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mom2girls
Guest
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!
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!
Would the CF blood mutation analysis show if has CF or is it more detailed testing that would be needed to show it? I feel like I should be able to trust her doctors who say she doesn't have it........ but for I guess I'm not.