Because the symptoms vary and are largely hidden, cystic fibrosis was only described and suspected for the last couple of centuries without having a true diagnosis of the disease until the turn of the 20th century. Observations of scarring of the pancreas and meconium ileus came first, pathologically, but it was documented in the 1700s, “Woe is the child who tastes salty from a kiss on the brow, for he is cursed, and soon must die.”
Imagine having infants dying within days because their intestines are literally blown apart at birth. Toddlers who are half the normal weight or less because they aren’t absorbing their food because their pancreas isn’t providing enzymes. These are invisible problems and involve issues that aren’t even understood yet. “Failure to thrive” was often what was put on death certificates of people we can trace back as potentially having died from CF based on family history.
Based on the research milestones according to the list on the Cystic Fibrosis Foundation site, there is good reason for hope of a cure
1938 Dorothy Andersen, M.D. writes the first comprehensive medical report on cystic fibrosis (CF).
1962 The CF predicted median survival age is 10 years.
1989 A team of Cystic Fibrosis Foundation-supportes scientists discovers the defective CF gene and its protein product (CFTR) thus opening the door to understanding the disease at its most basic level.
1994 The Food and Drug Administration (FDA) approves Pulmozyme, which is proven to thin the tenacious, sticky mucus in the lungs – and is the first drug developed specifically for CF.
1997 The FDA approves TOBI, the first aerosolized antibiotic designed for CF, which is proven to reduce hospital stays and improve lung function.
2006 The predicted median age of survival for those with CF increases to 37 years.
2010 VX-809, a second Vertex drug aimed at treating the basic CF defect, shows encouraging results in a Phase 2a clinical trial.More than 30 potential therapies are in the Foundation’s drug discovery and development pipeline. The more drugs in the pipeline, the greater the odds of producing successful therapies and a cure for CF.The FDA approves Cayston® (aztreonam for inhalation solution), the first inhaled antibiotic for the treatment of CF approved in more than a decade.
Pure, genetic resolution of the core issue is just around the corner! I’ve been benefiting from Pulmozyme for over half my life now, but it was the only “wonder drug” for years and years. Now we have Cayston and some genetic super-wonder drugs in the end phases of FDA trials. I should qualify for the next trial, which I will only do as long as I’m able to stay on my current meds. I don’t mind going on a placebo, as long as I don’t have to stop doing what is working now.
We are still in discussions about how to handle trials now, since my last trial landed me on IVs last year. The problem was that I had to stop taking one of my meds to qualify so they could study the trial med without the possibility that it was being affected by being on the other one. My lung functions bombed and they put me on IVs on the spot during the trial. It’s not something we can risk again, so we will have to pay special attention to the rules of the study if I decide to look at one again.