cycstic fibrosis - Cystic Fibrosis Message Board

susan mann · 01-27-2003, 09:05 AM

My son had two sweat tests last week both of which were 41/borderline. We are waiting for the results of his genetic testing because he was adopted. I would like to know if his low number of 41/borderline has anything to do with the severity of his disease?
Also he has had respiratory and gi symptoms since early infancy and he's two years and eight months old-
Do you think a couple of years without treatment will jeopardize his ability to get better with enzymes, percussion etc.? We won't get the genetic testing results for three more weeks so any answers to one or both of these questions would be appreciated.

Thanks for your help.

chacha · 01-27-2003, 05:17 PM

Hi, I don't know if I can be of any help but can raise a few questions and offer my experience. My youngest daughter was borderline too but they were able to match her up against her older sister who was diagnosed at age 3, in fact just one week before my youngest was born. Based on the genetec testing they said they were 99% sure she had CF too. So they started her on enzymes right then. Now my oldest had no symptoms at all until about two or so months before our youngest was born. So, we have one that didn't get enzymes for three years and one that started them at just a few days old. As far as the lungs go, she did not start having any problems for another 5 years, one hospitalization and then not another one for another 3. As for our youngest she started treatment from birth but breathing treatments didn't start regularly until just last year,(she's 12 now). I think it's just the difference in the progression for my two. Here's a question if you haven't asked it already. If your son already has GI and respiratory problems, is he seeing a pulmonologist and/or a GI doc? Does he have malabsorbtion or failure to thrive? If so, can the GI doc. put him on some enzymes? If he is seeing a pulmonologist or I guess even a family practice or pediatician, ask if he might benefit from regular albuterol treatment and if percussion would do any harm while you wait the next couple of weeks. I don't know if you already brought up these questions with your sons doctor but it's a suggestion if you haven't thought of it. A couple of the ways to tell if there is or might be a malabsorbtion problem is fatty or greasy stools, really exceptionally smelly, a bloated or extended belly, perhaps even an aversion to certain fatty foods. Our oldest had the extended tummy (could've been a clue).To this day she has a hard time gaining weight(she's 15 now). Was it due to lack of enzymes for three years? We don't know, put most would probably say "yes". As for my youngest, she was tested three times before the age of 2, all borderline, they/we didn't think to test her again until last year, she's 12 now. I hope I've been of some help, if only thoughts to ask your sons doctor. Much luck

susan mann · 01-28-2003, 10:40 PM

Hi Chacha. Thanks so much for your reply. We go to a new GI specialist this Thursday. After I'm sure they will send us to a pulmonologist. I'm actually terrified because my son has had symptoms since the first month. Does this mean his disease has progressed more? as opposed to someone whose symptoms appeared at age 5? Our son is also adopted and we don't know much about his birthfather. I'm just terribly afraid that his disease has progressed so much that it would be hard to help him.
By the way, his stools have always been greasy and really smelly. Does your daughter have anemia also?
My son has had this for years despite iron treatments.

Look forward to hearing from you.
Susan

wrin · 01-29-2003, 07:24 PM

CF is progressive, but for it to be so progressive that a small child would be untreatable? Not likely.

If you're really-truly worried, get your pulmonologist, GP, or friendly neighborhood respiratory therapist to teach you how to do chest physio, since if it's done right, it likely won't do any harm.

chacha · 02-03-2003, 05:36 PM

Hi Susan, My daughter doesn't have anemia. There have been times when I wondered. I don't believe that there could be a progression beyond help. I certainly can understand your fear though. You just want to know so that you can help him. I'm glad that you will be seeing a new GI specialist. I surely hope he/she can be of some help. I know that not just CF patients use enzymes so perhaps he/she can at least get his GI problems under control. With the respiratory problems he has had did he ever see a pulmonologist or just his pediatrician? We are military so I don't know how things work in the civilian world when it comes to seeing a specialist. When my daughter was diagnosed it was really just by chance. Like I mentioned before, she had no real symptoms to speak of, nothing to ring an alarm to the pediatrician anyway. They once thought they heard a wheeze but then dismissed it. What did it was a recurrance of rectal prolapse over about a two month period. Her doctor said, "I don't think that it's CF but lets just cover all the bases because that is one of the signs". When the results came back he couldn't believe it so he sent her to another hospital to have the test redone, they were the same. I don't know, I just would think that if a child is having constant respiratory problems that they would refer them to a pulmonologist. But I am sure you have had those same thoughts. Do you or have you ever looked at his x-rays? Again, another thing I'm not sure civilian docs. do. We have always seen our kids x-rays. If it does turn out that your son has CF, it's a good habit, I think, to get into. Having them tell you what they see, what's what, and getting used to what they look like so when you see them again, and again, you too learn to see the differences. Please let me/us know how your sons appt. goes this week. How is he doing right now? I hope well with no infections.
ChaCha