Connect Issues Fall 2020

By Dawn Knowles Hope The Cambridge English Dictionary defines hope as “something good that you want to happen in the future, or a confident feeling about what will happen in the future.” I felt that hope as I listened to Dr. Hal Dietz’s session, The Future of Marfan Syndrome Research, during the Foundation’s International E 3 Summit. Dr. Dietz outlined the roles and progress of genome editing, stem cells, and CRISPR technology. He discussed how researchers are using these to understand how the change to the FBN1 gene (the gene mutation responsible for Marfan syndrome) impacts the cells so they can then go forward to develop therapeutic strategies to correct the abnormal cell behaviors. He also discussed the current research underway impact that other gene variants—those that don’t cause problems or are neutral—could have. If we can understand the genes and variants that protect, we can perhaps mimic these mechanisms of protection using medications. Additionally, they are continuing to study the protective and harmful impacts of available medications, hormones, diet, and exercise, especially exercises with a protective benefit. As I listened to this, I imagined what this research could mean to someone like me who has Marfan. Two recent findings – the danger of fluoroquinolone antibiotics and the impact of oxytocin, a hormone produced during breastfeeding – may have changed the course of my Marfan syndrome. I took fluoroquinolones in my teens and early 20s. I was nursing my baby when I needed emergency aortic surgery when I was 28. Knowing that others can make better decisions because of research gives me great hope. Dr. Dietz emphasized that tremendous progress regarding the variability of expression of the FBN1 mutation within families. Researchers are looking at the potential protective


and significant advances have been made. So, while many of the gene therapies aren’t at the place where we can use them therapeutically yet, we have great reason to be hopeful that they will have an impact not just on the very young, but also across the spectrum of people affected by Marfan syndrome in the future. I’m excited and hopeful for the younger generations and I’m also thrilled to know that some of these therapies may still be available to me as I age beyond my current 53 years. Dr. Dietz emphasized, “So much has happened in the last five years, (we) can’t even dream what’s going to be possible five years from now.” blog, Polly Campbell said, “Research indicates that hope can help us manage stress and anxiety and cope with adversity. It contributes to our well-being and happiness and motivates positive action.” Those of us who are affected or who love people who are affected know that stress, anxiety, and adversity are part of what we navigate with Marfan syndrome. Knowing that research is building a brighter future makes it easier to keep moving forward with a hopeful attitude. I highly recommend diving into the details of current research in Marfan syndrome and related conditions and supporting the Foundation’s research initiatives. It’s about hope for the future – for all of us in this community. Dawn Knowles is the volunteer leader of the Foundation’s Marfan Writing Group. She was diagnosed with Marfan syndrome at age 21 and survived an aortic dissection at age 28. Dawn loves writing, going to the beach, and, most of all, spending time with her husband, Rick, adult kids, and two adorable grandsons in Michigan. Hope is something we can hold onto and it is also good for our health. In an article on Psychology Today’s

Dr. Dietz emphasized, “So much has happened in the last five years, (we) can’t even dream what’s going to be possible five years from now.”


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