Question:

My 3 1/2 year old son was diagnosed with CF based a borderline sweat test in the lower 40’s and a genetic test with the most common gene and a very rare gene. He has been totally healthy with average growth. And I should add he is pancreatic sufficient. My question is should the standard approach to CF treatment be used? Or is there a less “aggressive” alternative? I could be more specific if necessary. Thanks.

Answer:

This is an excellent question and one that I think any CF expert may answer differently.  I want to start by stating that you should discuss this with your CF specialist or primary doctor as I am sure he or she will have a good answer as well.

Atypical CF is a term that has become more synonymous with patients who have the genotype (genetic mutations) but very mild symptoms (or no symptoms) related to CF. They may or may not have a positive sweat chloride test. Many, like your child, have a sweat chloride level that falls in a borderline range. Because the symptoms are so mild it, makes it hard to know exactly what to do for the patient.

All CF patients are different and even within the group of atypical CF patients, there are some that need more treatments than others. Many of these patients are pancreatic sufficient and require no enzymes though I would be careful to watch your child’s growth closely as good nutrition appears to be very beneficial in the long run for patients with CF. 

It is hard to say what treatments should be offered as this can be a very individual approach. In my experience at our CF center, we ask to see the atypical patients at least four times yearly to follow their clinical symptoms, pulmonary function testing, cultures, and growth. We follow these patients in a separate clinic so we do not expose them to the bacteria that many typical CF patients harbor in their lungs. Some of these patients require the aggressive treatments (or I should say standard treatments) used daily by the majority of the CF population. There are many we follow who have no symptoms and require no treatment though we still would like to follow them.

My best advice is to speak with your CF specialist and ask this same question as many CF centers are set up to follow the atypical patients as I have described. I am sure you have been on the web to the CF Foundation Website (http://www.cff.org/), but this is an excellent website with the most up-to-date information about CF, CF-related research, and the foundation itself.

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