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.
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.
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.
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 specialist 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.
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.
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.
International Network for Fatty Acid Oxidation Research and Management (INFORM) Conference
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