CRMS-diagnosis limbo

[panderson1215]

so we met with our pulmonologist Monday and he has said our baby has CRMS and the next step would be a full genetic sequencing( we know she has one copy of deltaf508 and two intermediate sweat tests but no symptoms) and check ups, then a repeat sweat test at 6 months old. He said he was confident our daughter would be just fine but that we need to monitor her. she was born 8lbs and is now 11lbs.does anyone have experience with CRMS? I would love to hear some experiences. I don't want to get confident and then get bad news and I don't want to not hope for the best.my daughter is 7 weeks old and everything about CRMS and CF is new to us

 

[Beccamom]

You can look on the www.cff.org website and their is information specific to CRMS. It seems that CRMS is a diagnosis used very differently by different CF clinics, although on the cff website it specifies who should have this diagnosis. For the doctors it allows them to feel comfortable billing to the CF diagnostic codes so they get paid and tests and medicine get approved. This diagnosis also gives a lot of range of options. It means that preventative treatment is not started, but it also means that hours of possibly unnecessary treatment are not spent on patients who may not need it.

For me Im diagnosed with CF due to 2 CF causing mutations and treated for CF. My daughter is not diagnosed NOT with CF or CRMS since genetically she is a CF carrier with a normal sweat test, but abnormal nasal potential difference test. Her lung function hit a low of fev1 50% thanks to a pulmonologist thinking outside the box she is treated for CF with a mucus clearance vest, hypertonic saline neb, and antibiotics based on sputum culture not guessing. Her lung function now hovered in the 90s for nearly 2 years and last week with this treatment was fev1 100% for the second time in her life.

in the end if you have a CF team that follows your child regularly and takes your concern seriously with a CRMs diagnosis this is good for your child because if symptoms begin the diagnosis can always change to CF. if no symptoms occur your child may live a medicine free life.


Make sure to push to full CFTR screening and google CFTR2 which is a database with recently updated information regarding which CFTR mutations are disease causing.

Best wishes

so we met with our pulmonologist Monday and he has said our baby has CRMS and the next step would be a full genetic sequencing( we know she has one copy of deltaf508 and two intermediate sweat tests but no symptoms) and check ups, then a repeat sweat test at 6 months old. He said he was confident our daughter would be just fine but that we need to monitor her. she was born 8lbs and is now 11lbs.does anyone have experience with CRMS? I would love to hear some experiences. I don't want to get confident and then get bad news and I don't want to not hope for the best.my daughter is 7 weeks old and everything about CRMS and CF is new to us

 

[julieta79]

Hi...my 8 month old son has CRMS...with two negative sweat tests (20 at 4 weeks old, and 25 at 7 months old)...his one mutation is delF508 and the other one is 5t 12Tg...if your child has a mutation that is not on the Cf pannel, chances are the second mutation is mild. The prognosis is good...but they will follow you in a clinic for a very long time, test you for cultures, and fecal elastase, and a bunch of other tings...It is very stressful...they will watch for symptoms to develop...

My son is asymptomatic, and he gains weight and appears perfectly healthy. He tested positive for Cf bugs in his throat, but these can go to healthy kids as well. Because they don't know for sure whether he is healthy or not, he needs to have a bronchoscopy, which is somewhat invasive and under sedation, and they will check if he has the bacteria in the lungs. In other words, chances are your child will be just fine...but you will have to go trhough bunch of scary tests for few years Grrrrrrrrrrrrrr I HATE IT!!!

 

[John O]

For anyone who is interested in reading in lamens terms about CRMS here read this.

http://m.us.wsj.com/articles/SB10001424052702303755504579206000052566432?mobile=y

I am living proof that you can have an awesome life despite havingCF. I'm married I have a career. We have a miracle daughter. The list goes on an on. If you would like to ask me any questions please do. I love talking to parents of CFers. I also have a blog where you can read about my life living my dreams with cf.

http://livingmydreamswithcf.blogspot.com/?m=1

Take Care

John

 

[HuntersmomTBM]

Yes, my 15 year old son was diagnosed with CRMS last year. He also has Tracheobronchomalacia (floppy airway) with Innominate Artery Compression (an artery near his heart compress' his trachea a bit). He has had 1RSV, 7pneumonia's, 6bronchitis', 15croups and countless URIs. His first Sweat Test when he was 6-7 was borderline @ 40. His second Sweat Test @ 10-11 was 40, blood test was negative. His Genetic Test found No Mutation but positive for Poly T Variant 7T/7T. 7T is suppose to be non-disease causing. But not in his case. The Airway Clearance Vest and HyperTonic have helped keep him ER-free this year. But he does continue to get sick. His PFTs FEV1 average is 92% but his FEF25-75% average is 68-69%. I worry. Some say his mutations are just unknown. I wish I had advise.

 

[Printer]

A FULL CF SEQUENCING is obviously indicated and is the next step. Why are you opposed to this?

Bill