ONCE UPON A GENE - EPISODE 120

What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander

Kathryn Alexander joins me for a part two segment to further discuss her unique rare disease experience. Through newborn screening, her son Connor was diagnosed with Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is among the youngest to receive it. She highlights the fear, isolation and guilt she feels as she moves beyond treatment.

EPISODE HIGHLIGHTS

How did Connor's diagnosis and cure affect you emotionally?

While you think you'd be relieved and thrilled to have a treatment so you could go on about your life, that wasn't my experience. He's living pre-symptomatically and he's able to do things that other children with his condition can't do, which is amazing. His therapy could last his whole life, but it also potentially couldn't. There are so many unknowns that it leaves me a nervous wreck and I don't have a sense of relief. I feel scared, confused and extremely isolated because no one else is in the position that I am. I also feel a lot of guilt that Connor received treatment when so many other children haven't.

What advice do you have for parents who feel separated from the rare disease community?

I like to practice the four A's- acknowledgement, acceptance, action and assessment. I think you have to abandon your definition of acceptance and redefine it for yourself. For me, acceptance is understanding something is true, it happened and it exists. Taking action helps me to feel like I'm making a difference, which helps me grieve, process and feel like I'm part of something even though I don't have a community of people around me who share my experience. This has helped me to make connections and has helped me in general.

LINKS & RESOURCES MENTIONED

Rare and Relatable on Discord

https://discord.com/invite/7UFUPAFs8K

ONCE UPON A GENE - Episode 119 - One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

https://effieparks.com/podcast/episode-119-kathryn-alexander

ONCE UPON A GENE - Episode 090 - Mental Health and chronic stress with Rare Disease Dad and Psychologist Al Freedman, Ph.D

https://effieparks.com/podcast/episode-090-rare-disease-dad-and-psychologist-al-freedman

EveryLife Foundation

https://everylifefoundation.org/

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/