“Together we are family.” I LOVE connecting with other PURA families. All of our journeys are unique and different, and yet so similar. My husband and I flew up to New York City last week to show our support for a wonderful couple, Jean and Kyle. Their son, Jack, was diagnosed with PURA in January of this year. Jean and Kyle hosted an amazing and successful fundraiser at SoulCycle in West Village with all proceeds benefiting the PURA Syndrome Foundation.
Long after the fundraiser was over, I sat at a nearby bar talking with Jean about the joys and the struggles of raising a child with special needs and our hopes and dreams for the future. As we talked, I was reminded of my own experience after Taylor was diagnosed in January of 2018. After the initial impact of receiving an official diagnosis, I wanted to know how I could help. I wanted to find out as much as I could about the condition. I wanted to connect with other families. I wanted to raise awareness for a genetic condition so obscure, only 300 people are diagnosed to date. I wanted to do EVERYTHING I could to set Taylor up for success.
Some of that energy went into writing this blog, fundraising for the PURA Syndrome Foundation, joining the Board of the PURA Syndrome Foundation, and creating the Rare and Undiagnosed Network of Charlotte (RUNCharlotte) – a place where all families impacted by rare and undiagnosed conditions can meet, connect, and share resources. And yet somehow it doesn’t seem like enough. I want to do so much more….lobby in DC, partner with other rare disease organizations, advocate, raise social awareness, start a disability ministry at our church, register Taylor for hippotherapy, and the list could go on and on and on….
Taylor’s needs are great and the needs of our rare community even greater. The harsh reality is that I can do a lot, but I can not do everything…..I wish I could…..but, I can not take up every battle for Taylor and other children impacted by rare disease. I’ll always give what I can to this cause that is now my heart, but I don’t have the time, the energy, or the emotional stamina to do and be all things while also providing the best possible care for my child, maintaining the health of my own marriage, and working a full-time job.
Yet every conversation I have with another family impacted by rare disease gives me hope, because we CAN do it ALL if we do it TOGETHER. Every individual in our #PURATribe and every individual impacted by rare disease or disability brings a host of unique gifts, skills, abilities, and social connections to the table. The PURA community is a small but mighty army, working together to carve out a better quality of life for our children.
While planning this fundraiser with #TeamJack two months ago, I told Jean and Kyle, “you will be amazed and overwhelmed at the outpouring of support from your friends and family.” Disability and rare disease can feel isolating at times. Opportunities to connect with other families in similar circumstance is critical, but I have also found that friends and family are ready and waiting to jump at the opportunity to show love and support. I saw this exemplified last week as I have seen time and time again as I walk this rare disease journey.
Although the fundraiser is over, you can still donate to Kyle and Jean’s campaign: https://purasyndrome.networkforgood.com/events/15279-pura-perfect-soul-cycle-event