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Hi! My son has a CRMS dx. He just turned 5. We are still pretty grey. He goes to clinic every 3 months and ENT every 6. He has some milder issues but so far nothing that makes them want to change his diagnosis. His sweats are still negative. We are just plugging along. If you aren't already in...

I would think it's because they have research that indicates neither of those genes disrupt the cftr channel individually enough to result in CF but they likely don't have any information on whether those 2 in combination with a disease causing mutation on the other allele cause disease.

Hi everyone! I'm wondering if anyone has any ideas about this. My 4.5 year old has a CRMS dx (1 classic CF mutation, 1 rare variable mutation, low sweat score). About 5-6 months ago I started noticing that he has a pretty prominent tracheal tug from the simplest things like talking more than...

No experience with r334q but my son has df508 plus a varying consequence mutation (which I believe r334q also is) and he is also dx crms. He's 4 now and we still are living in diagnostic limbo.

My son has low sweats and 2 mutations. His diagnosis is CRMS though and not CF since his sweat is so low. While it is possible to have the genetics even with a negative sweat, USUALLY (and there are always some exceptions but almost always) a sweat that low wouldn't be associated with pancreatic...

Wanted to check back - How'd the sweat test go?

Ah what a shake up. You know, the thing to focus on is that IF he has CF, he's always had it. So the results are not changing anything but your awareness. All this time while you were trying to treat other symptoms they were really were missing the true cause of the problems. If the diagnosis...

My son has had 5. They have all been within 10 points of each other. The second one was a few points higher than his first but then the 3rd was actually his lowest and the 4th was a little higher than the 3rd and 5th a little higher than the 4th (but still lower than the first 2!) I have heard...

Thank you for updating! I find your situation to be very interesting since you have the same mutations as my son. I have to imagine there must be other genetic modifiers at play for G1069R to result in disease. Will they be monitoring you moving forward or are they confident at this point you...

Staphylococcus Aureus is an incredibly common thing to show up on a throat culture. Usually clinics don't treat unless they feel the person is symptomatic. Even a large amount of people without CF carry staph so nothing to be overly alarmed about. If they feel he IS symptomatic they may...

A lot will probably come down to the genetics panel. I'm sorry they can't do the full panel straight away but hang in there. Hopefully there will be answers soon. CRMS kids do stay under clinic care as well - and yes, they typically are seen 1-2 times a year minimum (that's if there are no...

Couple things. First is that with PFTs, remember there is a learning curve and if this was his first time then I wouldn't be surprised if those scores were low estimates. The number that people use when they are referring to their lung function is going to be FEV1 so that's the one that you...

5t can be disease causing when paired with a CF causing mutation. It's a complicated one. Have you looked at CFTR2.org? You'll see that the 5t variant is influenced by the TG - in your case that appears to be 12TG. There are a lot of articles about this variant out there as well at 5t is...

Next step is Genetics for sure. My son has two mutations but a low sweat test (negative actually!) and has a diagnosis of CRMS. We found out I was a carrier when I was pregnant with him. At that time they had my husband tested and he also acme back as a carrier. I did my homework and realized...

How did the CT go? Hopefully no news was good news! We talked briefly as my son has the same mutations as you, OP. I'm curious if you have had sinus issues? We go to ENT next month but his pulmonary at his last clinic visit believes he has nasal polyps.

Oh I am so sorry! I never was notified that you messaged me. We have a CRMS group on Facebook if you are interested? Honestly it gets better! It's hard in the beginning because you are always looking for signs but eventually it becomes a new normal and it's not as overwhelming. You really...

CRMS is essentially a gray diagnosis given when not all criteria is met for a CF diagnosis yet there is cause to still monitor. Most of the time children with a CRMS diagnosis have a positive newborn screening which leads to further investigation. And usually they have a disease causing mutation...

FYI! G1069R was just approved for Kalydaco. If you have any health concerns pop up you should talk to your team!

Hi there! I have a child with a CRMS diagnosis. Do you mind sharing what mutations your child has?

My 2.5 year old son has a CRMS diagnosis (CFTR Related Metabolic Syndrome). He has 2 mutations. Df508 which is clearly disease causing and G1069R which falls into the mutation of varying consequence category. He has low sweats but is seen at a CF clinic for monitoring. He had a bronch and...