PARENTS AS RARE – EPISODE 092
Patient Stories from the FAOD Community – Live from the IMC
I encouraged the FAOD community attending the 2023 Metobolic Conference in Denver, CO to share their stories with me. This is a special, live-recorded episode that features patient stories that paint a beautiful picture of what their journeys have been like and the importance of community.
EPISODE HIGHLIGHTS
Karen Richtman
This is my first time attending this conference and I have felt so embraced. I have learned more information about my diagnosis than anyone has ever provided me. I feel so connected to this community and it’s truly powerful.
Sylvia Hood-Washington
I am an Environmental Epidemiologist & Historian of Science, Technology, Environment and Medicine, and I am an FOAD patient with Carnitine palmitoyltransferase II (CPT II) deficiency. This is my first conference and I have come here as a 64-year old African American woman who has gone my entire life with CPT II deficiency, undiagnosed and untreated. After a long journey of misdiagnosis, I have created a foundation with a goal of helping anyone who is multi-racial to get the information they need to get genetic testing.
Hayley Coble
I am a public librarian diagnosed at a young age with MCAD deficiency. As an adult, I’ve been fortunate to be able to manage my disease. A benefit to being diagnosed early has allowed me to take my prescribed medication and only see my specialistA doctor that focuses on one branch of medicine. once a year. I feel like my condition has been isolating and I don’t know what my future looks like, but I feel lucky to be at the conference to meet all of the people that I have met, even some with MCAD.
Tasia Rechisky
I’m a 31-year old (Very Long-Chain Acyl-CoA Dehydrogenase Deficiency) VLCAD patient. I was diagnosed through newborn screening and at about 2 years old, my health stabilized, and I grew up leading a pretty normal life. As a teenager, my medication wasn’t working as well and I was less able to keep up with my peers. Today, a lot of my life revolves around managing my health, both mentally and physically. My rare disease experience has led me to talking to people and using my voice for good.
Alex Salser
I am 20 years old and I have LCHAD. Unlike through childhood, I experienced energy deficits during adolescence, along with other symptoms of LCHAD. I started a rehabilitation journey that put me at the forefront of my community and I want to serve as inspiration for people to stay positive and keep going, one step at a time.
RESOURCES MENTIONED
International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference
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