Rare Leader: Stacy Pike-Langenfeld, Co-Founder and President, KrabbeConnect

The Basics
Name: Stacy Pike-Langenfeld

Title: Co-founder and president

Organization: KrabbeConnect

Social Media Links:

Disease focus: Krabbe disease (pronounced krab A), is a rare genetic disorder, also known as globoid cell leukodystrophy. Krabbe disease is described as a severe neurological condition that results from the loss of the protective covering (myelin sheath) surrounding nerve cells. This protective myelin sheath is essential to insulate the nerves and ensure the rapid transmission of nerve signals throughout the body. Krabbe disease is classified as both a leukodystrophy and a lysosomal storage disorder. Leukodystrophies result from degeneration of the white matter in the brain. Lysosomal storage disorders result from an enzyme deficiency in the lysosome of the cell. The lysosome is also known as the recycling center of the cell and when there is a missing or deficient enzyme, like in Krabbe disease, the body is unable to breakdown certain substances, and they accumulate. Individuals affected by Krabbe disease do not make enough of a specific lysosomal enzyme called galactocerebrosidase. This enzyme deficiency is due to a genetic change in the galactosylceramidase gene. As a result of the deficient enzyme, complex fatty substances are unable to be broken down and their storage causes the pathologic changes, most notably the formation of globoid cells and loss of myelin of the protective coating/covering surrounding the nerves. The myelin-covered nerve fibers are known as the white matter of the brain. Krabbe disease slowly damages the white matter, as well as the rest of the central nervous system and the peripheral nervous system.

Headquarters: Rosemount, Minnesota

How did you become involved in rare disease: I was inspired to help in the disease space by my daughter, Makayla, who was diagnosed with Krabbe disease at the age of three and a half months old in 2001. She passed away in 2003. I was also fortunate to gain more than 10 years of experience in the medical and pharmaceutical industry. I spent time at Medco and Novo Nordisk, working in the rare disease space of hemophilia. My roles involved increasing patient awareness, maximizing growth opportunities for hemophilia products, and educating the community on support services. I now use this experience to guide the mission and research efforts in Krabbe disease.

Previous career: Patient advocacy and support in rare diseases within the specialty pharmacy and pharmaceutical arena.

Education: A.S. in occupational therapy/therapist from Riverland Community College, B.A. Sociology from the University of Minnesota-Twin Cities with a minor in Criminal Law.

The Organization
Organization’s mandate: Our mandate is to fill gaps in research and to be a conduit to help bring everyone together, ensuring that the patient’s voice is heard and new therapies coming in the pipeline will actually improve the lives of patients in a meaningful and impactful way that both parents and patients value.

Organization’s strategy: Our strategy is to be a partner. We are not the only voice in this space. We recognize that there are other organizations doing work and we enjoy partnership. We think everyone provides value and insight into navigating this disease space. However, anyone who can help makes us stronger. Although we’re a strong non-profit organization, there are people out there—even individual caregivers who are navigating newborn screening on their own in their own state and advocating. We recognize those efforts. We do reach out to them to see how we can help, but we never interfere with people’s work. We want to strengthen it in any way, shape, or form we can. That’s how we feel like we can fill gaps and bring a stronger voice to patients in this space.

Funding strategy: We work a lot with people who are doing work in the Krabbe disease space. We have specific entities that are devoting their time to Krabbe disease. We reach out to them for partnership funding. We have applied for grants. We haven’t been overly successful in the grant space yet, there are a lot of small, rare disease non-profit organizations competing for those same grants.

Our main focus is funding from pharma and funding from individuals who follow us along this journey. We also have a program that I developed. I felt that we were leaving the caregivers who have gone through this disease untapped in the sense that when you are touched by a condition because you’ve lived it, because you’ve cared for someone in some way shape or form, those people have a network of people that they connect with and are supported by. We have a “Partner with Us” program where families can utilize our non-profit platform to open a fund. They get to name the fund and then they do their own fundraising. Those funds go directly into that fund to help sustain the organization in a meaningful, impactful way to them as well. It still has to go towards our mission at work, but they’re able to say, “We want that funding to go to your patient assistance programs.” That allows them to feel as though they have made a difference and allows them to channel their energy into something meaningful, impactful in the memory of the loved one that they either cared for, or lost, or were impacted by. It also helps sustain our organization because the strongest advocates are always going to be your caregivers and your patients.

What’s changing at your organization in the next year: We will remain a completely volunteer organization. Right now, we have no paid staff. Yet, we have become increasingly aware that the needs in the space will require a full-time executive director.

Management Style
Management philosophy: We are very thoughtful and mindful about how we approach things. We try to fill gaps in research but not duplicate efforts. We also want individuals on the board not only impacted by the disease, but those not impacted by the disease because they bring in a new frame of reference. We manage the organization to have a diverse board that’s able to utilize their talents and experience to ensure our organization remains strong.

Guiding principles for running an effective organization: I put trust in the individuals we bring onto the board to ensure oversight and that we are utilizing our funding and resources to the best of our abilities. To minimize administrative costs, we value the time and talents of our board members, and we are upfront about the time commitment. We ensure that our board members can have 10 to 12 hours a month dedicated to ensuring the success of the organization and using their talents to strengthen it. And then there’s integrity. We are mindful about how we approach things because a pharma company may want us to do something that might not be in the best interest of our community and our population. We think about the impact it has on the patients and the caregivers. We don’t want to put more burden on them than there already is, as many of them are caring for a medically fragile individual in their home.

Best way to keep your organization relevant: The best way to keep the organization relevant is to have ongoing conversations with those impacted by the disease. If we’re not making changes in the lives of those living with the disease today, then we need to either change our framework or change how we’re doing stuff in the organization so that we can make an impact on families. It’s also important to be looking for the next way of individuals to lead the organization. I don’t believe leaving the same leadership in place for a significant amount of time is healthy. Change is good. New ideas and new leadership will keep the organization propelling forward.

Why people like working with you: I appreciate their talents and their expertise. I am good about saying when I don’t know something and not afraid of reaching out to someone who holds more knowledge and expertise than I do. I don’t always assume that I have all the information or know all of the answers. I am only as strong as the people who are supporting KrabbeConnect as a whole. Ensuring that each board member has a voice as much as I do, I believe, makes people gravitate towards me. Our board members have reported feeling validated and important.

Mentor: My mom and dad are my mentors. KrabbeConnect is a product of The Legacy of Angels Foundation. The Legacy of Angels Foundation was founded in 2008 as a private family giving foundation by Paul and the-late Sue Rosenau, my parents.  Their mission is to advance research around cystic fibrosis, Krabbe disease, and newborn screening. The organization’s main focus is advancing research. My parents were two individuals thrown into the rare disease space as a result of a very sick grandchild. Their support never wavered. When Makayla passed away, she was never forgotten. They always ensured that her life was purposeful and meaningful. The organization came to fruition as a result of The Powerball announcement on May 4, 2008, which coincided with the fifth anniversary of Makayla’s passing. Makayla lost her battle to Krabbe disease at the age of two. After my parents talked about the disease during a Minnesota Lottery news conference, Krabbe disease became the day’s most Googled word. A majority of the lottery funds went into The Legacy of Angels Foundation and to-date they’ve, given more than $15 million to advance research in Krabbe disease. It was incredible how my parents organized a successful foundation. It just goes to show that passion can really be a powerful tool as my dad’s experience was that of a construction foreman and my mom’s was that of a secretary at the U of MN. Although my mom was the bigger force behind the foundation, both of my parents built it up to flourish so one day new therapies would be available for families impacted by this disease. Now Forge Biologics, Passage Bio, and Neurogene are all looking at therapies for Krabbe disease. Unfortunately, my mom encountered health situations of her own. In 2015, she had stage three ovarian and stage four endometrial cancer. She passed away in 2018 at the end of July. To this day, I am in awe of my parents’ strength and perseverance.

On the Job
What inspires you: The patients that we continue to see impacted by this disease inspire me. It’s not just about Makayla. She’s an inspiration and I wish she had a different journey, but she didn’t. She was here for a reason and for a purpose, but my focus is for the patients of today and those that will be diagnosed in the future. I want patients to be able to live a life free of Krabbe disease.

What makes you hopeful: I’ll never forget the life I spent with Makayla. What make me hopeful is that there are individuals and family members like me who are willing to keep working for families to have better access to new treatments and therapies, and that we do have three pharmaceutical companies interested in bringing a therapy to the bedside of patients. Yet, we still have a long way to go. We’re thrilled to have new opportunities through clinical trials yet, clinical trials can last for years, and success is not guaranteed. At this time, we work to manage our organization’s expectations and help inform our family and caregivers on all expectations of these clinical trials. Families and/or patients deserve to know all the information. When clinical trials come to the forefront, it takes time for patients to enroll. It takes time for safety and efficacy data to be available. Yet, I and many others, are hopeful these new therapies will bring added value and an enhanced quality of live that our community will be forever grateful for.

Best organization decision: To conduct a patient-focused drug development meeting (PFDD), which occurred in October of 2020. There are other nonprofit organizations doing work in this space. One of them is Hunter’s Hope and another one is The United Leukodystrophy Foundation. We utilized the National Organization for Rare Disorders as a conduit to bring us all together. The PFDD meeting was our brainchild, but we wanted to ensure the success of it. We wanted to ensure that everyone came together for it, and that this was the voice of a combined effort of all the organizations involved. That did happen and it went amazingly well. The PFDD provided an opportunity for patients and caregivers to share details about the impact of this disease on their daily lives and share their experiences with currently available treatments. This direct input of their personal perspectives, needs, experiences, and priorities are captured and meaningfully incorporated into drug development and evaluation by the U.S. Food and Drug Administration, researchers, medical product developers, and health care providers. As new drug applications are filed by drug developers, the comprehensive “Voice of the Patient” report generated after an EL-PFDD meeting is a critical resource for the FDA, in addition to mandatory safety and efficacy data, available on the FDA’s website.

Hardest lesson learned: To ask for help. I am only one person and I have a family that I love to spend time with. It’s important to have a good balance between work, family, and leisure activity. Some days you just have to say, “no, I am sorry, but I and/or KrabbeConnect can’t accommodate that at this time.”

Toughest organization decision: The toughest organization experience to date was the organization of an engagement study, KrabbeCURES (Community United Research and Engagement Study). KrabbeCURES, is a platform for patients around the world to share information about Krabbe disease. Its purpose is to build an international resource to be used by scientists in future research. These types of research platforms are time consuming, expensive, and difficult to manage, yet extremely important. KrabbeConnect evaluated several platforms over near 18 months and landed on NORD’s IAMRARE program. The information captured in this platform is reported by patient and/or caregivers impacted by Krabbe disease. This information is different than the clinical data reported from a natural history study. The FDA has expressed that patient experience data is important in regulatory decision-making.

Biggest missed opportunity: KrabbeConnect has accomplished a great deal in less than four years. We will be celebrating our fourth anniversary in February 2022. At this time, we have not witnessed a missed opportunity but I’m sure it’s only a matter of time before that occurs. When it does, I believe we will embrace it as an opportunity for growth and learning.

Like best about the job: I like seeing the progress that happens in the field. I love being able to connect with the researchers and understand the science, knowing how it’s changing, how it’s improving, and how it’s going to equate at the bedside of patients. I also like the other dynamics of energizing the board and other groups for us to work together. We are just one entity, and we are happy to be a part of a group effort to carry this disease to a cure.

Like least about the job: It’s time consuming doing all the social media posts, and everything is driven by social media nowadays. If you’re not consistently providing output in all of your different platforms, you lose your visibility and your followers. It’s hard to keep up with those marketing tasks when you lack a dedicated person on that front because we’re a small organization.

Pet peeve: Have the courtesy to provide an email back when you reach out for the ask. It’s hard to be on top of your work and align your development piece to ensure funding comes into the organization. But when you can’t get an answer back, or someone isn’t able to provide you with any answer, or facilitate an answer, that is a bit frustrating. There’s just so many different elements that go into finding funding for an organization.

First choice for a new career: I’m doing it. I’ve always wanted to have some way of helping this disease space move forward. I also know that if I remain president for longer than seven to 10 years, that this organization will become stagnant. I am always looking for the next person to fill my shoes, to take this organization to the next level, and build upon what we have initially instilled in this organization.

Personal Taste
Most influential book: Chasing My Cure: A Doctor’s Race to Turn Hope into Action; A Memoir by David Fajgenbaum

Favorite movie: Lorenzo’s Oil

Favorite music: I listen to everything. I grew up on country, which I still like.

Favorite food: I’m a girl who grew up on meat and potatoes. That’s how my parents raised us. We always had meat and potatoes on the table. I enjoy a good steak and baked potato.

Guilty pleasure: Ice cream

Favorite way to spend free time: I’m kind of a thrill seeker. I like to do lots of things. One of the things I want to check off the list is whitewater rafting. My husband is a little nervous to do that, but I enjoy life and I enjoy nature. Anytime that I can get out into nature and feel its presence around me makes me a better person and more focused in my work.