ONCE UPON A GENE - EPISODE 168

Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel

I met Payal Patel at the 2022 Global Genes Patient Advocacy Summit. She's digging in and getting things done, she really impresses me and you have to meet her. You'll definitely be seeing more of this rare mom. 

EPISODE HIGHLIGHTS

What led up to your attendance at the Global Genes conference last year?

My daughter was diagnosed with a rare disease in July 2022. I had just met another mom whose child had a mutation on the same gene and she mentioned the Global Genes conference. I decided to go, but upon arrival, I felt really out of place not knowing anyone there. I didn't know what to do and I wasn't confident in putting myself out there to network. I told my husband that I was going to fly home and he convinced me to stay and see what happened, and I'm glad I stayed. It was a magical three days of networking, learning and meeting mentors. 

How did you find the courage to go to the Global Genes summit after getting a diagnosis only a couple months earlier?

When I got the diagnosis, I wasn't in a good head space, but the idea of doing nothing scared me more than taking the leap of going to the conference. It was a good starting point to go and see what others were doing for their kids and it was the best decision I made. I made so many connections with rare disease advocates that have helped me to get to where I am. 

How did you teach yourself about DLG4 and determine your next steps?

A month after diagnosis, I shared the information within my network on Facebook and asked for help. I asked specifically for scientists, doctors and geneticists to help and so many people stepped up. A friend invited me to visit her in the lab to explain the science around how proteins work. Another friend who is a genetics counselor met with me. I attended the Global Genes summit, but I also kept researching and figuring out what to do next. I read blogs, listen to podcasts, talk to patient advocacy groups, network and ask questions. 

What are you planning for right now?

I feel strongly after talking to doctors and patient advocacy groups, that I want to do a drug repurposing screen for our gene. I'm taking things one step at a time-- the most obvious is a drug repurposing screen that isn't going to cost an amount of money I can't raise and it'll be impactful in the short-term for anyone impacted by DLG4. Looking at the big picture, my confidence takes a hit, so I'm taking things one day at a time, understanding that I can't control the variables of the future.

LINKS & RESOURCES MENTIONED

ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group. With Nasha Fitter and Mike Graglia

https://effieparks.com/podcast/episode-094-mike-and-nasha

Save the Date for the 2023 RARE Patient Advocacy Summit

https://globalgenes.org/event/rare-patient-advocacy-summit/

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