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That's actually what the doctor had thought it was going to be initially - related to reflux. So they had the GI do an endoscopy after the bronch and now I'm thinking it's unlikely that is the issue. He said my son has very very mild reflux. he didn't see much of anything on his scope that...

Thank you for your insight! I am very new to this all and before my son's dx I can say that I really knew nothing about airways/cf/asthma - any of it! So I am behind the curve here. He did have a blood test for allergies including our regional ones (triggered after his 3rd croup - our...

That's exactly it. I know that many people will say that it's not important what it's called as long as issues are being treated but it kind of is important to me. I would like to know if it appears that my child has a progressive disorder VS related but non progressive health issues. It's a...

They did repeat after albuterol. I'm super anxious to know the results because the pulm made it seem like he didn't expect it to go the way it went. The hardest part for me is that he is CRMS - so I'm trying to get a handle on what this means as far as is this indicative of early disease and...

My 17 month old son has a CRMS dx (df508 + a "varying consequence" mutation and negative sweat). We switched clinics about 4 months ago. Our new clinic felt that my son's health history and culture history warranted a bronchoscopy. Last Wednesday he had the bronch as well as an endoscopy and...

Thanks for that info Autumn! That's actually what I have been trying to understand about how cultures might be interpreted with symptoms. My son had another positive culture for A. Baumannii last month and his latest culture from a couple weeks ago is prelimanry for staph again. Our pulm...

Thank you for the thoughtful response! This is a helpful list of questions to have in hand! It reminded me that I also want to ask them about what qualifies as an exacerbation - and whether that is a different threshold that they have for a CRMS patient vs a cf patient . I've done some...

I've posted a few times but the quick background is I have a 15 month old son dx CRMS (one disease cause and one variable mutation). He just switched from one clinic that was being reactive to a more proactive clinic last month. The question I have right now is about throat cultures. He has...

A carrier does not have CF. A CF carrier has one mutation (in your case r117h 7t). In order to have CF a person would have to have 2 mutations. Sounds like your test results indicated that they only found the one and are assumed to be only a carrier, meaning you do not have CF. For example...

Another update: Went to the new clinic today and they feel he would benefit from cpt, abuterol and pulmicort. So we are going from zero treatments to now twice daily. The new pulmonologist believes that his constant respiratory illnesses are being compounded by inflammation and that with...

I feel the same with our current clinic - just anxiety when trying to get a response to anything. And they've really treated me I'm such a way when I voice concerns that it leaves me wondering why my son is being followed at all if all they are going to do is ignore us. The clinic I am...

I wanted to update! His cough never turned croupy - but he continued to get worse. A couple days after this initial post I ended up at urgent care with him as his breathing while he was asleep was around 50 per minute. Urgent care diagnosed an ear infection and did a chest scan because they...

I just wanted to share that my son has 2 mutations and passed his newborn screen (irt was a few numbers below the cutoff) and has had 2 negative sweats (15 at 7 months and then 18 at 1 year) - but we still are followed by a cf clinic. We only know he has the mutations because I was tested...

I have the same concerns about his CRMS dx as you have listed. Our clinic does not do any preventative treatments for CRMS children unless they are symptomatic. The pulm reminds me every time we have a conversation that my son does not have CF (for example she will say things like, "yes he has...

My 1 year old son has a CRMS dx. He just had a clinic appointment a week and a half ago which resulted in a second negative sweat. Our pulm said at the appt that he appears to be healthy - clear lungs etc. She called yesterday to tell me that his culture results came back positive for staph...

I always get curious when I see an older CRMSer. My son will be 1 next week and I can't tell if any of his issues are related or not yet (second mutation is not r117h though - it's g1069r). I'm always interested to see when symptoms presented in others.

Out of curiosity, how/what age were you diagnosed? (If you don't mind sharing?)

My son is also DX CRMS. He has df508 and a mutation of varying consequence - negative sweat at 6 months. He gets another sweat test next month.

Thank you for your reply! I've come across that journal but I think I'm going to have to reread it a few more times too. Had I known that we would be in this position I'd have paid much better attention in all of my science classes lol. One thing that really confuses me about g1069r is that...

I have spent countless hours trying to find anyone with the mutation g1069r. I'm really not expecting that anyone will respond because it just seems to be incredibly rare but figured I'd post anyways just in case. I've found some mention of the mutation in a few studies and listed on some patent...