Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz

Once Upon A Gene

ONCE UPON A GENE - EPISODE 205

Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping-Schuetz

Lindsey Topping-Schuetz is a parent to seven-year-old Owen, who has cri-du-chat syndrome, also known as 5p-. Lindsey focuses her advocacy work on government policy and she joins me to share her tips and advice if you want to get involved in similar advocacy efforts.

EPISODE HIGHLIGHTS

Can you tell us about yourself, your son Owen and where your rare disease journey started?

My husband and I have one son, Owen, who just turned seven and he's incredible! Everything about our parenting journey has been a surprise and nothing has gone as planned. Beginning at the 20 week ultrasound, there were red flags. At 27 weeks, my husband and I learned that Owen would be born with two genetic chromosomal abnormalities— cri-du-chat syndrome / 5p- and a micro-duplication on the 17th (q) arm. At the time of his diagnosis, he was only the second person known to have the duplication, so we were thrown into the rare disease world quickly. For the last 13 weeks of my pregnancy, we were given very little information, so we immediately researched how to best care for our child and what resources were available in our community to help him.

What influenced your decision to take on the realm of policy in your advocacy work?

I felt like I had to, but I didn't have an interest or a background in it in the beginning and it was intimidating. With a prenatal diagnosis, I spent a lot of time before he was born and during his NICU stay making a roadmap for caring for Owen. A lot of that was learning about and leaning into the resources in our community. I was shocked when we were denied time and time again for resources and support, with no reason at all or a lack of waiver funds. I finally realized how broken the system was after a three year fight to get resources. I couldn't get what I needed for Owen because the laws weren't in place to protect him and I needed to prove that it was wrong, but also that it was against the law and prove why the law needed to be changed.

If parents want to contribute their advocacy into policy, what are your recommendations to get started?

If you want to get involved, search for the people in your community who represent you. Most will be willing to meet with you or have a call and that's a good opportunity to plant a seed. Get involved with your local Arc chapter or other rare disease advocacy groups in your area. Take time to learn about people who are being put into a position of power and vote.

LINKS AND RESOURCES MENTIONED

NeuroJourney

https://neurojourney.courageousparentsnetwork.org/

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https://effieparks.com/podcast/episode-205-mastering-the-art-of-the-supermarket-answer

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

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

ONCE UPON A GENE - Episode 123 - Figuring Out How to Infuse Meaning in the Days After the Loss of a Child

https://effieparks.com/podcast/episode-123-liz-morris

Courageous Parents Network

https://courageousparentsnetwork.org/

The Arc

https://thearc.org/

NW Rare Disease Coalition

https://nwrare.org/

Dante Labs

https://us.dantelabs.com/

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