PFIC Scientific Conference: Wrap-Up and Next Steps

The PFIC Scientific Conference Held Many Great Presentations and Roundtables That Informed Both The Scientific And Patient Communities.

By: PFIC Network

June 1, 2022 – 2 min read

Last month the PFIC Network hosted its first ever PFIC Scientific Conference in Pittsburgh, bringing researchers and physicians from around the globe to present their findings as it related to different aspects of PFIC and PFIC related diseases. The conference hosted twelve presentations, five patient stories, and two roundtable discussions, with a total of fifteen different presenters over the two days. We not only had researchers and physicians at the conference, but many of the parents and patients showed up in Pittsburgh to learn, connect, and build lasting relationships. See the photos from the conference at the end of this article!

What did the presentations cover?

The presentations at the conference covered a wide variety of research on PFIC and PFIC related diseases. The start of the conference saw an introduction to the NAPPED consortium and the ChilDReN Network after Dr. Gitta Lubke presented our new patient registry powered by REDCAP. Presentations regarding Bylvay and Maralixibat were a part of the conference to give an update on the safety and efficacy of the drugs, and the effects on bile acids and pruritus. 

The conference presentations closed out with a presentation followed by discussion of Autoimmunity Post Gene Therapy, what gene therapy is, and how it could be applied to PFIC in the future as the technology and knowledge regarding gene therapy progresses. To see a full list of presentations from the PFIC Scientific Conference, go to the Scientific Conference agenda page. Here you will find a list of the presenters and topics covered.

For a breakdown of what was presented at the conference Dr. Jim Squires will give a zoom webinar conference overview presentation scheduled for June 28, 2022. During this call he will give an overview and breakdown of the science presented during the conference. 

Who shared their stories at the conference?

Five parents spoke on the patient journey at the conference. We felt that the patient voice needed to be heard while the people who are researching for a better future were in attendance. The conference opened with a very powerful story from and anonymous caregiver, which set the patient centric tone of the conference. Three of the patient stories were pre-recorded from different countries around the world. Francesca Lombardozzi from PFIC Italia Network, Bernadetta Skora from PFIC Polska, and Zunera Dilshad from Pakistan all shared their family’s story over recording. Two of these stories were told in their native language with a live interpreter present to translate for the audience at the conference. These presentations were a truly powerful addition to the agenda.

What did the roundtable discussions cover? 

We held two roundtable discussions to close out each day of the conference. Day one saw a roundtable that covered “current management pathways”. The roundtables were a place for parents and clinicians/researchers to come together and ask each other important questions, learn from one another, and come up with steps for the vision of what to take on next for clinicians and the PFIC Network. The conversation around treatment pathways led to the discussion about all treatments not being the same, physician 1 doing this while physician 2 would recommend that, and the obscurity behind what treatment is appropriate and when. Overall the discussion posed the question for us “Can we create a resource, a webpage/platform/brochure/etc. that brings together all treatments, best use cases for treatments, and how to standardize these treatments?” 

Day two hosted a roundtable centered around genetic therapy, what it is, and how it could apply to PFIC in the future. The presentation from Dr. Richard Thompson over gene therapy led into a conversation around the possibilities of gene therapy in PFIC patients in the coming years. It is now a real possibility that this can happen, though it needs to happen for other liver diseases first. There are still too many variables and unknowns in changing the genetic makeup of a person and what potential side effects there may be. This roundtable was the conference favorite conversation, rightfully so, based off of our post-conference survey.

Final Remarks

Again, we want to thank everyone who joined us at the conference or supported in any way. A big thank you to Jeff Lord and his family from the DASH Alliance as they hosted the virtual platform and the technical portion of the in-person conference. 

We also want to thank our sponsors for the conference Albireo Pharmaceuticals, Mirum Pharmaceuticals, Sanguine Bio, Cincinnati Childrens Hospital, and Optum Frontier Therapeutics. To learn more about our sponsors, go to our sponsor page here: https://events.pfic.org/scientific-conference-agenda/ 

To register for the conference debrief call mentioned above where Dr. Jim Squires will go over what was presented at the conference for those that were not able to attend, click the link below. 

https://us06web.zoom.us/webinar/register/WN_689h7IeIRa6Uog_vWGQihA

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About the PFIC Network

In September 2018 pfic.org became the PFIC Network, Inc., a 501c3 charitable organization. PFIC Network is run by patients and caregivers with a strong connection to families all over the world. Our mission is to improve the lives of patients and families worldwide affected by Progressive Familial Intrahepatic Cholestasis, PFIC. For more information, please visit us at www.pfic.org.

This week’s Story Sunday is a Rare Disease Day special! Rare Disease Day is tomorrow, February 28, and if you want to Share Your Story for Rare Disease Day email tyler@pfic.org. In this story I interviewed Sophie Bourton, a PFIC mom who lives in the UK. Her story is so good because it provides a great look into advocacy, finding what works, and staying positive.

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. 

pfic kid

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.”  

pfic in hospital

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.

Welcome to another edition of Story Sunday! This Story Sunday is special because I was able to interview the Smith family over Zoom. Chuck and Leah are the parents of 3 year old Chandler, who just went through liver transplant in December. When we had our conversation he was not even 2 months post transplant. Our conversation ranged from symptoms Chandler had and how they found out he had PFIC, to the financial side of living with PFIC. This is a longer story, but well worth the read. 

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.”

I wish I had more space to write about this amazing conversation I had with the Smith family because I had to cut it down so much. They were so much fun to get to know and  they had a lot of great input and insight into the patient/family life. I am happy that they have joined our community as advocates. Thank you for tuning in to another Story Sunday, come back next Sunday for the next edition.

My name is Shawn Roebuck and I am 29 yrs old. This is my story living with Progressive Familial Intrahepatic Cholestasis. I was born in February 26 1977 in a small town called Vernon Alabama. I have lived in Aberdeen Mississippi most of my life. Between the ages of 5 months to a year I had jaundice and severe itching. I don’t remember much, but from what my mother told me I used to itch a lot and dig at my skin. I dug so much they had to put cooking mitts on my hands but that did not help because some how I always got them off.

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The doctors where I lived, around Tupelo Mississippi, thought it was just skin allergies but my mother did not believe that. She took me to LeBonheur Children’s Hospital to see Dr Peter Whitington and his brother Dr Gene Whitington. They diagnosed me with what is now called PFIC. Without treatment they gave me to the age of 6 to live. They decided to try a new procedure that was called a Cholecystostomy Tube tube which drained some of the excess bile salt. It helped relieve some of the itching, but had to be drained a few times a day. I remember a few times when the drain came out and I had to be rushed at the local hospital in Amory Mississippi.

After having the drain for a bit and seeing that it was helping, Dr Peter Whitington and Dr Gene Whitington decided to do a new procedure called cutaneous biliary diversion. At the time I was only three years old and would be first patient to have this surgery done. The procedure is where they took a small piece of the small intestine and hooked it up where it drains the excess bile salt into a colostomy bag, which would need to be emptied at least 8 times a day. After this procedure my itching stopped and I had no jaundice. It was night and day and we were very thankful. I had followed up with visits with Dr Peter Whitington until he left for Chicago. Then Dr Gene Whitington took over my care. I remember many tests especially the biopsies, because I use to play bingo with my mother as I lay on my side.

I had as much of a normal life after the last surgery as possible, I even played little league baseball. I went to school up to ninth grade. I quit school for un-related reasons and got my GED. The only main problem’s I had growing up with PFIC and the colostomy was that a lot of the times my colostomy did leak. I also got really tired quickly and I do not have the strength that I should. But that did not stop me from trying my hardest to live a full and normal life. At age 15 my mother got me on disability. Everyone in my family told me that I should work or try to work. So, at the age of 18, I got off of disability and decided to work the hardest job I could find, construction jobs. I did everything from shoveling to carrying heavy equipment. My body still tired easily. I would work for 10 minutes and then take a 15 minute break. I did not want to quit the job no matter how tired I felt. I have to thank my mother for giving me the never quit attitude. I did construction for five years. One day a freak accident happened where I was working on a three story building and the ladder slipped. I fell two stories and crushed my ankle in one hundred pieces. Two surgeries later, I had two plates and twelve screws put in my ankle. I could not run anymore and I could not stay on my ankle much without it hurting. I tried to go back to work but was unable to continue working and made the decision to get back on disability.

Not working was a complete let down for me. I always told myself never quit and never give up, but that day my health and then my ankle told me I could not hold up to it. I am still disability and suffer from depression and anxiety. I live behind my mother in Aberdeen Mississippi. Without my mother, step dad, and family I don’t know what I would do. They are my rock and if you get anything out of this story please get this one thing. If you are a parent of a child with liver disease or PFIC you are the rock in the hard times your child will face. You are the support when they have to have their biopsy or blood work and with your love they will get through it. This is what I do today. I try to help families with PFIC and other liver diseases cope with the disease and/or the loss of their child. I also spend time with my little sister Chelsey, who is 6 yrs old. I would not change anything in my life. I feel lucky and very grateful, even though my life has not been perfect I am still alive and have a positive outlook on life. If I had one wish it is that every kid and adult with any liver disease, where it be PFIC or other disease would have a full life and a good healthy life.

This is my story and I would not change anything, because the battle with PFIC disease has made me a stronger person.

Welcome to Story Sunday. Each patient/family story will fit a certain theme around PFIC and the challenges of this rare disease. Some more subtle challenges like vitamin deficiencies or post transplant issues often go unseen, but Diagnosis and Itchiness are at the forefront. We want to bring attention to every challenge this rare disease causes.

For the first installment of Story Sunday, we cover Diagnosis. We interviewed one of our fantastic community members, former board member, now PFIC Network Program Associate, Lisa Crompton.

Cadence, Lisa’s daughter, has PFIC 2. She was diagnosed with PFIC when she was 2 years old. Now 13, Cadence is one of our best advocates!

Cadence was diagnosed in April of 2011, but leading up to diagnosis was a rocky road. Cadence was only 5 months old when she started bruising, she was growing very slowly and was having digestive issues. These were the initial signs/symptoms that caused Lisa to realize something was wrong. One of our driving factors at the PFIC Network is “time to diagnosis” and we want this to be as quick as possible. It took nearly 2 years for Cadence to be properly diagnosed.

We asked Lisa, ‘When you received your diagnosis, what feelings and thoughts did you have?’ She replied “Scared, alone, left wondering what kind of life she was going to have. I was 3 months pregnant with her sister at the time and was worried she would also have PFIC.” Fortunately, Cadence’s sister does not have PFIC, but that is not the case for some families.

Having a rare disease that no one has heard of, that no one can see, that doesn’t always show outwardly, is difficult. We wanted to know, “Do you ever feel misunderstood or hopeless because people think you/your child “look fine”? 

Lisa’s response is probably one that parents can relate to, saying “I felt it in a different way, not so much because she looked fine, but more because of all the cuts/soars she has caused by the itch. ‘Are people going to think she is a “dirty kid” because she constantly itches or has cuts all over her face?’ ‘Does everyone think I am a bad parent because of the bags under her eyes from not sleeping’….there have definitely been many dirty looks….”

To end each Story Sunday, we wanted to ask the same question. ‘What is one thing you want people to know or understand about PFIC patients?’

“What the disease does to these poor kids, how it affects their everyday lives, and back when she was diagnosed 11 years ago, the lack of support there was and how important the PFIC network is to me, my family and future families.”

We are so happy to have Lisa as such a large part of our team, and that the PFIC Network was able to be of support and help her and Cadence over the years. We hope we can do the same for each and every one of our community members.

Keep on the lookout on our Facebook next weekend for installment two of Story Sunday.