As professional communicators, it should come as no surprise that we like to talk. We also know how important it is to listen; it’s so important, in fact, that it’s one of our core values. SmithSolve is intentional about creating opportunities to listen to and learn from members of the rare disease communities we support. Recently, we brought together three incredible rare disease advocates for a company-wide panel discussion and Q&A. Effie Parks, the host of the Once Upon a Gene Podcast and Community Engagement Coordinator at Global Genes, moderated a discussion with Adam Johnson, the Rare Disease Dad and ‘DadVocate’, and Nikki McIntosh, founder of Rare Mamas.
Effie’s son, Ford, was diagnosed with CTNNB1 syndrome, a rare genetic condition. CTNNB1 syndrome is a neurological condition caused by a deletion, partial deletion, or mutation of the CTNNB1 gene that causes symptoms ranging from mild developmental delays to severe physical and intellectual disabilities.
Adam Johnson is a dad, advocate, and member of the rare disease community living with mitochondrial myopathy, a condition with symptoms that include loss of muscle coordination, muscle weakness and pain, seizures, vision and/or hearing loss, among others. Adam runs the DadVocate blog and the “Parents as Rare” series of the Energy In Action podcast.
Nikki McIntosh is the founder of Rare Mamas®, a resource, podcast, and community to support rare disease moms. She founded Rare Mamas after going through her experience with her youngest son, Miles, who was diagnosed with spinal muscular atrophy (SMA) at eighteen months old.
During our time with the advocates, we heard about their journeys to diagnosis and the trials and tribulations they each faced navigating life with a rare condition. “The diagnosis was like a car crash. Everything was happening in slow motion around me,” Effie recounted at the beginning of the panel as the other speakers nodded in agreement. Effie has a knack for speaking in beautiful metaphors that paint a vivid picture. She described her experiences during the early diagnosis days and how she tried her best to keep moving each day. “Ford wasn’t meeting his milestones. I had to take him to five to seven appointments every week for the first couple years of his life. I wasn’t at the park with the other moms, I wasn’t updating my social media. I wasn’t connected to my old world at all. I was out on this tiny little rock, drowning in appointments, paperwork, anxiety, and grief.”
Adam recounted his own experience, sharing how the diagnostic odyssey is not linear. “It’s this crazy path that goes all over the place. A couple of people, who I traveled long distances to see, told me it was all in my head. That was soul-crushing. I was already feeling like a failure as a person, as a dad, as a co-worker. I spiraled quite a bit at those points.” Adam recalled how he felt like he was the only one out there in his situation. As an educator, Adam has a fondness for information sharing, which was partly why he started the DadVocate blog and the “Parents as Rare” podcast series as ways to continue to educate others and build a community. Adam called attention to the importance of the mental health aspect of living with a rare disease as he described his initial experience with seeking treatment for his mental health. “I took the prescription I was given and shoved the [therapist’s] card away in the corner. I knew it was there. I thought, ‘maybe I’ll peek, maybe I’ll dial the number, but I’m not going to call it.’ Thankfully I finally did jump in and go for it. I still have a session once a week to focus on my mental health.”
Nikki shared powerful sentiments about inclusion, both at the family level, amongst siblings, and within the broader rare community and industry. “It’s given me a helpful perspective to have an older son [who does not have a rare condition]. You’re wrestling with these two worlds, trying to give them both typical childhood experiences. Kids are smart and want to include each other, and it’s always this constant dance to figure out how to answer the difficult questions and promote inclusion.” When the SmithSolve team asked the advocates about best practices for engaging with members of the community, Nikki emphasized the importance of trust, inclusion, and strong relationships between the community and industry. “I was very skeptical of the pharma industry at first, but I got the chance to meet with companies researching SMA and build those relationships. I realized they were going to our conferences, they were meeting our kids, and they’re reporting insights from the community back to their research teams. The scientists were putting faces to names and going to work each day thinking about our kids, and that’s what was driving them.”
This chance for the SmithSolve team to listen and learn from these three advocates underscored the importance of our work in keeping patients and their families top of mind in drug development and building strong relationships between industry and rare communities to advance rare disease research. Drawing from the vastly unique experiences of these three advocates, we gained an appreciation for the journey individuals embark on to become advocates, the immense strength it takes to become an advocate for yourself, a family member, or an entire community, the essential need for finding or building a community, and the importance of participating in dialogue such as this as informed listeners.
The SmithSolve team left the discussion feeling empowered, inspired by, and thankful for the stories we heard. As an agency, we know it’s important to honor advocates’ choice by actively creating an atmosphere where all participants are comfortable to share their perspectives. This helps us to properly listen and learn from what they share with us. Interactions like this are an important reminder of why we do what we do each day, and why it’s crucial to attend conversations like this as informed participants who are asking the right questions.
To learn more about these amazing advocates, visit them online via the links below:
- Effie Parks, Once Upon a Gene Podcast: https://effieparks.com/
- Adam Johnson, DadVocate: https://rarediseasedad.com/
- Nikki McIntosh, Rare Mamas: https://raremamas.com/