Cystic Fibrosis symptoms?!
Question: Cystic Fibrosis symptoms!?
My daughter has had a chronic cough since January, she's now almost 15 months old!. We've had countless trips to emerg, walk-in clinics, and we are currently on our second pediatrician, who now thinks she may have asthma!. Having severe asthma myself, I realize that she has a good chance of developing asthma, but her symptoms really don't appear to be asthma symptoms, and she has no allergic reaction - other than coughing - to our cats and dog (no sneezing, runny nose or itchy, watery eyes)!. She coughs more at night!. Anyway, our first pediatrician conducted a sweat conductivity test to rule out Cystic Fibrosis!. Although we were told that the test was negative, we just found out from our new ped that it was actually borderline with a level of 46 (one of the many reasons for the second opinion!)!. What are other symptoms of CF!? She has a very rattly chest, especially after eating, and has the chronic cough!.Www@Answer-Health@Com
Answers:
Hi Karla! I noticed you posted a question in two different areas so I will only answer one!.!.!. Coming from a mommy of a CF baby, I can completely understand your frustration and your anxiety!. Not to mention wanting to know the answer for sure! One way or another, it's easier to know!.
My son is about the same age as your daughter- he is 16 months old!. He was diagnosed through Newborn Screening for Metabolic Disorders (which is routine and state-mandated in Colorado)!. It was his IRT levels that tipped off the Pediatrician!. We did a second blood test, which had even higher IRT levels, and then were sent for a diagnostic sweat test (when he was about 3 weeks old)!. His sweat test result was 100!. A definite positive result!. The borderline The ranges for the results of the sweat test are 0-39 negative, 40-60 borderline, 60+ positive!. 46 is right in the middle of the borderline range so I'd absolutely recommend a follow-up test!. Something could have happened during the test (inadequate amount of sweat to test, contamination) that affected the results!. If the result comes back borderline again, it should signal your Pediatrician to run a Genetic Panel searching for CF mutations!. This is usually conducted by Ambry Genetics!.
Now, to address the symptoms!.!.!. you have to remember first and foremost, that CF is a PROGRESSIVE disease which means that any child born with the disease will not exhibit ALL symptoms from day one!. As the organs become damaged (pancreas, liver, kidneys, LUNGS), the child will show more symptoms at a greater severity!. Secondly, there are THOUSANDS of mutations that cause CF!. There is absolutely NO way to tell what symptoms or level of severity each person will have with the disease!. In fact, it is entirely possible that you could have a room full of 50 people with the same mutations and they might even have differing symptoms and severity!. There are a few "knowns" in CF!. Certain mutations are associated with pancreatic insufficiency, some are not!. Some mutations are associated with minimal respiratory symptoms, some are not!. It is completely feasible to think that IF your daughter does have CF, she might have a mutation associated with pancreatic SUFFICIENCY- meaning that she would NOT need enzymes to break down her food because her pancreas is functioning correctly!. My son has the most common mutation, Delta F508, actually thought to have some of the most severe symptoms of CF!. His pancreas does not work and he does take enzymes but he does NOT exhibit many respiratory symptoms and has never cultured a bacteria, with the exception of RSV (which he actually recovered from without any symptoms)!. Also, he has not suffered from malnutrition or even struggling with weight gain!. He is currently 25!.2 lbs at 16 months old!.!.!. which puts him somewhere around the 50th percentile, or about average!.
Bottom line!.!.!. I think that it would be very, very important to follow up that sweat test, if for no other reason than to rule out CF!. If she does have it and they treat her symptoms as Asthma, that could be MUCH more detrimental to her future health!. It is imperative that ANY child who has CF be treated and routinely followed by a Pediatric Pulmonologist (among other Specialists) and follow a specific diet/medication regimen!.
Oh, and to answer your other question about how it's possible that she could have CF when there's no evidence in either your husband or your family lines!? Neither my husband or I had ever even HEARD of CF before our son was diagnosed!. We also had no traces of the disease (other than us both being carriers, obviously)!. That in itself could be another way to rule out the disease- if her sweat test is borderline again, have yourself and your husband tested for carrier status!. If BOTH of you are not carriers, she couldn't possibly have CF since it is a recessive genetic disease- meaning she would need a mutated copy from EACH of you, not just one of you!.
Good luck to you! Crossing my fingers for a negative result!Www@Answer-Health@Com
My son is about the same age as your daughter- he is 16 months old!. He was diagnosed through Newborn Screening for Metabolic Disorders (which is routine and state-mandated in Colorado)!. It was his IRT levels that tipped off the Pediatrician!. We did a second blood test, which had even higher IRT levels, and then were sent for a diagnostic sweat test (when he was about 3 weeks old)!. His sweat test result was 100!. A definite positive result!. The borderline The ranges for the results of the sweat test are 0-39 negative, 40-60 borderline, 60+ positive!. 46 is right in the middle of the borderline range so I'd absolutely recommend a follow-up test!. Something could have happened during the test (inadequate amount of sweat to test, contamination) that affected the results!. If the result comes back borderline again, it should signal your Pediatrician to run a Genetic Panel searching for CF mutations!. This is usually conducted by Ambry Genetics!.
Now, to address the symptoms!.!.!. you have to remember first and foremost, that CF is a PROGRESSIVE disease which means that any child born with the disease will not exhibit ALL symptoms from day one!. As the organs become damaged (pancreas, liver, kidneys, LUNGS), the child will show more symptoms at a greater severity!. Secondly, there are THOUSANDS of mutations that cause CF!. There is absolutely NO way to tell what symptoms or level of severity each person will have with the disease!. In fact, it is entirely possible that you could have a room full of 50 people with the same mutations and they might even have differing symptoms and severity!. There are a few "knowns" in CF!. Certain mutations are associated with pancreatic insufficiency, some are not!. Some mutations are associated with minimal respiratory symptoms, some are not!. It is completely feasible to think that IF your daughter does have CF, she might have a mutation associated with pancreatic SUFFICIENCY- meaning that she would NOT need enzymes to break down her food because her pancreas is functioning correctly!. My son has the most common mutation, Delta F508, actually thought to have some of the most severe symptoms of CF!. His pancreas does not work and he does take enzymes but he does NOT exhibit many respiratory symptoms and has never cultured a bacteria, with the exception of RSV (which he actually recovered from without any symptoms)!. Also, he has not suffered from malnutrition or even struggling with weight gain!. He is currently 25!.2 lbs at 16 months old!.!.!. which puts him somewhere around the 50th percentile, or about average!.
Bottom line!.!.!. I think that it would be very, very important to follow up that sweat test, if for no other reason than to rule out CF!. If she does have it and they treat her symptoms as Asthma, that could be MUCH more detrimental to her future health!. It is imperative that ANY child who has CF be treated and routinely followed by a Pediatric Pulmonologist (among other Specialists) and follow a specific diet/medication regimen!.
Oh, and to answer your other question about how it's possible that she could have CF when there's no evidence in either your husband or your family lines!? Neither my husband or I had ever even HEARD of CF before our son was diagnosed!. We also had no traces of the disease (other than us both being carriers, obviously)!. That in itself could be another way to rule out the disease- if her sweat test is borderline again, have yourself and your husband tested for carrier status!. If BOTH of you are not carriers, she couldn't possibly have CF since it is a recessive genetic disease- meaning she would need a mutated copy from EACH of you, not just one of you!.
Good luck to you! Crossing my fingers for a negative result!Www@Answer-Health@Com
You may perhaps get her motion examined and dewormise the child under medical supervision!.Www@Answer-Health@Com
Hi, Karla, you've gotten some very good answers already!. Follow up on that sweat chloride test!.
Because there are over 1500 known mutations of the CFTR gene, it is entirely possible that your daughter has pulmonary symptoms only, or that her gastrointestinal symptoms are mild (if she had CF, that is)!. I work in a CF clinic and I know a patient who has the most common CF mutation (delta F508) and his only symptom is nasal polyps!.
But the only way to know is to get a follow up test!. If the second test is borderline, then there's genetic testing to do, which will be definitive!.
If your daughter does have CF, she will still be able to live a long and healthy life, as long as she (and you) do all the treatments needed!.Www@Answer-Health@Com
Because there are over 1500 known mutations of the CFTR gene, it is entirely possible that your daughter has pulmonary symptoms only, or that her gastrointestinal symptoms are mild (if she had CF, that is)!. I work in a CF clinic and I know a patient who has the most common CF mutation (delta F508) and his only symptom is nasal polyps!.
But the only way to know is to get a follow up test!. If the second test is borderline, then there's genetic testing to do, which will be definitive!.
If your daughter does have CF, she will still be able to live a long and healthy life, as long as she (and you) do all the treatments needed!.Www@Answer-Health@Com
Generally speaking, a positive sweat chloride test is distinguished by a reading of > 60 mEq/L!. CF has both pulmonary and digestive symptoms, however the pulmonary symptoms are often more pronounced!. In the pulmonary system, excessive mucus is the hallmark of CF!.
I would get another sweat chloride test!. A level of 46 mEq/L is above normal (10 - 35 mEq/L), but is technically not a "positive" sweat chloride test (this is where the discrepancy between the 2 pediatricians is most likely arising)!.
The good news is that we have come a long way in the treatment of CF!. CF patients are living much longer than they ever used to, and establishing an early diagnosis and treatment plan predicts better success!.
For your own peace of mind, I would consider consulting a specialist (perhaps a pediatric pulmonologist) and having another sweat chloride test performed!.Www@Answer-Health@Com
I would get another sweat chloride test!. A level of 46 mEq/L is above normal (10 - 35 mEq/L), but is technically not a "positive" sweat chloride test (this is where the discrepancy between the 2 pediatricians is most likely arising)!.
The good news is that we have come a long way in the treatment of CF!. CF patients are living much longer than they ever used to, and establishing an early diagnosis and treatment plan predicts better success!.
For your own peace of mind, I would consider consulting a specialist (perhaps a pediatric pulmonologist) and having another sweat chloride test performed!.Www@Answer-Health@Com
It sounds exactly what my nephew had for the longest time!. They also said it was Cystic Fibrosis!. It turned out to be RSV!. Respiratory Syncytial Virus Infection!. I would have them check the baby out because its very contagious amongst kids!. My nephew had it for at least 4 months before they figured out what it was!. it usually only last about a week or two, but I have seen it last months!. Here are the symptoms of Cystic Frosis from Mayo Clinic!.
Signs and symptoms in newborns ( CF)
In some newborns, the first sign may be a blockage of their intestines (meconium ileus)!. This occurs when meconium
Signs and symptoms in newborns ( CF)
In some newborns, the first sign may be a blockage of their intestines (meconium ileus)!. This occurs when meconium
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