So confused....no diagnosis...stop looking?

Kristan

New member
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.
 

Kristan

New member
Also wanted to include...definitely do not stop looking! So much new information coming to light and it is best to fit the pieces together as soon as possible.
 
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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!
 

Kristan

New member
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!
 

Beccamom

New member
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.
Looking for confirmation my 8 year old daughter doesn't have cf. Wondering what is going on. Has environmental allergies (as shown on skin tests 2x). Diagnosed with asthma 2 yrs ago due to cough...no wheeze ever. Last school year had bacterial pneumonia in Sept (x-ray at er) and bacterial pneumonia in May (2 night hosp stay). Possible pneumonia in mid June...treated but no x-ray. In past has seen GI for possible reflux and genetics b/c she didn't sweat. Sweating has slowly started and they think possible connective tissue disorder.
Recurrent pneumonias have lead to numerous tests. She's been doing really well since increasing her advair....hardly any cough ever and much less wet/gunkiness in voice on daily basis.
She's had CT of lungs...clear. Sweat chloride test...low and not even close to borderline. Tested for trachea-esophageal fistula...clear. Swallow study...saw some liquids slow to clear but weren't worried. Scope at ENT...saw secretions around vocal cords but otherwise looked good. GI and pulm did scopes together....endoscopy normal--no signs of reflux or food allergies/celiac, pulm saw a lot of thick, sticky mucus and scope kept getting stuck in mucus. Cilia structually good (couldn't test fuction at this hosp). Found some bacteria or something likely from nose. Did methacholine challenge and found no asthma but lowish oxygen at the appt. During all of this, she had no symptoms. No symptoms but full of mucus and low-ish oxygen. So, giving 3 week course of strong antibiotic. If she has no symptoms but has all of this mucus and stuff during scope how do we know if it's always there and when it may become a problem again? She's taking allegra, singulair, flonase, advair, albuterol as needed and recently started using acapella (do huff coughs but not making her cough at all and doesn't sound gunky).
When do you stop looking and think maybe it was just a rough year? Or, do we owe it to our child to keep pursuing this? I hate putting her through all of these tests if there isn't anything to be found, but what if there is something? A friend told me how rarely people can have cf with normal sweat test. DDs pulm said we know she doesn't have cf. Her geneticist said her weight is good...sure doesn't look like cf. Yes, her weight has always been solid around 50%ile. Used to be 90 for height but now down to around 30%ile. After all of this testing, geneticist said they'll see if our insurance covers whole exome sequencing and then we can talk about possibly doing that. Wondering if that diagnoses that rare form of cf.
I guess main questions are, would you stop digging and enjoy her being asymptomatic right now? Anything jump out as being odd and that should be looked at further?
Thank you!
 

Ank

New member
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
 
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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.....
 

Ank

New member
go to cf center..normal plum will nvr b able to help a cf patients..you can ask ppl here which cf center is best in your country.
 

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?

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.....
 

Printer

Active member
Simba15:

Perfectly stated. We both have dealt with this type of Doctor and truly the world is full of them.

Bill
 

Ratatosk

Administrator
Staff member
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.
 
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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."
 

Ratatosk

Administrator
Staff member
I would also ask that they run a sputum test to see if she's culturing any common CF bugs -- have them run a "CF Culture".
 

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.
 
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