April 14, 2023

Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Childs KCNT1 Epilepsy with Dadvocate Dr. Justin West

47 minutes

ONCE UPON A GENE - EPISODE 182

Doctor and Rare Disease Dad Is On A Mission to Accelerate Research and Drug Development Efforts for His Child's KCNT1 Epilepsy with Dadvocate Dr. Justin West

Dadvocate Dr. Justin West is the father to Andrew, who has a devastating disease called KCNT1, a rare infant-onset seizure disorder. Justin serves as President and Co-Founder of the KCNT1 Epilepsy Foundation.

EPISODE HIGHLIGHTS

How has your work been impacted since Andrew's diagnosis?

Surgeons tend to be problem solvers and we like definitive, quick solutions we can act fast on. I realized I couldn't carry the same emotional weight for my patients that I did before my son's diagnosis. It was hard to give my energy to patients and have any left when I got home. I went through some career changes to preserve more energy for my family.

What is the goal for Andrew's disease?

Andrew is almost 6 years old and I can't explain the pain of never hearing his voice or seeing him walk. I would consider it a failure if I didn't see him walk, talk or both at some point. I'm driven towards this goal everyday for him, me and my wife and other children too. Meanwhile, I'll be doing everything I can to help Andrew have the best life.

What is the value in families contributing and sharing their experience through surveys?

We have to communicate every story, which varies from family to family. Everyone's perspective and experience is different, and this is a way for families to directly advocate for the patient and themselves. Sharing through surveys gives organizations key information to identify a group of patients and whether or not they have enough people to participate in a trial. Drug companies have to be interested and know that enough patients will try it. If not enough of a patient community is engaged in that process, no treatment advances are made. Spending the time to contribute data has the potential to help everyone in the future and it's the biggest gift any parent can give their sick children, healthy children, themselves and their community.

LINKS & RESOURCES MENTIONED

KCNT1 Epilepsy Foundation

https://kcnt1epilepsy.org/

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By Effie Parks

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