Join Firefly Fund founders Pam and Chris Andrews as they share about their own personal rare disease journey that led them to the creation of Firefly Fund, as well as what you can expect from the monthly Firefly Chat. The purpose of Firefly Chat is to provide a platform for all NPC Community and industry stakeholders to share and air their views to bring together the whole NPC Community, while also shining a light on the collective dedication and commitment to NPC patients.

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Pam:

Our involvement in rare disease is not something that was planned or strategic in any way, but unfortunately for us, something that was born out of the diagnosis of both of our daughters with a rare disease, Niemann-Pick Type C (NPC), in March of 2016. My older daughter was diagnosed eight days shy of turning 6 years old following the onset of symptoms that took us nearly two years to properly diagnose. And Abby, our baby, was immediately screened  and diagnosed thereafter at 18 months old — before any visible signs or symptoms of the disease. 

The years leading up to Belle’s diagnosis are some of the most painful years for me to relive, and unfortunately something that I believe is all too common among NPC and probably all rare disease families. Belle was born with a swollen spleen that the doctors discovered during her two-week well-baby visit and looked into with a series of blood tests. The results came back that Belle didn’t have cancer at 2 weeks old. As new parents, you can imagine that Chris and I were quite relieved that our 2-week-old baby didn’t have cancer, and as the months and years flew by, Chris and I really just soaked in the joy and wonder of being new parents. Clinically, Belle met all of her milestones, and she stole the hearts of everybody that met her. She has a heart that is larger than life, and she’s hilarious and has a beautiful smile and an unforgettable laugh, and we really just relished in that, in those early years of her life.

My intuition as her mom was that there was something going on that I couldn’t really put my finger on. Maybe it was the low platelets or the swollen spleen that lingered in the back of my mind from those early tests that they did when she was two weeks old. Or maybe it was later when she was 2.5 and she developed a tremor. We took her to meet with an endocrinologist because we thought possibly she could have hypoglycemia. We were trying to figure out what was causing the tremors. 

In May of 2013, shortly after Belle turned 3 years old, Belle’s preschool teacher emailed me and said that she was concerned that Belle might have hip dysplasia and encouraged us to look into her seemingly awkward gate at the time. As a first-time mom, I was actually a little offended that someone thought my daughter’s gate was awkward. I actually thought it was adorable and, you know, perfect. We took Belle at the time to see a pediatric orthopedic specialist, and he confirmed that Belle didn’t have hip dysplasia and suggested that if we had further concerns to go see a neurologist. Really, I was scared to death. I mean, I remember getting in the car after that appointment when Belle was 3.5 years old and I remember thinking, “What in the world would we go see a neurologist for?”

Nonetheless, we made the appointment and the soonest we could get in was eight months later. Then in the Fall of 2013, when Belle was back in preschool, Chris and I learned that we were pregnant with our other daughter, Abigail Mae. We were overjoyed to be adding to our family, of course, and while we prepared for Belle’s neurology appointment, we decided to look for a physical therapist for Belle. We wanted to see if PT could help with some of her “clumsiness.” I would go with Belle to PT two to three times a week, and over time, I began to obsess about her awkward gate and her slurred speech and her scratchy handwriting and her inability to regulate her emotions. In the back of my mind, you know, there was always the swollen spleen. 

The doctor began telling us that this just must be her normal. She always fell within the normal limits. PT led to speech therapy, which also led to OT, and then vision therapy. In those eight months we went from one therapy to four therapies, and they flew by. Then, in April of 2014, we took Belle to see a pediatric neurologist and they did an MRI for Belle and a comprehensive pediatric neurology exam and they ruled out many things including a brain tumor, Friedreich’s ataxia, and several different forms of muscular dystrophy. We were thrilled, obviously. We were relieved, we were thrilled that Belle’s tests came back normal.

A few months later in June of 2014, when Abby was born two months premature, we really at that point had our plates full. The summer of 2014 was spent tending to Abby in the NICU and Belle stayed busy with different swimming lessons, and camps, and her different therapies. Two thousand and fourteen flew by, and by March of 2015 when we took the girls for their annual well-child visit, it was Belle’s 5-year well-child visit and Abby’s 9-month well-check up, the girls paediatrician at the time was not in the office. We saw one of his other doctors there in the office — a young medical student right out of medical school and the mom to two young children. She felt Belle’s spleen at the time, and took one look at me, and it’s not actually what she said, but what she didn’t say that shook me that day. She asked me if we would consider genetic testing, and we left the appointment with a referral to see a metabolic geneticist as soon as possible. 

Looking back, I don’t even think I really understood what to be scared of. I called the geneticist’s office to make the appointment and it took us six months to get in. The day before Thanksgiving in 2015, Belle and Chris and I went in for genetic testing and they drew over 10 vials of blood and we spent the morning meeting genetic counselors, and we signed hundreds of pages of documents. Overwhelmed and not really sure what was going on, we proceeded through the day, and the next day tried to put it all out of our minds so that we could enjoy Thanksgiving with our family. It was like a scene from a horror movie is all I remember. 

We left that appointment that day and we were told that the results would be in within six to eight months. We were told to go home and put it out of our minds, and we did. What happened on March 9, 2016 was that the doctor’s office called and said they wanted to meet with us the next morning, and that the doctor had cleared his calendar for us to come in, and bring somebody with us that could also watch Belle while he visited with us. So we prepared for a really big day, and a day that turned out to be a turning point in our lives. March 10, 2016 was the day that the doctor diagnosed Belle with Niemann Pick-Type C and told us that she would die within two years. He went on to describe what the decline would look like, and explained to us that our precious and perfect daughter would lose the ability to walk, to talk, to swallow and that seizures and cataplexia are common. He handed us a piece of paper with information for the Make-A-Wish Foundation, and sent us on our way.

Before we left the appointment, he turned back and said, “You might want to test your other daughter right away — be sure you make an appointment before you leave.” So we did, and then our pain more than doubled when the results came back that our baby had the same disease.

In the days and weeks following Belle and Abby’s diagnosis, my husband and I made one single important decision which has proven to be the most significant and life-changing decision that we’ve made during our NPC journey, and that was the creation of Firefly Fund. Everything that we do and everything that we will do for the rest of our lives, will be to nurture and support and continue to grow Firefly Fund. It has become like our third child, and it is something that we are committed to. It is the breath that we breathe, the air that we breathe. It is part of our lives, and something that we are very committed to. We don’t have control over the fact that both of our children have NPC, but we do have control over what we choose to do about it. Firefly Fund is the vessel for which we will continue to fight and work for the NPC community, and honor our daughters who have been given this life with Niemann-Pick Type C. It is our honor to them, and our commitment to them, to do everything we can for the Niemann-Pick Type C community. So that is how we became involved in rare disease. It’s not something that was strategic, it’s not something that was planned, and it’s not something that we ever set out to do. It was a life circumstance, and it’s become part of the fabric of our life. It’s our life’s calling, if you will. 

Host: Thank you so much for sharing your family’s story, as well as the story of how you and Chris came to establish Firefly Fund. What exactly is the mission that Firefly Fund is founded on?

Pam:

Firefly Fund’s mission is to fund and support the research and education necessary to accelerate a cure for rare, neurogenetic diseases that affect children and have no cure.

Chris:

Pam and I have this vision of someday, there’s gonna be a family with a child sitting in the hospital room, and a doctor will walk into that hospital room and tell those parents, “We have some news, we don’t want you to be upset, because of newborn screening, we’ve found out that your child has a rare disease called Niemann-pick Type C 1, but it’s OK, we have the cure.” That’s the vision, and that’s the mission that we have to someday reach that point. That is, in a nutshell, the true mission of Firefly Fund. 

Host: Can you tell listeners a bit about your organization’s strategy in working toward that mission?

Pam:

Sure, I’d be happy to. Firefly Fund’s strategy is something that Chris and I have actually spent a lot of time thinking about, with a lot of input from our board of directors, and something that we have tried from the beginning to be very strategic, as an organization with limited and precious resources, coupled with really wanting to make a meaningful impact for Belle and Abby and the NPC community, we’ve spent a good amount of time thinking about, and developing and, implementing our strategy.

One of the things that is sort of the hallmark of Firefly Fund is that we are committed to focusing on filling unmet needs in the community, and not duplicating a lot of good work that has already been done. We learned that there were other patient inspired family foundations around the country focused on Niemann-Pick Type C, and we were really grateful to learn not only that these organizations existed, but that they have been focused on doing some pretty meaningful and important work over the last 25 years. We made a commitment then, and it’s something we’ve really stuck by, to not duplicate the good work that has already been done, and to working with the other foundations to make sure that we move together in a coordinated manner towards a goal that we all share which is moving NPC into a new and different public health paradigm. 

Host: I know your core programs are designed to implement Firefly Fund’s strategy and drive your mission. Can you provide more detail about what firefly fund’s core programs are 

Pam: 

Chris and I have identified three core programs of focus for Firefly Fund. Our first program is focused on funding medical research related to translational science, and what that means is that we’re focused on moving compounds out of academic labs and into the clinic as quickly as possible, and we do that by making the animal model work available to scientists around the world, and by allowing that to happen through our funded research. So we are focused on moving compounds and potential therapies from academic labs into the clinic as quickly as possible by making the animal work and the cats, and the mice available to scientists.

Our second program is newborn screening for NPC, a program that really was born out of our own understanding through the reality that we lived in in our house everyday by watching the differences in our daughters — because of one daughter being diagnosed early and another daughter being diagnosed symptomatically later. We decided early to take on newborn screening, so our second program is newborn screening for NPC, and we’ve convened a national multidisciplinary working group that is representative of community and industry stakeholders around the world who share common a vision, and that is to add NPC to state and federal newborn screening lists. So the NPC Newborn Screening Program and Initiative that Firefly convened in June of 2017 is our second program, and something that I work on every day and I’m very proud of. 

Our third program is the development of a Patient Access Fund. All too often Chris and I get calls from families across the United States — really, all around the world — because they can’t access the care they need for their loved ones with NPC. Thanks to the support of our partners and donors, Firefly Fund’s patient access fund is supporting three different centers of excellence with grants that allow families to travel and get care they need and our hope is to be able to do that more and more. This year we’ve also given a grant to a patient advocacy organization to support a hardship program for NPC families. Chris and I are really committed to the patient access fund because without the support from our community here at home, we wouldn’t have been able to travel back and forth to Chicago every other week with two young children to get the care we need, so we want to make sure that that support is given to the other families diagnosed with NPC. We know that there’s a huge need out there for access to care. 

Host: Thank you for providing such in-depth insight into Firefly Fund’s programs. I’d love to hear about how the programs have already made an impact. Can you share about any key accomplishments of Firefly Fund?

Pam:

Thank you for the question, I’m not sure that I would say that these are necessarily accomplishments. But rather, things that come to mind as sort of the bright spots, or the things that I am proud of. When I think about what we’ve done since our inaugural event in March of 2017, certainly one of the components to our success in the last three years, we just celebrated our third anniversary on February 28 of this year, and so we’re a new organization, and I think one of the components to our success to date — really it has nothing to do with Chris and I or anything we’ve set out to do — but really, something that we’ve been just as surprised about as maybe anybody else and that has to do with the veracity and the complete dedication that our community and supporters have shown to not just Belle and Abby but to the creation of Firefly Fund from the beginning. 

Chris and I live in a community that loves together, and fights together and really holds and lifts each other up, and we are seeing that now first hand with regards to Belle and Abby’s diagnosis and we’re living quite honestly again in real time as we all live through the horrors of the pandemic that we’re facing. So I think that it isn’t necessarily an accomplishment, but rather something that has just really magically happened and something that we are very proud of. It’s been quite something to be a part of from the beginning of creating Firefly Fund. 

I think another thing that I want to say that I am proud of when thinking about Firefly is this really came to us very organically after the diagnosis of both of our daughters — we’ve been living sort of this reality of the difference in early intervention and diagnosis in both of our girls. The difference in the trajectory of Abby’s life, because of her early diagnosis and intervention, versus the symptomatic diagnosis and intervention for our older daughter Belle. Living through that reality, it really ignited this passion for newborn screening, and as somebody who’s been a part of our public health system both at the federal and state level, I’ve always understood the importance of newborn screening, but living now this reality and seeing the reality in the girls and the difference in their live because NPC is not on the newborns screening list, and we didn’t have the opportunity to know early and diagnose and intervene early in our older daughter because NPC is not on the list, it really ignited this passion in me that I believe newborn screening is going to be a big part of the puzzle for the NPC community. When I look back on the last three years and I think about the work that we’ve done, and what I am proud of, I am proud of our early identification of the need for newborn screening in the community and our commitment and really ability to hang in there year after year, and really follow through with bringing newborn screening to a reality for the NPC community.

We’re about to launch a pilot study in New York where we’re going to be screening babies for the first time ever in history — ever in the history of the world — screening newborns for NPC at birth and that is a very exciting thing. We will learn a lot about the disease, the incidence and prevalence of NPC. It will be able to help guide a lot of things we do in the future as it relates to clinical trials and development of therapies for NPC, and I’m very excited to get that pilot study underway. So yeah, those are the things that I am proud of with Firefly Fund. 

Host: I couldn’t help but notice that you touched quite a bit on newborn screening. Why is newborn screening so essential for rare disease families? Particularly those dealing with NPC?

Pam:

As a mom, I want to say that, you know, Firefly’s commitment to newborn screening really was born out of Chris and I witnessing on a daily basis with our daughters the difference in the trajectory of their lives because of our younger daughter’s early diagnosis and early intervention after her older sister’s very symptomatic diagnosis and intervention. The difference in their lives is not only different today, but the trajectory of their lives is looking like it’s going to be very different because we have the benefit of knowing early and intervening earlier with our younger daughter. As painful as the reality is to get a diagnosis like Niemann-Pick Type C at birth, my hope for every family that has a baby born with NPC is that they have the benefit of knowing early so that they can intervene early. The purpose of newborn screening is to improve health outcomes for children born with rare disease and the NPC community is deserving of improved health outcomes just like the cystic fibrosis groups, and just like PKU, and any other rare disease community. Newborn screening is a public health program that was designed, and developed, and implemented with the goal of improving health outcomes for children and babies born with rare disease. I believe that Niemann-Pick Type C children and babies are just as worthy of those improved health outcomes as any other baby. 

Host: It sounds like Firefly Fund has already made quite a significant impact on the NPC community. What is on the horizon for next year?

Pam:

We’re a young organization. We are in our third year of existence and we just celebrated our third anniversary on World Rare Disease Day. Strategically, we’re really committed to building upon the three core programs that we identified after we launched Firefly Fund: our Patient Access Fund, our Newborn Screening Programs, and our medical research. We’re excited to begin screening babies in the pilot study that launched in 2019 in New York, and that will last for five years, so that’s one thing that’s on the horizon for this year. We’re hopeful that will start this fall. 

Due to the historic nature of the study, we’re going to be learning a lot of new and critical information about the incidence and prevalence of NPC. We’re going to be busy. I think that we’ll be building on our commitment to the Patient Access Fund. One thing that you’ll hear me and Chris both talk about is the complexities of moving a disease that is basically unheard of, and undiagnosed, and generally unrecognized by our community, by our society, into our existing public health infrastructure. Firefly funds three core programs are really designed at their core to accelerate our ability to move NPC into the public health system, and this is the focus of what we’re doing this year, and next year, and all of the years after that. Every year, until we’ve moved the mountain, so to speak. 

Host: Thank you for sharing, Pam. It sounds like there’s so much to look forward to this year! I know the Firefly Chat podcast is new this year, as well. Can you share the inspiration behind launching a rare disease podcast?

Pam:

Several times this year when listening to my husband either talk on the phone, or relay conversations to me about conversations he’s had with stakeholders — a lot of scientists or researchers, you know different people in the NPC community, different stakeholders — when I listen to him I keep thinking to myself, “Gosh, I wish other people could hear these conversations that you’re having, and not just me,” so really, the idea of the podcast was inspired by me by wanting to make available the information that I know that we learn through talking to so many different stakeholders in the rease disease community — wanting to make this information available to families across the globe.

Chris:

After we were diagnosed, I dove into research on NPC obsessively and I knew right after we were diagnosed we were three months away from the NORD conference in Tucson. I couldn’t wait to get to the conference, I couldn’t wait to meet the people that were working on this disease. I got to Tucson, I was so excited and I walked into the conference room and I saw 50 scientists that were all working on NPC, that were all dedicated to treating our daughters, and it made it very real for me because there were actual, real, live people out there that were working on this disease and were trying to find a cure. You know, the podcast is kind of a way to introduce people who can’t go to those conferences to the scientists that work on this disease, and the CEOs — what motivates them and what inspires them to be involved in the 

NPC community, and also to introduce the community to other families and learn their stories. We’re hoping that it will make it real to everybody out there who has been diagnosed for a long time or who’s newly diagnosed, that there are people out there that are working, that care about them, and that care about their family.

Host: What an incredible way to bring the community together. What can listeners expect when they tune in every month?

Pam:

My hope and my intention is that you’ll hear open and honest conversations with the NPC heroes, and my hope is that you’ll get to hear from the people on the front lines — the people that are really working on NPC day to day, day in and day out — that are dedicating their careers and their lives to our children. It’s the engine that has kept Chris and I going over the last four years, and it’s something that we look forward to making available to families with NPC across the globe.

Chris:

The idea is for you to actually get to meet those people on the front lines so that they aren’t nameless faces, but real people with real motivations that are here to help all of us, and we hope to make that something that everybody in our community can understand and know.