21 months - chronic respiratory issues and loose/fatty stools - CF or not?

[sstewart]

Hello all,

Thank you for reading my post. Next week, my husband and I are taking our 21 month old son for a sweat test. I have researched his symptoms extensively and can't figure out whether, overall, his symptoms suggest CF or not. Facts are as follows:

• Very active. Seems happy and healthy, despite the respiratory issues mentioned below.
• 85th percentile for height
• Consistently at the 75th percentile for weight since birth
• Not at all salty that we can tell
• For the first full year of his life, and intermittently since then, he has suffered from a string of respiratory infections and was hospitalized for one day during a nasty bout of RSV. I took him to the pediatrician probably 10 times, and always heard the same thing - all kids in daycare get sick a lot. All the while, I felt that his respiratory issues seemed abnormal compared to my friends' children, but the doctor(s) never once mentioned CF and always said that his lungs sounded clear.
• Recurring ear infections (better since he got tubes implanted)
• Recurring eye drainage (tear duct surgery twice, and still some issues)
• He still has frequent (3x per day) loose stools (mashed potato consistency with some liquid). The doctor recently performed a stool analysis and found high fat content in his stool. This is what prompted the upcoming sweat test. His stools do not, however, seem to be excessively foul smelling or oily.

I am keeping my fingers crossed for some sort of lactose or gluten intolerance, but I am not sure what to make of the respiratory and stool symptoms. I hope that the collective bank of knowledge on this site will provide some answers. If I receive any responses, I'll let you know what happens after the test. Thank you for taking time to respond. S

 

[Aboveallislove]

Dear Mom,

I'm so sorry for your worry. From what you write, there is enough to explore but not enough to feel that it is a sure thing. I know that doesn't help but what I hope might is that if he does have CF, it would likely involve a mutation that has some residual CFTR function (since his weight is pretty high), meaning that a drug called Kalydeco could help. One thing you might consider doing is checking how long it takes his fingers to wrinkle during the bath. It isn't true with all, but with CF, they have extreme wrinkling very quickly, like less than 3 minutes. Our son is a prune within 60 seconds on feet and hands. I don't write this to make you worry, but I would want to know it during the wait. Also, you might ask your OB to do a CF screen on you and your husband which could tell you both if you are carriers for some of the common mutations and if they order it stat you might know that before the sweat test, or if not, within a few days. That won't be definite b/c it is only about 6 mutations but will give you some idea. Finally, I know how hard this wait is,having done with our newborn (who will be 4 soon!). And please know that right now CF is very close to a real treatment that will make this disease totally different from anything you read. If you have any questions, let me know. Take care and know of prayers.

 

[sstewart]

Thank you so much for responding. I appreciate hearing your opinion and, in particular, your suggestions for other formal and informal diagnostic testing in the mean time. We have five days until the test and that seems like an eternity. I will give an update when I know something.

 

[Aboveallislove]

Hang in there dear mom. I know how horrible those 5 days were. But even worst case scenerio that he has CF, CF is now a different disease with Kalydeco and the next generation drugs so close.
Hugs and prayers,
Love