded well to that medicine but she still suffers from itching a bit. We really hope at the medicine that she’s taking will allow her to live a normal, happy life. We believe that someday new genetic therapy will be developed and PFIC will be completely curable.
My son was twenty days old when I noticed something was wrong with him. He was very fussy and would cry a lot without any reason. He would poop ten to twelve times a day and poop was oily. We visited a lot of doctors that thought he had colic issues. When he was five months he got jaundice. We visit gastroenterologist who told us he might have pfic 1 or 2. Unfortunately, Pakistan has no facility for genetic testing so for six months, we were very worried. Then Emily Ventura helped us find a way to get genetic testing and at one year old we confirmed our son had pfic 2.
From the first symptom until now we don’t have proper medication in whole of our country like cholestramine and neltraxon. We have to travel five hours to visit our liver doctor and use treatment is also very expensive.
Hardest part of pfic is the itching. I hate to see my son in so much discomfort that he even can’t sleep at night. It’s also heartbreaking to see him get taunted for itching so bad.
A lot of things like experience of people from pfic Facebook group helped me to tackle itching and one member of the group from India told me about an herbal medicine that helped a lot. My son has been using it since one and half month and itching is considerably less, his health improved and his appetite increased, I would suggest to all pfic parents to talk with other parents who have experienced this disease. They help a lot.
Keep your kids cool as itching becomes worse in hot conditions and herbal medicine that is proved good for my son until now after 3 months labs will be conducted and I will post a review of that medicine
We are Francesca and Simone the parents of little Eva Luna. After her first month of life Eva began to grow up little by little, squirming at night and rubbing her little eyes wherever she could. All these symptoms were mistaken for gastroesophageal reflux. We started very strong therapies, but Eva started crying often, it was a heartbreaking cry, especially in the evening. We were told it was colic! But we knew something was wrong, we just had no idea how much. When she was three months old, she became jaundiced, she got diarrhea and we went to the emergency room. We were rushed to hospital, the first three days we spent the nights away from her and Eva cried and we cried with her. One morning we arrived in the ward and found her shaved with a canula on her head, they found no other veins available. I became a difficult mother. One of the doctors told us that many pathologies had been ruled out and that he suspected a genetic reason, he whispered in a low voice the words “progressive cholestasis”.
They moved us to a department where we could stay with her but I became less and less manageable. I read that progressive cholestasis affects one child in 100,000, and I told myself that it couldn’t be us. We kept hoping for a transient cholestasis. We went home but they kept repeating that they were waiting for genetics. The result of genetics came. Progressive familial intrahepatic cholestasis type 1. New and untreated disease.
To this day we cannot find the words to describe what we felt. You suddenly find yourself in total darkness. We only knew that at some point in her life she would undergo a liver transplant. I am not ashamed to say it, I fell into depression, I couldn’t get out of bed, panic attacks became companions of my days. My son Ernesto watched us and in his 5 years he saw his sister taking medicine on medicine and a mother torn apart. Simone became a superhero, he had to manage his pain, protect Ernesto and try not to let me touch the bottom, even today I still wonder how I would have done and how I would still do without him, without his strength. He looked at Eva Luna and felt the joy of being a father, of having her there despite everything, despite the monster was at home. I only saw the pain, but the spirit of survival and above all the love I feel for her, he told me to react and at a certain point I began to see her, she who together with her brother is the reason for life.
Months went by, we started to study, we discovered that type 1 of this disease is basically the worst, transplantation is not resolutive because other organs are involved, intestine, pancreas, short stature and deafness. Yet another blow. We came into contact with other families and with the international Pfic network, there were experimental drugs for itching. Itching that continued to increase day after day. We went to northern Italy where the trials were active but it seems that Eva Luna’s genetic mutations were not compatible with enrollment in the clinical trial. After months of stopping because of Covid, good news arrived, Eva had been enlisted in the trial! Hopefully we start the drug.
Months later we can say that it is not Eva Luna’s drug, that there was no miracle. The itching is taking away everything, it’s taking away Eva who is no longer living her days. She doesn’t sleep more than four hours at night, the rest she spends trying to tear her skin. We try to distract her as much as possible sometimes it works, especially thanks to her brother, a little warrior himself, called to fight a war too big.
She is the strongest and toughest little girl that exists, but we can’t ask too much of her and you tear yourself apart because you can’t help your daughter, you despair. In front of us there are only surgical options with little chance of success. Only RESEARCH could work a miracle. The association Pfic Italia Network was born also for this reason, to give a chance to that miracle.
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.
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.
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 negative. 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…
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.
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!
