NICE makes decision to not recommend reimbursement-Community Action Needed

We learned today that the National Institute for Health & Care Excellence  (NICE), the drug decision-making body for England and Wales, put forth a decision not to recommend reimbursement of Odevixibat which is indicated for the treatment of progressive familial intrahepatic cholestasis (PFIC) in patients aged 6 months or older. A similar decision is anticipated in France.

This is not NICE’s final decision and there will be a 4 week public consultation, where anyone with a view can comment. All interested parties are able to review the committee report and make a comments on any of the points that were raised. The committee will meet again on November 10, 2021 to review the consultation.

Click the link to make comments. Please note, you will need to create a login to comment.

Consultation | Odevixibat for treating progressive familial intrahepatic cholestasis [ID1570] | Guidance | NICEThe deadline for report is October 7, 2021.

NICE would be interested in receiving comments on the following: 

  • What are the effects of PFIC on those living with the disease, their families and carers, including the emotional effect, impact on general wellbeing and the substantial financial impact on families?  
  • How significant and urgent is the need for effective disease-modifying treatments for PFIC, and what are the limitations with current treatment?
  • What impact will this treatment have on patients and caregivers’ quality of life if access was granted or deny?

Anyone with a view can comment and we would urge all interested parties to respond if they feel strongly about any of the points raised in the Evaluation Consultation Document (ECD). We hope that with enough feedback to from the community, we can make our voice heard and help ensure access to this important treatment for PFIC patients in the UK and eventually abroad.

Thank you for reading about the NICE drug decision.

Julia is a young lady who just celebrated her 17th birthday. She is an extremely dedicated and gifted student, a member of the National Honor Society, and has been on the principles list during every quarter of her high school years. She just started driving, which she loves, is an experienced trapeze flyer, and she hopes to someday be a Forensic Anthropologist.

 I met Julia about 6 months ago when her mother reached out to me for advice. Julia had been struggling with intense itching on and off for that last few years. She was in and out of Dermatologist’s offices and doctors who continued to prescribe lotions and medications for her itching without relief. Finally, she was referred to a specialist who through bloodwork realized that there was something going on with her liver. Since then, Julia has been in and out of the doctor receiving multiple tests, biopsies and sometimes weekly blood draws to try and find an answer. Early on, specialists believed that she may have a form of PFIC, which is how she found Her mother connected with me while waiting for genetic testing results to confirm a diagnosis. We talked through the horrors of itching and fears of liver disease while waiting for Julia’s diagnosis, sharing stories of our journeys. In sharing my experiences with pruritus and liver disease and seeing the stories that others have shared on our website, Julia and her mother didn’t feel so alone, they felt validated. This is not “just an itch,” the burden that they felt was real.  

In the brief time that we have been connected, Julia got to know our small community. Even though she was going through her own struggle, she couldn’t help but think of what our children and families go through who are struggling with PFIC and the awful itching. Julia decided to write a letter to her teacher saying that she would like to find a way to help our rare community. She was then connected with the Franciscan Youth Movement group in her school. Upon joining this group, Julia shared with her peers her recent and ongoing medical journey and about our PFIC community that she had met along the way. She urged the group to find a way to support the children and families who are suffering with PFIC.

Julia’s will to help has inspired a movement within the school. Now, thanks to Julia and the Franciscan Youth Movement club, we have more than 30 letters of support that were written by a group of teens that are intended for patients or family members who are struggling with PFIC. These letters will be sent out to our community with our personalized care packages throughout the year.

Julia has not been able to receive a diagnosis yet, but after further testing her doctors do not believe that she has PFIC. She is continuing to bounce from doctor to doctor go through test after test in hopes to find an answer. Even though she is not believed to have PFIC, she has said that she is invested in helping our community in the future. Even though she is not believed to have PFIC, we are invested in supporting her through her journey with guidance, mentorship and friendship as she moves through her journey.  Please keep Julia in your thoughts as she searches to find her answers.

pfic community

If you would like to nominate a patient, caregiver or family member to receive a letter of support from the Franciscan Youth Movement group along with a care package, you may order one in our online shop. Please write “Julia” in the comment box so that we can show her and her youth group just how many families their kindness has supported.

This morning, I got to listen to something really special. My daughter and her dad were interviewed for a podcast. Listening to this podcast was the first time that I have ever heard the two of them explain her story. It was an extremely emotional feeling to hear Cedar’s journey from their perspective. I tell Cedar’s story quite a lot, for many different purposes, but this was the first time that I have had the pleasure to hear her version, and even her dad’s version.

The things that Cedar focuses on in her story are things that I will never be able to do justice. The way that she learned to take pills and drain her bile bag, her experience and the way she felt when being put under anesthesia, and the triumph that she feels in having a transplant bear on the wall at Cincinnati Children’s Hospital. Hearing her talk about how she has learned the overcome the many hurdles that she has faced in her young life being a child with a chronic illness truly speaks to how adaptable she has become. I am so so so proud that she is my daughter.

I have to give a special shout out to Cedar’s dad, Dario. He has not been as vocal about Cedar’s journey. Coming from two different backgrounds with different understanding of hospitals and healthcare, we view things through a different lens. But it was really cool to hear him speak about her journey. One of the largest hurdles that we have had to face as a family is going through a divorce. It’s a burden of chronic illness that affects many families, but is a pain that not as many are as willing to talk about…myself included, usually. We do our best to stay connected as co-parents, and Kathy, Dario and Cedar did a beautiful job highlighting the strengths of our family unit in this podcast.

Kathy’s podcast, for the love of climbing, was the perfect platform to highlight our story. Being a part of the climbing community brings us strength. We are who we are because of it. The climbing community, especially in the Red River Gorge, is an extremely special group of people. It is small in some ways, but huge in others. We have forever friends who are more like family who are based all over the world. We’ve made friendships through those who visit the Red that truly last a lifetime. And the local community is extremely special. It is through the support of this global, nomadic community that we have been able to keep our heads above water. The very reason that we took Cedar to the hospital when she was 4 months old was because of our good friend, a fellow climber and a doctor. He has always been willing to pick up the phone and let us talk through our concerns. That dreadful day, he said to us, “If you have to think long, think wrong. Go to the ER.”

I have to give Kathy Karlo a lot of credit. She received all of the information about PFIC directly from She did a wonderful job communicating it to the world. It is not an easy disease to understand, let alone to read through information and share it with the world in a public forum. I listened to it before sharing it through our Network mostly because I wanted to make sure the disease wasn’t misrepresented…something that happens quite frequently in the media. But she really nailed it. It makes me feel proud of our website and the team of people that we have working on it, from volunteer parents and doctors to paid staff and advocates. To know that the website is successfully educating the community at large feels triumphant. It is the ultimate goal.

I need to take another moment and give a huge shout our to the original creator of, Robin Marceca. Robin really laid the ground work starting back in 2002. She originally built the website and made extremely important connections with all of the doctors on our Medical Advisory Board. And she did it all while raising two kids with PFIC, both who have been through liver transplant and post transplant complications. It is because of her early work that we even had an opportunity to grow the website and advocacy group into the wonderful charity that it is today. I hope that we have grown in a way to make her proud.

You can listen to the podcast at this link. Thanks for support!

Posted by: Emily Ventura, Proud Mom of Cedar, Executive Director-PFIC Network

patient registry

We get a lot of questions here at the PFIC Network about the future of treatment options, help for specific types of PFIC, and how will medical professionals ever study this disease further? There are a lot of unknowns when it comes to rare diseases like the one we represent, but there’s also a lot that people are trying to figure out. Our goal is to break down what is happening, what doctors know already and what they may not know yet. 

Treatment options and research take time, like anything else. There may have been a huge breakthrough in research or a clinical trial may be progressing and it all seems very promising. The reality for our community, though, is that there is still A LOT of work to be done. These breakthroughs are wonderful, but they may not be available or accessible to everyone in need, and it certainly won’t be overnight.. Having variables like the different types of PFIC and BRIC changes the research and trials that go into a drug, or therapy because they are affected in different ways. Certain subtypes, cohorts, or populations of groups may be left out of certain research research opportunities for various reasons. It may make the people in these groups feel like they have less hope. . In a rare disease, there is simply not enough data and statistics to know what will work and what won’t. Sometimes this may not feel fair to these patients, but having data is the only way that science can move forward in both a safe and an effective way. Our community is very fortunate to have a community of doctors, scientists and researchers who are committed to finding answers. We are not scientists, but we can do something to contribute and help accelerate their research forward.. Patients can contribute to research gaps by staying in touch with us here at the PFIC Network and taking the right steps to fill out our PFIC Patient Registry. 

The PFIC Patient Registry can help to identify these cohorts of patients and show the need of each. It was developed by the patient community, with the support of the medical community, to help find numbers of patients to contribute to much needed data. If you have a rare subtype of PFIC, then even more reason to join. Help research help us.. Right now we have 108 registrants but only around 57% of participants have completely filled out the full questionnaire. Hitting the 100 registrant before we approached the FDA in March, 2021 was our first goal. With your help, we met and exceeded that goal. Our next goal is to improve our participation rate from 57% to 75% who have completed their registry. If 15 people who started their registry would go in and complete it, we can meet that goal. Completion of the questionnaire helps ensure the quality of the data, and helps the registry stay an important tool for advocacy, researchers, and advancement in trials… And think about it….if all 15 of those people had the subtype PFIC 1, for example, the cohort of PFIC 1 patients would increase from 4 to 19. Showing this eagerness in filling this gap by subtype could be the tipping point in providing more research and trials for these patients. 

So please, if you haven’t already, finish your PFIC Patient Registry for us, and for the PFIC community. If you have any questions you can go to our registry page where there is an FAQ, or if you have further questions you can contact us directly. Together we can work towards improving all lives in the PFIC community.