ONCE UPON A GENE - EPISODE 119

One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

Kathryn Alexander is the mother of three kids and her rare disease story starts when she gave birth to twins and a newborn screening on her son came back positive for Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is the youngest to receive it. 

EPISODE HIGHLIGHTS

Can you tell us about your family?

I am a mother of three little ones. I have a son named Jack who is 4 years old and twins who were born the first day of the pandemic lockdown in 2020. My twin son, Connor, was diagnosed with SMA Type 1 through newborn screening. 

Did anyone educate you on opting into newborn screening?

I didn't know that newborn screening existed or that my son was getting screened. No one talked to me about the newborn screening for all these rare diseases or the treatments that exist. Getting the screening is important because if you get a diagnosis and begin treatment right away, your child has the best chance for successful intervention.

What do you hope to accomplish through sharing your story?

I want Connor's story to help other people to understand the importance of doing newborn screening and seeking urgent treatment. There aren't currently uniform guidelines across the country for newborn screening and I don't understand the ins and outs of why, but I'm figuring out how to use Connor's story to contribute to change. I have strong feelings around sharing my experience and it helps me cope. 

How did you process the birth of twins, the pandemic, Connor’s diagnosis and beginning treatment all at once?

Losing someone close to me when I was younger helped me through my experience with Connor because I knew how to cope under extreme duress and I knew how to push and keep going. I keep my focus on the positive in situations and don't sweat the small stuff.

LINKS & RESOURCES MENTIONED

Wild: From Lost to Found on the Pacific Crest Trail by Cheryl Strayed

https://www.amazon.com/Wild-Found-Pacific-Crest-Oprahs-ebook/dp/B005IQZB14

Tiny Beautiful Things: Advice on Love and Life from Dear Sugar by Cheryl Strayed

https://www.amazon.com/Tiny-Beautiful-Things-Advice-Sugar/dp/0307949338

When Bad Things Happen to Good People by Harold Kushner

https://www.amazon.com/When-Things-Happen-Good-People/dp/1400034728

When Things Fall Apart: Heart Advice for Difficult Times by Pema Chodron

https://www.amazon.com/When-Things-Fall-Apart-Difficult/dp/1611803438

George Mumford Podcasts 

https://georgemumford.com/press/

ONCE UPON A GENE - Episode 101 - Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special

https://effieparks.com/podcast/episode-101-melanie-dimmitt-m9dga

ONCE UPON A GENE - EPISODE 059 - Palliative Care & Courageous Parents Network with Founder Blyth Lord

https://effieparks.com/podcast/episode-059-blyth-lord

Rare and Relatable on Discord

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

The Disorder Channel

https://www.thedisordercollection.com/

EveryLife Foundation

https://everylifefoundation.org/

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