Tune in to learn more about The Oley Foundation! ...
ENERGY IN ACTION - EPISODE 050 You Never Give Up Hope in Life Devon Gottfurcht shares her experience and journey with a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). Her message is one of redirection, personal advocacy, perseverance and never giving up hope. EPISODE HIGHLIGHTS When did you first experience symptoms? It started with extremely dry eyes, light sensitivity, infections and other eye issues. Initially my eye doctor wasn't sure what was causing my symptoms. One day, I couldn't see and went back to see my eye doctor where I received a referral to a cornea specialist. I was referred to another specialist for a biopsy and received a diagnosis of a mitochondrial disease called chronic progressive external ophthalmoplegia (CPEO). How was your wedding centered around mitochondrial disease? Watching a sports program one day, I noticed Ken Rosenthal was wearing a mito bow tie. I wrote to him, introduced myself, told him I was getting married and that I noticed his bow tie. I ordered the same bow ties for the men in the wedding party and the bridesmaids wore green dresses. During the wedding, my nephew spoke about the meaning of the bow ties and the disease they represented. My wedding was one of the best days of my life, I felt great and I had the wedding of my dreams. What has life been like since your wedding? I have since begun having issues with my legs and my disease has now spread to my legs and arms. I've been forced to slow down. I had to mourn the loss of my career and success. But I work from home for my husband's law ...
ENERGY IN ACTION - EPISODE 038 Patient Led Trials Steve Smith is a rare disease advocate, father, and a fierce fighter for rare disease patients. EPISODE HIGHLIGHTS How did you become a rare disease advocate? My advocacy started when my three year old was diagnosed with a rare disorder in 1990. My focus was on our family, but I also began looking to see what can be done medically and I was also pretty quickly introduced to the world of clinical research. I attended a conference where a doctor presented a breakthrough in genetic medicine. About ten years later, there was a clinical trial for a disease which is biochemically related to my son's disease. Through a decade of advocating, I realized all diseases are interrelated and of the regulatory hurdles to rare disease drug development. What can families do to advocate for themselves and for their children? Time is definitely of the essence when talking progressive diseases. There's a tug-of-war in the healthcare system, in the regulatory process and drug development, between safety and speed. As parents, we want speed. But things can be different than they were because we have modern science, advanced computing, more knowledge of the human genome, sophisticated collaboration. We can have safety and speed. Collaboration is important where families are increasingly part of the healthcare system. Newly diagnosed families should use their voice and collaborate. How does the 21st Century Cures Act impact rare disease patients? Rare disease advocates worked hard on the 21st Century Cures Act and it was a turning point in legislative change. What it did for rare disease drug development was allowed for an improvement of breakthrough therapy designation. ...
