Rarely Normal

Steph McCabe joins us in the studio this week to talk about her son Emmett and his journey with Sanfilippo Syndrome (type A). Diagnosed in October 2023, it is a rare genetic disorder also known as Mucopolysaccharidosis IIIA (MPS IIIA). While she's writing Emmett's Newsletter and fundraising she also concentrates on love, hope and the joy of each day.

- https://curesanfilippofoundation.org/what-is-sanfilippo/

- https://pattisonchildrens.ca/how-you-help/who-you-help/meet-our-kids/emmett/

Morgan and Ryan joined us in the studio to share their daughter's experience with Spinocerebellar Ataxia Type 5 (SCA5). Mighty Madilynn's rare disease is not slowing her down - we talk about her care, parenting, her relationship with her brother, and patient advocacy.

They're also raising funds to build an accessible playground at Madilynn's school - donate here https://wingateplayground.com/

Learn more: https://www.ataxia.org/

[Trigger warning for expecting moms]

We're so grateful to have Andrea in the studio this week to talk about her daughter Emery and her experience with her stillbirth. Andrea's perspective on loss, love, and her ability to continue to celebrate Emery's life is nothing short of awe-inspiring. Her daughter, Emery Grace has taught her the power of grief and is inspiring Andrea's approach to life.

Excited to have Ashley in the studio to help us discuss different forms of anxiety and unpack solutions. From cognitive restructuring to the power of journaling and identifying patterns, we loved this open and authentic episode

Buy the Journal: https://a.co/d/0akrFLSU

Website: https://fourprogress.com/

Adult diagnoses are often not discussed, which is exactly why our conversation with Amy is so critical. She wasn't diagnosed with ADHD until adulthood (thanks to her determination!) and not until she became a mom, that she was diagnosed with OCD. We hope this episodes inspires others to seek medical testing and intervention, no matter the age!

Check out her blogs:

Facebook page:  https://www.facebook.com/61588540267695/
Blog on systems thinking: https://meanwhile.ghost.io/

We couldn't be more grateful to Kelsey for sharing her daughter Stella with us. She's fearless and strong, beyond measure. Her work in the Courageous Parents Network is paying it forward to other parents and families dealing with child loss and we're honored to have her join the podcast and share her perspective on love and loss.

https://courageousparentsnetwork.org/

We're beyond grateful to Lolita for sharing her son Michael's journey with ALD. From discovery to treatment, to his day-to-day care, we're in awe her of love and compassion for others. We even love how his sisters are getting into the medical field - inspired my Michael.

https://www.aldalliance.org/

https://www.hopkinsmedicine.org/health/conditions-and-diseases/adrenoleukodystrophy

What a treat for our listeners, to have Dr. Ryan in the studio. Her work with medically complex children, providing support for patients, but also the whole family, via her caregiver coaching. Her work fills a much needed gap in the community and her commitment is infectious.

https://www.foundationfirstpt.com

Saddie Baddies unite! This week, we talk about all the facets of grief with Jasmine, who started her grief journey after the death of her father. This open and vulnerable conversation shows how universal grief is, how important it is to find a tribe, and how critical is to 'feel the feels.'

This week, Kim Bradley shares her journey being a rare disease mom. Her daughter Laelynn (which is means 'flower of hope'), has faced 100's of surgeries and continues to shine a light of love. We discuss everything from Laelynn's day-to-day care, parenting a big family, PCA (patient care assistant) and the need for rare disease parents to rely on their tribe!