I’m a teacher and today(the first day of school), I have been informed that a student of mine has cystic fibrosis.
We have a meeting Thursday with the boy’s mother to discuss it. He’s 12/13(7th Grade) and I didn’t notice anything unusual with him today.
From my reading, it seems C.F. is completely fatal and that most people don’t live to 40 with it.
Is there any chance he has a “minor” form of it? Does that exist, or is it pretty much have it/don’t have it?
I know, I know. We aren’t doctors and I shouldn’t assume anything either way until we have the meeting.
I’m just hoping there is a chance I don’t have a student who, at 13, is half way through his life.
CF has, in the last few years, become more of a chronic illness rather than a death sentence. This is because of new drugs and treatments available.
The severity can vary quite a bit, from asymptomatic to very severe, depending on which mutations they have and what appears to be at this point just plain luck. I’m aware of several cases where kids have been diagnosed with cystic fibrosis, and genetic testing has shown that one of the parents technically had it as well, but didn’t know it. That’s very rare, though. Generally speaking, CF is still an early death sentence. But we’re working on it.
Additionally, symptoms often won’t manifest until late teens, so the fact that you can’t see anything wrong yet doesn’t really mean much. Genetic testing can pick it up before symptoms begin.
Years back, I volunteered at a hospital’s intermediate care nursery, and one infant I had a lot of dealings with had been diagnosed with CF at birth. IIRC, his older brother (3-4 years old) got tested at that point, because as I was told, sometimes there can be milder cases that don’t manifest until much later.
I haven’t thought of that fellow in many years… I should see if I can find anything on him via Google. He’d be in his early 20s now (I hope).
The mutations don’t seem to play nearly as great a role in severity as expected, at least the common ones. I’ve seen two kids from the same parents, both with the same CF genes (Delta F 508 in this case) have incredibly different severities. So “luck” is still a valid operative hypothesis.
Now, the mutation may make more of a difference when it comes to some of the new therapies. With one particular less common mutation, making up less than 10% of the CF patients, the CFTR protein makes it to the cell surface, but doesn’t function. A certain recently discovered drug can activate it and make it work, resulting in normal chloride transport and correction of certain clinical signs.
But with the Delta F 508 mutation (the most common), the CFTR protein never makes it to the cell surface, so it’s suspected (but not thoroughly shown yet) that said drug doesn’t help so much here (dammit).
[Cite: recent presentation by Robert J. Beall, Ph.D., president and CEO of the CF Foundation]
Meanwhile, the combinations of hypertonic nebulized saline, aerosolized & IV antibiotics, aerosolized DNAse, a variety of antiinflammatories, and aggressive pulmonary therapy is extending life, with many CF patients now reaching their 50’s and even 60’s.
Yes, I know a lot about CF. I wish I didn’t need to.
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