As a scientist, sometimes I understand too much about my brother's cystic fibrosis
My knowledge of his disease can be helpful, but also supremely frustrating
Several years ago, doctors performed surgery on my brother Geoffrey to repair his deviated septum. It was a routine surgery, and everything went fine on the operating table. But when they removed Geoffrey’s breathing tube after the surgery, he aspirated; fluid seeped into his lungs, he contracted pneumonia, and he spent the next four weeks on a ventilator in a drug-induced coma, struggling to breathe on his own.
As we spent weeks watching Geoffrey slowly recover, my family often wondered what kind of rest he was getting while under anesthesia. After all, while were all tearing our hair out, maybe Geoffrey would wake up well rested.
At the time, I was finishing up my first year as a PhD student in neuroscience, and I knew just enough to give a partial answer. During the course of my studies, I learned the pharmacology of several types of drugs, and some of those I learned about appeared in the cocktail my brother’s physicians were using to keep him under. So while he looked like he was resting, I knew he probably wasn’t. Based on the drugs he had on board, he was likely not experiencing anything close to real sleep.
Geoffrey’s trip to the ICU that time was an isolated incident, but it was complicated by his underlying illness, cystic fibrosis (CF), a disease that damages the lungs and makes it difficult for patients to breathe even without the help of pneumonia.
CF is a rare genetic disorder that causes breathing difficulties, chronic lung infections, diabetes, and a host of other, potentially catastrophic secondary effects. For a “rare” disease, it’s rather common: there are 30,000 people living in the United States with CF today. Despite CF’s high prevalence, and despite several ongoing research efforts, however, the average patient never sees his or her 40th birthday. My brother is currently 34 years old and is still active, and he counts himself as one of the lucky ones.
As the lone scientist in our family, I know more than anyone else about the science of Geoffrey’s illness, and I lean on that knowledge and my love for learning to help me deal with with what is going on with him.
My family knows the basics of the disease – enough to get Geoffrey the right kind of help when he needs it. But as a researcher who is interested in all things science, I’ve learned more about CF than the typical family member needs to know. I often picture his lungs as a bacteria-infested petri dish, subject to a myriad of pharmaceutical interventions as part of a never-ending microbiology experiment. I can see how his lung infections, digestive and kidney problems, diabetes, and antibiotic resistance all fit together on a straightforward and predictable roadmap. But while my knowledge of CF helps me understand Geoffrey's condition, it has often made me realize the limitations of his care. And at moments like these I wish I did not know as much as I do.
Treating CF, for instance, seems like it should be easier. Scientists know exactly what causes CF, yet they have been unable to develop a widely applicable treatment that targets its cause. In a patient with CF, a genetic mutation causes the CFTR gene to produce a faulty chloride channel (also called CFTR) that degrades too quickly. This causes the patient's cells to absorb surrounding water, leaving behind a thick layer of sticky mucus on the surface his or her organs. Scientists are very familiar with this process, which means, in theory, they should have a reasonable idea of what kind of drugs they need to make to treat the condition effectively.
About 12 years ago, for instance, the FDA approved a drug that treats a protein similar to CFTR in patients with chronic constipation. The drug activates a channel that dumps chloride into the intestines. Water follows the chloride, softening a patient's stool. If scientists can develop a drug that softens stool by activating a chloride channel, then why can't they develop a drug that softens mucus via a similar mechanism?
Instead, Geoffrey’s treatment regimen focuses on managing his symptoms: He consumes a consistent stream of digestive enzymes and insulin to compensate for his mucus-damaged pancreas. He takes heavy doses of antibiotics to keep his chronic lung infections at bay, and he uses various pharmaceutical and mechanical means to loosen up the mucus in his lungs so he can cough it out. When he’s in the hospital every six to eight months for a three-week tune-up, a respiratory therapist pounds on his back and chest a couple times a day with a cupped hand to shake up his chest cavity. Every 20 hits or so, the therapist stops while Geoffrey coughs so hard that he nearly collapses.
Maybe scientists haven't developed effective treatments for CF because of a lack of research dollars (which is common with rare diseases), or perhaps it's because the CFTR protein is inherently complex. But either way, it is instances like this where it might help ease my frustration if I didn’t understand the broader context.
Fortunately, this is not the end of the road for Geoffrey. Soon, he will no longer need these "tune-ups." Instead, he's getting a whole new pair of lungs.
In early March 2018, Geoffrey went on a regional lung transplant list. An inevitability for most CF patients, the thick mucus in Geoffrey’s lungs has damaged them so much that he needs to start fresh with a new pair to stay in good shape for as long as he can. Since the new pair of lungs will not contain his DNA, the lungs themselves will not have CF. He will no longer struggle to breathe, and the chronic lung infections that land him in the hospital so frequently will no longer factor into his life.
Instead, Geoffrey must deal with the “disease” of hosting a foreign organ in his body. For the rest of his life, Geoffrey must take immunosuppressive drugs so his immune system rests its defenses and does not attack his new organ. Consequently, he must always watch out for new infections that might cause just a low-grade fever in a healthy person but can turn deadly in him. As one of his doctors put it, he is replacing one disease with another one – but one that comes with a longer life expectancy and a better quality of life.
Geoffrey joined the list on March 2, and at the time of this writing, he's been on the list for eight weeks. His doctor told us the average time a patient spends on the lung transplant list at Northwestern Hospital, where he's going to receive the transplant, is four weeks, so we're expecting the call to come at any moment now. As soon as it does, we'll rush to the hospital to join him and stand by as he undergoes the 10-hour transplant surgery. Doctors will make an incision across his entire chest, just under his rib cage, and switch out the lungs.
Geoffrey will likely remain in the intensive care unit for several months and then spend a few more months recovering at home with family until he can take care of himself again. But it will all be worth it because after this, we hope he will live a long life free of breathing difficulties.
I am both nervous and excited to see Geoffrey undergo the next stage in his life. Transplant surgery is risky, but I am comforted in the fact that no matter what happens, Geoffrey will no longer find himself coughing uncontrollably and losing his breath following the most minor bouts of exertion. I am ready to take on the challenge of learning what to expect from Geoffrey's new lungs and finding new ways to help keep him happy and healthy.
We set up a page to raise money for the Children's Organ Transplant Association (COTA) in honor of Geoffrey. COTA is a non-profit that helps families like ours raise funds to handle the costs associated with an organ transplant. All of the money they receive in Geoffrey's honor will go to transplant-related expenses, including insurance premiums, drug co-pays, hospital visits, transportation, etc. We're also using his COTA page (and our Facebook and Twitter) to share regular updates on his journey (as well as on how his cat Stella feels about all of this).