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The Diverse Spectrum of Health Across the CF Community

If you’ve ever met more than one person with cystic fibrosis, it’s likely they had very different experiences than you. First, their approach likely will be different; chronic disease affects everyone differently mentally, so some are vocal and “embrace” it, while others are quieter and choose to consider it a personal journey. Both approaches are fine, it’s just that we act differently.

CF also affects everyone differently physically. Over the years, people traditionally have referred to CF as a “lung disease” because that’s the most commonly known clinical manifestation of illness. But for most of those with CF, the lungs are only a part of it, and for some, not even the worst part.

CF is typically caused by a defective ion transport protein — the cystic fibrosis transmembrane conductance regulator protein, or CFTR. When the protein doesn’t function properly, salt transport is dysfunctional, which is what causes CF mucus to be so thick. This means that the majority of CF disease resides in the organs and tissues surrounded by mucosal layers: the lungs, stomach, gastrointestinal tract, sinuses, pancreas, and liver. CF disease goes further than that. Because of constant exposure to medications, it can also severely damage kidneys.

CF is well understood, all things considered. It’s an extraordinarily complex disease. In fact, I’d argue that knowing what we know about CF and its complexity, the fact that CF care and understanding is so state-of-the-art is one of the greatest scientific and medical achievements of the last 30 years.

Whenever people find out that my sister died at age 29, one of the first responses is, “Wow! And you look so healthy! Did you guys have the same type of CF?” or some variation of that. I understand the sentiment, and it’s definitely a heartfelt one. The answer is almost always yes: Siblings with CF have the same “type,” or mutation, of CF. (Though I won’t digress in how it’s possible, it is theoretically possible for full siblings to have different mutations, but it’s incredibly unlikely.)

Between siblings, the mutations and environment are likely to be the same or similar, but there are other factors. There are many modifier genes that affect our immune system, our mucus clearance, and how our body can or can’t gain weight, which affects immune response. There are even modifier genes that affect the bacterial composition of our lungs as well as the CFTR function.

When all of this is considered, it’s hard to say CF is a monolithic disease. I would almost prefer to call CF a collection of diseases that span a large spectrum of outcomes. There are people who have CF metabolic disorder or CF-related diabetes and share no other common threads with the majority of those affected by CF. Even patients with rare mutations have different outcomes and biomarkers that don’t automatically line up under a “CF” diagnosis.

It’s become clearer over the years that there are many factors – genetic, environmental, fortune – that go into determining how a person with CF will progress. It’s important that we acknowledge that the mental and physical health across the CF community will be about as diverse as there are total patients. We can make science and medicine better by understanding that.

Follow along with my other writings on my humbly named site, to cystic fibrosis.

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