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mom2girls
Guest
Very scary......I have a feeling you're right.
Have they checked for PCD (cilia disease)? I had multiple bouts of pneumonia as a child, tested negative for CF sweat test, and was eventually diagnosed with bronchiectasis. Only recently at age 49 did I find out I have PCD. See if they would check her nasal nitric oxide levels to see if they are low. Also there is a consortium of hospitals that is researching idiopathic bronchiectasis and mucociliary disorders. It is head up by UNC and you can contact them for advice.
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mom2girls
Guest
When they did a bronch, they tested for cilia disease, I believe. They said cilia were structurally normal. They couldn't test the function b/c at that hospital they don't have the right equipment to test function. The doctor said that usually the function is normal if structure is normal. Have not checked nasal nitric oxide levels unless they did during the bronch and I missed seeing results. I don't know much about bronchiectasis but assume they would have seen problems on CT or during bronchoscopy.
Thanks!
Thanks!
I had 2 bronchoscopes as a child and they did not see cilia issues. About 17 years ago, I had my sinus cilia tested after sinus surgery. Came back normal. You can have normal cilia structure that will not work in the proper motion. My understanding is that PCD is just now being mapped genetically. I have 2 recessive genes and a couple of other genetic hits.
Bronchiectasis is lung damage that occurs from repeated infection. If you can, check about the nitric oxide test. Most Cfers will have lower numbers and PCD individuals will have even lower. A relatively easy (and I would think inexpensive test) that may give you leverage to get full genetic testing.
Good Luck!
Bronchiectasis is lung damage that occurs from repeated infection. If you can, check about the nitric oxide test. Most Cfers will have lower numbers and PCD individuals will have even lower. A relatively easy (and I would think inexpensive test) that may give you leverage to get full genetic testing.
Good Luck!
I have CF with two mutataions. My daughter CF carrier has worse lungs then me. My daughter has been in limbo for a diagnosis for all 16 of her years. How are your child's lung function test (PFTs)? If the FEv1 is decreasing Inwould continue looking for a name and treatment plan? Definitely do full CF genetic testing with Ambry if you can.
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mom2girls
Guest
So our genetic counselor hasn't gotten back to me yet about my questions. I want to be armed with knowledge when I finally talk to her and go to pulm appt next week. Genetics has requested auth from insurance for Whole Exome Sequencing Trio Analysis. Waiting to see if will be covered. Also waiting on my question....is complete CF testing part of that or is it something different? Do any of you know? I've been trying to look it up but not having luck finding answers but it could be because all of the terminology is still so new to me.
Simba15
Member
Sorry don't have a time to read thru everything. A blood test confirmed CF. Get the blood test - demand it. Sweat test is *not* dependable!I test negative on sweat test and my DNA shows CF. Also, there is a disease similar to CF. I can't think of the name of it. Google "diseases like CF" and you will find it. It was where the hairs inside the airways do not work.
Sweat test is not reliable,i was tested 3 times and result were below border line..even GI problems are less in young age..Which bacteria came in sputum culture. Is it pseudomonas ?IF yes ..it can be cf.
Does she have bloating and frequent stools ??Fatty stools?? you can ask doc to have stool fat test to check if she has enzyme insufficiency.
Genetic test can be done.( though all mutations might not be covered.)
Here in my country there are not much resources and diagnosis is jst done by a cf specialist based on symptoms, so a good cf specialist is necessay
I feel that if you suspect cf you should go to cf center. normal doc cant help
Till then dont weight for diagnosis
you can start with albuterol ..hypertonic saline and pulmozyme.. and chest physiotherapy to clean lungs.. vest and acapella can help..but again there is a correct method to use acapella ..one has to exhale slowly in it
cleaning lungs is important
Coughf wont come out without taking saline or pulmozyme..there is a proper method to bring cough out..that u can learn at cf center..
active breathing technique and autogenic drainage can bring coughf out and can help to ease symptoms..
I suggest you to start cleaning lung by asking your doc abt nebuliser and cf lung cleaning techniques like autogenic drainage
Does she have bloating and frequent stools ??Fatty stools?? you can ask doc to have stool fat test to check if she has enzyme insufficiency.
Genetic test can be done.( though all mutations might not be covered.)
Here in my country there are not much resources and diagnosis is jst done by a cf specialist based on symptoms, so a good cf specialist is necessay
I feel that if you suspect cf you should go to cf center. normal doc cant help
Till then dont weight for diagnosis
you can start with albuterol ..hypertonic saline and pulmozyme.. and chest physiotherapy to clean lungs.. vest and acapella can help..but again there is a correct method to use acapella ..one has to exhale slowly in it
cleaning lungs is important
Coughf wont come out without taking saline or pulmozyme..there is a proper method to bring cough out..that u can learn at cf center..
active breathing technique and autogenic drainage can bring coughf out and can help to ease symptoms..
I suggest you to start cleaning lung by asking your doc abt nebuliser and cf lung cleaning techniques like autogenic drainage
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mom2girls
Guest
Today was frustrating. DD had pulm appt (not CF specialist). I asked about nasal nitric oxide test and she said she can't do it at our hospital. She truly seemed disappointed about that. She said closest to us in Indiana. She said that she is basically treating DD as if she has ciliary dyskinesia (spelling???) with albuterol, advair and acapella. Since she's been doing well, she doesn't feel we need to go out of state for that testing. I asked about CF again saying that I have read a lot about it and found that one can have normal sweat test and still have CF and her response was "that doesn't happen". She also said DDs levels at sweat test weren't even close to borderline...very, very low so she said more than once that she doesn't have CF.
So, I was still hopeful that we'd soon do the whole genome sequencing and get some answers. Well, got home from appts to a message saying that insurance denied request for the testing. I'm waiting for the letter to come to us (hosp called with info from faxed letter) and then see who I contact to dispute this. Beyond frustrated.....
So, I was still hopeful that we'd soon do the whole genome sequencing and get some answers. Well, got home from appts to a message saying that insurance denied request for the testing. I'm waiting for the letter to come to us (hosp called with info from faxed letter) and then see who I contact to dispute this. Beyond frustrated.....
Simba15
Member
I will call it like I see it: ignorant, stupid and egotistical doctor. Ditch this person and find a new doc and a better doc. I test negative on sweat tests and I have CF. Get a DNA blood test - your pediatrician/PCP can order it. Heck any doctor can order it. A GOOD doctor will fight with the insurance company saying the test is needed. The test cost $500 when I had it done - if you can afford it - pay for it yourself. If you do not need a referral, go to Indiana if you have to. Get to the bottom of it. These "doctors" really do a dis-service. What state are you in? Near Rochester, Minn?
Ditto --- We all have had similar experiences or know people who've passed the sweat test with flying colors or have gone to the doctor and been told it's nothing, it's a virus.... Only to find out it is something. Simplistic terms -- you're the "customer", you're paying for that doctor's appointment, you're concerned and looking for answers and if your doctor can't respect that, then you need to find someone whose supportive in helping you find those answers and treat your child's symptoms.
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mom2girls
Guest
I thank all of you. I will get my husband on board and continue working on this. Hubby is hoping ENT is right....his prediction is that she's a very sensitive girl and reacts strongly to things now but will outgrow it. Yeah, sounds good but until that happens, I'm not at ease.
I'll have to come up with someone other than PCP to order the blood test. We're debating switching PCP too...she's fine with the normal health checks and stuff but she got really weird with me after she made a bad call over the phone when she was on-call doc. Won't bore you with details but I ended up bringing DD to see her morning she told me to keep her home--virus. She looked physically ok but had been vomiting at night, fever, cough and found oxygen to be 87. Actually, perhaps this could be the final chance for her to help us.
So, please tell me very specifically what I need to ask for in order to get the full CF sequencing to check for all possible mutations. Do I ask for just that. Pulm said there is blood test that can help identify ciliary dyskinesia. If that's true, maybe could do both at same draw.
I'll have to come up with someone other than PCP to order the blood test. We're debating switching PCP too...she's fine with the normal health checks and stuff but she got really weird with me after she made a bad call over the phone when she was on-call doc. Won't bore you with details but I ended up bringing DD to see her morning she told me to keep her home--virus. She looked physically ok but had been vomiting at night, fever, cough and found oxygen to be 87. Actually, perhaps this could be the final chance for her to help us.
So, please tell me very specifically what I need to ask for in order to get the full CF sequencing to check for all possible mutations. Do I ask for just that. Pulm said there is blood test that can help identify ciliary dyskinesia. If that's true, maybe could do both at same draw.
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mom2girls
Guest
This if from genetic counselor today:
"I will request insurance preauthorization for a multi-gene test panel for genes associated with ciliary dyskinesia. The test panel includes the CFTR gene which is causative of cystic fibrosis. I will let you know once we get a response from insurance. It is very unlikely that Claire would have CF as she has a stone cold normal sweat chloride level. I have no idea if your insurance will cover this test or not."
"I will request insurance preauthorization for a multi-gene test panel for genes associated with ciliary dyskinesia. The test panel includes the CFTR gene which is causative of cystic fibrosis. I will let you know once we get a response from insurance. It is very unlikely that Claire would have CF as she has a stone cold normal sweat chloride level. I have no idea if your insurance will cover this test or not."
Aboveallislove
Super Moderator
"This panel ncludes THE cftr gene that is causative of cystic fibrosis". Ah....which ONE gene would that be honey? Not you the genetic counselor!
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mom2girls
Guest
Right....just ONE gene? As my daughter would say, "seriously?!"
Aboveallislove
Super Moderator
D you have an ob? How about asking your ob to run a pregnancy screen for more common cf mutations for both you and your husband. Most insurance cover that and then if one has a more common matting t might be easier to get little one tested more broadly.