On April 21, 2011, after months of testing, our little Carly-Q was diagnosed with Progeria at 10 months of age. At the time, Carly was the 80th known child living with Progeria in the world. As of January 2016, Carly is one of 126 identified children and experts estimate there are a total of about 300. Progeria is a very rare, fatal, genetic condition, characterized by accelerated aging. Although kids with Progeria are born looking healthy, by the first few months of age they begin to display signs of growth failure, loss of body fat and hair, aged skin, stiffness of joints, hip dislocation, and atherosclerosis /cardiovascular disease. All children with Progeria die of the same heart disease that affects millions of normal aging adults (arteriosclerosis), but instead of occurring at 60 or 70 years of age, these children may suffer strokes and heart attacks even before age 10.
One part of Carly Cares’ mission is to support the work of The Progeria Research Foundation [PRF]. PRF was founded in 1999 by the parents and aunt of Sam Berns, who was diagnosed with Progeria just before his 2nd birthday. PRF has gone from creation, to gene discovery, to clinical drug trials, to treatment in just 15 years, and is now co-coordinating and funding a third drug trial. We cannot imagine anyone more dedicated to finding a cure as soon as possible.
Carly participates in a clinical drug trial where she receives lonafarnib, a drug proven to be an effective treatment in several areas, including the critical cardiovascular system. A new study shows a statistical estimate of 80% reduction in risk of death for children on treatment, and an average estimated survival increase of 1.6 years. Lonafarnib is giving Carly a stronger heart and a longer life, and while this is a tremendous step forward, it is not a cure.
We need your help. In addition to local research efforts and family support, your donations help to fund the drug trials where Progeria kids travel to Boston, Massachusetts from around the world to receive medicines and be evaluated. Like us, they are providing tissue samples, medical charts, information and daily measurements to PRF so that researchers around the globe can keep working on a cure. With science and technology advancements, the PRF team is utilizing every resource possible while it speeds toward a cure.
We are positive that Carly’s quality of life will be directly improved due to all the hard work being done by PRF and the research teams. We are so thankful for your support, and all of the love and positivity everyone has shown us so far. Thank you so much – and keep that positivity coming! Together we WILL find the cure!