1. Could you talk about what you discussed during your February 21st appearance on WGBH’s Under the Radar hosted by Callie Crossley?
The segment was all about Rare Disease Day 2017. It’s always the last day of February, which is the 28th this year. I was able to share my experience of living with a rare disorder, Pyknodysostosis. It’s an enzyme deficiency that causes dwarfism and brittle bones. I had the opportunity to discuss the impact it has on my life, such as limiting what physical activities I am able to do. I also touched upon the fact that I am among the lucky minority of young people living with a rare genetic disorder that received a correct diagnosis at birth. My condition is very rare and has been misdiagnosed in others. I was lucky thanks in part to a random happenstance of an amazing geneticist walking past my mom and older brother (who lives with PYKD) in the hospital. At the time my brother was 9 months old and my mother was pregnant with me. The geneticist pulled my mom aside talked to her about the traits he saw in my brother and we had the answer. I was born 9 months later with the same characteristics. During my appearance on “Under The Radar” I was also able to discuss the importance of providing a community for these young individuals. Social media has brought new opportunities for those with rare disorders to find a community and support, and even sometimes answers. For most of our lives we are a statistic of 1 in 200,000 or more, but when we find each other we don’t feel so alone.
2. What should teens and young adults expect when they tune into the “Have You Ever?” podcast?
It’s about advocacy, conversations and building connections with people who often feel alone, and listeners can learn effective life skills that will really help them during their journey. “Have you Ever?” is going to be an amazing tool in connecting teens and young adults in our communities and beyond. I will host the program with Kimberly, Director of Clinical Arts at Next Step. This podcast will shed light on what it’s like to be a teen or young adult living with different diagnoses. We will focus on topics that need or want to be discussed by teens and young adults living with chronic life-threatening illnesses. Through our Next Step programs we are great at providing an environment to have these much-needed conversations but with the “Have You Ever?” podcast we will have an effective tool to engage with a much larger, broader audience through an online forum that is relied on by young people and is culturally relevant to them.
3. Where can young people access the podcast?
It will be available on iTunes and our website, with the hopes to expand to other outlets where podcasts are available. We will make an announcement on the Next Step social media pages and website when the first podcast is uploaded.
4. This year, the slogan for Rare Disease Day is “with research, possibilities are limitless.” While the mission of Next Step is not focused on research, how is Next Step unique in how it supports and empowers young people living with a rare disease, a group who often struggles to find peers living with similar medical conditions, to see beyond their limitations and plan for their future?
Next Step has that “secret sauce” of being able to provide an environment where we feel safe and accepted which then leads to the ability to build community and long lasting, trusted bonds. Once the community has been established we then build on it by engaging them, educating them as well as them educating each other, and us; and finally find a sense of agency and empowerment to reach for their goals. Ultimately, their limitations are shattered so they can elevate their aspirations.
5. As a young person living with a rare genetic disorder, what advice would you give to a peer living with a similar medical condition who is thinking about attending a 2017 Next Step Summer Campference?
It really is as amazing as we say it is. Having a rare disorder can make you feel alone, but at our Summer Campference you’re not. Other participants may not have the same diagnosis, but they do share common obstacles personally, in relationships or in their career. It’s one extended weekend that just might change you’re life. Why not try it? Email me if you want to learn more!