Patients Supporting Research in PFIC
I remember one of the first times that I raised money for rare disease. My daughter was 3, maybe 4, she had been diagnosed with PFIC and had gone through the PEBD surgery, which was unsuccessful, so she was still itchy. It was a time where I was scared, tired, and hopeless. I wanted to help speed up research, find support, use my nursing background to navigate through the weeds of “why don’t we have more answers, what can I as a patient’s mother do to help.” I had no idea, and no available energy to figure it out.
Then, the ice bucket challenge happened. Remember the ice bucket challenge? It was an awareness/fundraising campaign for ALS that went viral and raised $115 million dollars back in 2014. It was perfect. I didn’t have the drive or the energy to figure out on my own how to help PFIC, but I could certainly jump on this opportunity to do something. So, I participated in the ice bucket challenge by raising money and awareness not only for ALS, but I added in a donation to NORD (National Organization for Rare Diseases). I posted on social media through all of the channels along with a small blurb on NORD and about Cedar’s disease, PFIC. I felt empowered.
But then….someone in the BRIC/PFIC support group commented…it was along the lines of, “that’s great, but isn’t there something that we could donate to for PFIC specifically?”
There wasn’t.
Now, if you were to ask me that question, after a few years with a career as an advocate, I could talk to you about all of the ways that NORD and other umbrella organizations do actually support PFIC amongst other organizations, and how they provide resources that can offer extreme benefit to our community. But that’s not the story I want to tell.
That comment stuck with me. It weighed on me. “She’s right,” I would think, “There is no organization that we could donate to that focuses specifically on PFIC.” I didn’t do anything at the time except think about this. But two years later, I volunteered to take over pfic.org. Tara Kearns and Melanie Karakaidos joined me, and we quickly decided that pfic.org needed to become the place, the place where people can go to support PFIC specifically.
PFIC.org is much more than just a website. It’s a community. A community of patients, caregivers, loved ones, researchers, scientists, industry. It’s a community that reaches across the globe, to patient’s who are experiencing different forms of the disease in different ways. It’s a community where patients ARE the experts in what they are experiencing, and researchers are learning from OUR experiences. They are listening. We are helping to guide science to finding the answers that WE need.
Not only are we informing research, we are now funding it. In the past two months, three different examples of patient funded research in PFIC have been announced.
1) *Updated* The PFIC Network has now awarded our first ever research grant to Dr. Paula Hertel of Texas Children’s. PFIC Network has opened the application period to fund research that aligns with patient priorities, as defined by the patient community. This is the first award in what we hope and plan to be an ongoing program. View opportunity here
2) The Colucci family who lost 2 boys from PFIC back in the 1960’s and 70’s donated 1.5 millions dollars from the Peter and Tommy fund to Cincinnati Childrens to open up a PFIC clinic and research lab. See story here (I should note, this family donated money independently, but PFIC Network has been invited to collaborate with CCHMC as they build their program).
3) PFIC Italia Network raised and donated €55,000 to the University of Innsbruck, Dr. George Vogel, to support his research in PFIC 1.
I need to take a quick moment to highlight the work of the PFIC Italia Network. This organization, led by Francesca Lombardozzi, a dear friend of mine, is passionate about finding a cure for PFIC 1. Their mission and purpose is to raise money to support research specifically in PFIC 1. They have been raising money in Italy and throughout Europe for the last 2 years for this purpose, but they struggled to find researchers who were looking at PFIC 1. Francesca was devastated to learn that it was so difficult, but remained determined. Through the connections that we have in the PFIC Network, and after months of patience and waiting, we found someone together. The work of the PFIC Italia Network brings to light the extreme importance of working together to mobilize resources in support of the greater community, no matter what your passion is.
This type of international network has been working behind the scenes since before the PFIC Network was even born. We are excited that the strength of this network has led to these types of accomplishments. It is this story of community, connection, leadership and determination that inspires hope for a brighter future for the PFIC community. A quote that keeps me going:
“Between stimulus and response, there is a space. In that space lies our freedom and
power to choose our response. In our response lies our growth and freedom.”
-Viktor Frankl
The PFIC Network will be officially launching the PFIC International Alliance in the first part of 2022, please stay tuned:)