Megan Manotti, BSN, RN, OCN

Her clinical background in oncology nursing particularly patient advocacy, patient education, leadership and maintaining calm in high-stress clinical situations and close collaboration with families and researchers.

I think one of the biggest things that I would tell newly diagnosed families is that they're not alone. I know during our diagnostic journey, the diagnosis was difficult, but the isolation made it almost feel like it was impossible to get through. So I think telling newly diagnosed families you are not alone, and we now have this very active foundation and researchers and physicians who are interested in supporting our families and helping our kids. I would say family first and compassion would be something kind of protecting and supporting the kids and families, kind of meeting people where they are and making sure that they're being seen and supported. I would say collaboration and community building, so kind of that bringing together of families, clinicians, and researchers, and keeping everybody aligned. Doing things ethically and with integrity, making sure that we're kind of doing it the right way, and also being transparent with all of the people who are involved about where we are and what the expectations are.

I think one of the big challenges, especially in the ultra-rare disease space, is building a sustainable and fundable infrastructure without slowing down kind of urgent progress. For us in the Primrose community, it often feels like a race against time before a lot of these neurodegenerative progression symptoms progress, so building just a very credible and impactful system while still maintaining the momentum. I would say other big challenges are just the fact that there is limited research. Our patient population is somewhat limited, or kind of low in numbers. We don't really know what the patient population is, but our patient population that we have connected is global, so that can certainly have a challenge in terms of being able to make sure that we're connecting everybody. There's just a lot of fragmented information. And certainly, building this as a parent, kind of patient-led advocacy group, funding is definitely limited, and we're sort of bringing all of that, you know, it's up to us as parents to raise these millions of dollars that are needed for drug development research. And then other challenges are just the fact that while we're doing this and while I'm kind of building this company and doing this, I'm still working as a nurse and taking care of three kids. Logan has about 17, 18 specialists that he follows with, so we have to get him to all of those appointments. He's in physical therapy twice a week, speech therapy every week, he wears hearing aids. So just finding the time to do all of this while doing everything else is also certainly a huge challenge. Our big opportunities are going to be by directing research, hopefully being able to have some therapeutic outcomes so that we can actually treat some of the symptoms that these kids are going through. But even before we get there, just being able to provide education, resources, and supports to families is a huge opportunity.

I would say family first and compassion would be something kind of protecting and supporting the kids and families, kind of meeting people where they are and making sure that they're being seen and supported. I would say collaboration and community building, so kind of that bringing together of families, clinicians, and researchers, and keeping everybody aligned. I would say doing things ethically and with integrity, making sure that we're kind of doing it the right way, and also being transparent with all of the people who are involved about where we are and what the expectations are. And I would say also just gratitude for everybody. I am so grateful for the people who have helped to give in support, to allow us to allow me to build this organization so quickly, and to all of the other parents who have been there with me, both building this organization, but also just for the late night talks and tears and laughs and support and sharing their children's stories with us.