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The History of Cystic Fibrosis

Dorothy Hansine Andersen

Dorothy Hansine Andersen

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.

Comments

  1. Seanset says:

    Very interesting article. The issue of using trial drugs is a very fine balance as you say. We have seen both sides of this, one drug was very good the other we are still trying to reverse the downhill affect it caused. Have you researched your family tree? I have a distant cousin on my Mum's side of the family who has CF, so at least we know where my CF genes have come from.

  2. There's nothing I've been made aware of. My mom's the grave vistor and
    family tree person in the family, but I haven't heard anything about CF down
    the line.

  3. Mildred says:

    I'm Jesse's mom.
    Yes, we have distant relatives with CF. We know of one on my father's side of the family and one on my mother's side of the family.
    We're not certain about Jesse's dad's family. There were many babies on his mother's side of the family who died during pregnancy or soon after birth. It could be a link, but we're not sure.
    Thanks for the history lesson, Jesse!

  4. There ya go!

  5. wow – just saw your 125lb picture! congrats! you look great!

  6. Thanks! I hit 134 but have been having digestive problems on colistin, so I've dropped to about 128 in the evenings. I guess non-colistin months will be for gaining weight.

  7. Seanset says:

    I have an obsession with genealogy and have traced my family name back to 1642. Even found some distant relatives that where in the American Civil War.

  8. That's awesome. North or South? 😉

  9. Seanset says:

    They were from Michigan & Wisconsin from what I can remember. Has you Mum found any English relatives?

  10. Mildred says:

    Jesse's Mom here again 🙂

    I've not found any connections to England, only Germany on both sides of my family and both sides of Jesse's dad's family.

    We also have ancestors who were in the Civil War on the Union side.