Taking on Cystic Fibrosis: A Student Story

I’m Sam Neff, I’m a student at Dartmouth College,
Class of 2021, and I have Cystic Fibrosis. Cystic Fibrosis is a genetic disease, and
there’s a defective protein. Usually, in the normal lung, there’s finger-like
projections, and they whisk away debris and bacteria. But because the CF lung is so clogged up with
mucus, this doesn’t happen properly. You can’t clear out the bad things, so it’s
very easy to get a bacterial infection. That’s the aspect of the disease that really
hampers your quality of life, and it’s responsible for the shorter life expectancies associated
with the disease. Living with Cystic Fibrosis, it’s very difficult
to sit and wait for new scientific discoveries to happen. And because I have a scientific background,
I thought it would be beneficial for me to try to get involved in some of this research
and try to make a contribution of my own. I’m very lucky to be going to school where
I am, because right up here at Dartmouth, the Geisel Medical School is one of the most
prestigious CF labs in the country, and it was so easy just to get involved. All I had to do was shoot out an email and
ask if I could come work in the lab. I started working on research with Bruce Stanton’s
team in the lung biology lab. This research project is all about analyzing
gene expression studies. If we see that this gene is expressed in a
large range of the CF population, maybe it’s something we should look at. Right now, I’m also a patient in a clinical
trial at Dartmouth-Hitchcock. There’s this triple combination of drugs that
are being tested. Now that we know more about the genetics,
we can really target the defective protein that’s responsible for the symptoms of CF. Two of these drugs help to refold the defective
CF protein, and the third drug, further helps to correct its shape. This is really cutting edge stuff. This is the frontier of CF research. In participating in this trial, it’s not
only beneficial to my health, but also the results of this trial will help give scientists
information about whether these medications are effective, how we should use them to treat
CF, and that will benefit the CF community at large. Cystic Fibrosis is a progressive disease. It gets steadily worse throughout your lifetime. So it’s really like running a marathon. You have to keep yourself healthy along the
way. It’s all about prevention. The daily treatment of CF is all about clearing
out the lungs, thinning the mucus, trying to ward off bacterial infections. There’s a machine called the vest, it shakes
up your lungs while you’re wearing it. So you sit for a half hour in the morning,
and a half hour at night doing this physical therapy to help clear out the lungs. And while you’re doing this, you’re also
taking inhaled medications. In addition, you take a variety of antibiotics,
digestive enzymes, vitamins, and probiotics to compensate for the effects of the antibiotics. I think it’s very important to project an
image of strength, to have a positive attitude about the disease, because if you project
to others that you’re healthy, then they don’t feel that you’re sick, and I think that rubs
off on you. I’ve been running for the last five years. Not only is running a psychological benefit,
it keeps your mind off of the disease, it also really helps to clear out your lungs
in the short term and strengthen them in the long term to make breathing easier. I think there could be a cure to CF in my
lifetime. That is why I’m so interested in getting involved
in research so I can help push the science forward and possibly get to that point.

Comments 5

  • Great story

  • We'd like to send you a song we wrote for a CF fundraiser. How?

  • I've read that Arrowhead Pharma is using RNA interference (RNAi) to target the bad protein from being produced in the CF patient.Their site says, "ARO-ENaC is designed to reduce production of the epithelial sodium channel alpha subunit (αENaC) in the airways of the lung. In cystic fibrosis patients, increased ENaC activity contributes to airway dehydration and reduced mucociliary transport.Disease:Cystic fibrosis (CF) is a rare disease caused by a genetic mutation that leads to mucus buildup in the lungs and pancreas. In CF lung disease, patients can have difficulty breathing and experience frequent and persistent lung infections."  https://arrowheadpharma.com/pipeline/

  • Such an inspiring story. <3

  • Excellent video and content by an amazing young man.

Leave a Reply

Your email address will not be published. Required fields are marked *