Rarely Normal

We welcome Kristi and her daughter Stella in the studio this week to talk about her son (and brother) Trey who has CACNA1A. CACNA1A is located on the 19th chromosome and it plays a crucial role in the brain by encoding a protein that forms calcium channels. This dynamic duo is creating waves by advocating for disabilities and rare disease!

Our 50th episode, welcomes Tricia Rogers to the studio. Her son Chase has lived with severe food allergies, since birth. We discuss how she navigated it as a first time new mom, and how she manages it as he grows. Her tips and tricks are incredibly helpful for any parent facing childhood allergies!

We're honored to speak to Dr. David Fogelman this week - a physiatrist at Boston Children's Hospital. His perspective on patient care and finding a voice for those who are seeking advice and support, left us in awe. He's truly found his joy in pediatric medicine.

We welcome another BRAT1 mom to the studio this week - Core Eaton. The journey she experienced with her daughter Selah was profound and her message of love and light is one to be shared and celebrated. As she pays it forward with Selah's garden, we hope her message of positivity leaves a lasting impact.

This week, we welcome Sofie to the studio. A mom who found Lindsay while trying to make sense of her son Leo's BRAT 1 diagnosis. She shares the story of her son Leo, how she pays that forward with her two daughters and how she's keeping him and his memory alive.

What a pleasure to have Jon and Jenn in the studio this week. We discuss this son Zach, who passed away in November 2021 at the age of 16, of Osteosarcoma, but focus on how they're paying it forward. They've developed Zach's Bridge, a certified 501(c)3 organization, that provides 1:1 peer support for advanced and bereaved pediatric cancer caregivers. They are truly focused on their goal of easing the pediatric cancer journey, and giving the entire family comfort and time to focus on what truly matters to them!

Osteosarcoma

Pediatric cancer

https://www.zachsbridge.org/

This week welcome Dr. Heather Olson - someone we've wanted to chat with for a long time. She served as the neurologist for Lindsay's son Quinlan when he was being treated at Boston Children's hospital. Her research is in the area of Epilepsy Genetics, including understanding the genetic causes of early life epilepsy syndromes and phenotype-genotype associations. We're so grateful for her work and the special relationships she brings to her patients.

We couldn't be more honored to have Jed and Sarah in the studio this week. Their son Jonah has Down Syndrome and Autism. This conversation shed light on the love and light of kids like Jonah, while also celebrating the tribe of care committed to supporting their needs.

What a pleasure and joy it was to welcome Katie to the studio this week. From her journey to motherhood to caring for her son Cashen who has a deletion of his 6th chromosome, her spirit is incomparable. Her love for Cashen radiates and she's a true inspiration for single mothers and rare disease parents everywhere.

This week we welcomed Kendra to the studio - founder of Rare by Design (a non-profit that works towards creating awareness, inclusion and representation for individuals with a rare disease). Her experience living with MPS (mucopolysaccharidosis) is one that needs to be shared - mainly because of her infallible outlook on life. We laughed so hard, but learned even more, about the importance of inclusion and connection.