Diana Willow,
Here’s hoping your daughter has nothing related to CF. Possibly the neonatal genetic test similar to CF that Aboveallislove is thinking about is, Spink1, a CF like mutation that presents pancreatic, GI and sinus issues identical to CF, leaving the lungs alone.
Welcome to the twilight zone of nebulous medical problems. And to make matters worse, it is your child who may not have the ability to distinguish how she is feeling from how she should be feeling. If I can suggest anything new, it would be to educate yourself on CF. Your first source probably should be CFF.ORG it is concise and reliable information. Some of their information is a little dated and some of it may be just hours old, but most information follows a popular presentation format. Information is given twice or three times, a plain worded explanation is followed by a more technical explanation and so forth. It looks like Wikipedia has information provided by the CFF and might be a more organized format to use. Don’t skip any highlighted terms you don’t know or get the gist of in context.
If your child is just being diagnosed, don’t panic yet. She has made it this far without a medical label and it probably would be good to never have one pinned on her, but late diagnosis of CF eventually has a price. Issues in the lungs and ENT or head infections, asthma and such are akin to a broken bone, the problem is apparent, like you can’t breathe. Malabsorption and malnutrition are not on our well fed radars, but are one of the first terrible things to cause problems. Fat soluble vitamins like AquADEK* would be a good thing to just start giving your child. I use the adult variety but I am certain any of the mothers can give you some specifics on chewables and such.
Everything from osteoporosis, to bad teeth and stunted growth can affect a child who isn’t absorbing proper amounts of vitamins and minerals. In CF, regular vitamins, even large doses of supplementary vitamins will do little good if they aren’t specially formulated for absorption with or without digestive enzymes. All of this is the result of the other mucosal surfaces in the body beyond the lungs and head-ENT (Ears, Nose and Throat).
The wet path from the lips to the rectum is a lining of mucosal skin or epithelia replete with mucus glands, all of which could be producing loads of molasses like mucus. Glands like the pancreas or gallbladder could produce thick unmoving digestive enzymes, bile salts and cholesterol meant for digesting food and vitamins. Sort of like missing a pitch, the ball or food arrives from the stomach only the digestive cocktail in the pancreas and liver swings way too late to meet the incoming food. That thick bile in the liver or goo in the pancreas will eat away at the place it is stuck. If the juices meant to digest a steak don’t make it into the duodenum, eventually the juices will digest the surrounding tissue where it became stuck, usually the pancreas. This can happen fairly quickly or over decades.
Other things like Mucinex should be evaluated by the CF specialist you are currently trying to find. Most CF doctors won’t suggest Mucinex, I am not sure what they advise if your child is already using it. I hate it so much that I probably should say nothing, but hypertonic saline thins mucus for example, and guaifenesin or Mucinex causes the body to make more mucus. If the patient makes normal mucus, thin, voluminous and natural pH, then making more mucus to free the desiccated or infected mucus away from the mucus membrane and flushed by blowing, swallowing it or coughing is great.
In CF, that new mucus may be as thick and worthless as the existing layer in the head, lungs and gut. I don’t take it because it stimulates mucus production also in my pancreas and gut. The mucus that is produced in the gut, especially glands like the pancreas are not particularly visible and describing pancreatitis at five or seven is a challenge. Hoping she doesn’t ever have pancreatitis, you might find a clever way to ask if she ever has back pain, especially between the shoulder blades. The gallbladder and pancreas are sticky organs and a dominant issue in atypical CF, CRMS and many cases of CF considered mild. There are other clues to what might be going on elsewhere in her body, but most people aren’t experts on referred pain.
CFers and the parents of CFers learn that many of the organs and body systems affected by CF don’t have direct reference pain like most of the body that is under conscious control. You smash your thumb and there is no doubt it was your thumb, why does angina, or heart pain show up everywhere but the heart? Embryology plays a large part in where sympathetic pain shows up. The left arm, shoulder and heart all erupt from a spot in the embryonic spine. When this early tissue is forming, nerves also form and never disconnect. Since our heart is an autonomic organ, not under conscious control, pain is not felt in the heart, lungs and so forth but rather some embryonic nerve threads. This can also mean that a heart attack is felt in the back instead of the classic left shoulder and arm, so it is less than exact. For CFers, lung pain beyond the bronchial tubes feels like back or sometimes chest pain when the source could be deep in the lungs.
Once you are under a CF center’s care, the imprecise practice of medicine will clarify a great deal but frustrations are still ahead. Hopefully not, but you need to toss away your understanding of the word “test”. Sweat tests are straight forward and not. Many people who are clinically diagnosed as having CF will repeat a sweat test until it confirms CF. What? Yeah, we aren’t all good sweat-ers, and there are ways to train you child’s body to sweat "better". Any other word but “test” should be applied here, maybe if you go through some of this site’s archives on sweat test dilemma’s people have dealt with you can get a sense of how crazy people get over something that is a note in your chart. It hasn’t been kicked from the Gold Standard status, and in fact if a person can sweat so poorly to be diagnosed with CF, there is virtually no doubt.
Genetic testing has solidified to a large extent for CF. As recently as three years back, I would have suggested it was a waste of time, and I am a geneticist! It was and to a degree still is a dubious test, again, toss that word test, we are far from quantifying and understanding all CFTR mutation alliances but CF has the first honest-to-God genetic drugs, and they work! It may be another two-three years before everybody with any CF mutation will be symptom free or substantially improved, but in fact, the future of CF is now finite, something very close to a miracle.
This forum is a wonderful place to search for answers, educate one’s self and find direction with a CF child. Keep in mind there is a very broad spectrum to CF. There are times when you may use this forum to voice your fears, grieve the losses that CF takes, whether it is 10% of your daughter’s FEV, a ten point jump in her blood sugar. CF is an individual experience and a symptom free parent is lost trying to accurately gauge a child's issues.
Welcome,
LL
*AquADEK is available without prescription found at your CF center’s pharmacy or easily ordered by most pharmacies.
Recently my thoughts have been this: CF changes your life. It gives you a lot of extra things to worry and feel down about but just as many to be happy and delighted about. My friends will never know the excitement of achieving an 85% PFT. They take life for granted, and have regrets. They leave things unsaid. Not me. My life is wonderful. I'm going to WIN. CF can fight me as long and as hard as it likes, but it won't do any good. I'm blessed with the strength and courage it has given me, as well as the best motivational tool in the world. And of course, the low body fat which allows me to be the ****ing tank I am