Rare Disease Mom Chat with Mariah Gillaspie - Lightning and Love Foundation

Mariah Gillaspie started the Lightning and Love Foundation for her two daughters, Abby and Emma, who both have the only known mutation of the fact THAP12 gene. EPISODE HIGHLIGHTS Tell us about yourself, your daughters and Lightning and Love. I'm the mom to two ultra rare little girls, 4 year old Emma and 2 year old Emma. They both live with a genetic condition which is technically still un-diagnosed. I launched the Lightning and Love Foundation to further research into the gene and we're finding more and more evidence that the gene is the cause of their disease. They both have daily seizures, don't walk, talk, or have head control and are feeding tube dependent. Why is it important for you to share your story? Before I started the foundation, we were a private family and weren't involved much with social media. I want the world to know my girls for exactly who they are, want to push research and wanted fundraising support which gave me the push. As I started sharing, it opened my eyes to how amazing people are. A rare disease journey can be lonely and isolating, but putting my story out exposed me to a community of support. I want to be that support for others and I want the community to keep coming together to drive research for many other ultra rare diseases.  How have you worked through your grief and how does it still impact you? It's been about coming to terms with what reality looks like, not walking around on eggshells, but knowing that something bad could or will happen. Within our family, we've formed our roles and it's become more routine when things happen and we function better in situations we can't control such as hospital stays. The grief has been hard and has consumed me many times. We have turned to laughter as a coping mechanism, we joke a lot and keep things light. We have an amazing support system between my mom and in-home nursing and other family. I can run away for a mommy day and my husband and I can have date night and maintain our sanity. I accept and live in the know about our unique life and embrace that we have a lot of love in our family.  How do you take care of yourself? I try to take a bath in the evenings with a book and let the sound of the water calm my mind. Taking that time isolated behind a closed door helps me decompress. How do you manage mom life and the foundation? Balancing sometimes becomes the harder part. Jumping into the rare disease community was new and has been a different experience. My background is not in medicine, science, advocacy or fundraising and I'm learning everything from scratch and it's intimidating. It takes a lot of self-discipline and self-talk to feel like I'm able to achieve my goals. CONNECT WITH MARIAH GILLASPIE Lightning And Love on Instagram https://www.instagram.com/lightningandlove/?hl=en Lightning And Love Foundation Website https://www.lightningandlove.org/ Email Mariah mailto:[email protected] LINKS AND RESOURCES MENTIONED Lightning And Love on Instagram https://www.instagram.com/lightningandlove/?hl=en Lightning And Love Foundation Website https://www.lightningandlove.org/ TESS Research Foundation https://www.tessresearch.org/ EPISODE 057 - SLC13A5 - TESS Research Foundation with Kim Nye https://effieparks.com/podcast/episode-057-slc13a5-tess-research-foundation-kim-nye TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  

Fecha de Publicación: 18 de marzo de 2021

Duración: 29 min