When (If) did your CRMS turn into CF?

[lauryn.tubes]

I've been wondering this since my daughter was diagnosed with CRMS and after reading hundreds of posts I'm just going to ask:

If your child (or you) was diagnosed with CRMS when did symptoms start to appear if they appeared at all?

Now, I know this varies by mutations and by child and just because your child saw symptoms at 2 years old doesn't mean that my daughter will. I guess I just believe knowledge is power and this is something I would like to know )

Thanks!

 

[Michael Klein]

Hi Lauryn!

So, CRMS doesn't "turn into" CF. CRMS is pretty much just a fancy name for someone who exhibits one, two or various CF symptoms but doesn't have two a classified CF causing mutations (usually it's only one). Of course though your daughter will definitely receive the care she needs depending on clinical observations as well as diagnostic findings. So in a nut shell, when symptoms start to present themselves or what symptoms develop initially depends on genotype, phenotype, and environmental factors. Sorry about the diagnosis :/ Wish you guys the best! I don't personally have CRMS, I have CF, so I'm not really an expert on this...but I couldn't let this guy be left unanswered! Hopefully you can find someone with CRMS to get more specifics - this is just my general understanding of it.

 

[lauryn.tubes]

Hi Michael -
I think there must be two types of CRMS. My daughter has two known disease causing mutations (df508 and a mild f1052v), found via the NBS. However, she hasn't had any symptoms yet. Which is why I'm wondering if there was a magical time period when symptoms started showing up for others in this same boat. Thank you so much for the response. I didn't know that there could be people with CF symptoms but no mutations who also fall into this boat! I learn something new everyday

 

[Michael Klein]

Was your daughter diagnosed at a CF Accredited Center? And was her Sweat Test in the normal or intermediate range? I think why it might be considered CRMS, is because the mutation is not in one of the basic genetic panels for CF which would only screen for 36-106 mutations? I think? Either way, don't get caught up in the classification process - phenotypes and environmental factors are huge contributes to onset. Past the genotypical aspect, classification of CF vs. CRMS depends on various clinical presentations as well - I know there are web pages online that show the actual process of determining CF or CRMS ...I'll check for them and paste the html a bit later once I find them - I think those will shed some light on the questions you're asking.

 

[Mama2Five]

Hi Lauryn!

So, CRMS doesn't "turn into" CF. CRMS is pretty much just a fancy name for someone who exhibits one, two or various CF symptoms but doesn't have two a classified CF causing mutations (usually it's only one).

My daughter was just "diagnosed" with CRMS last week based on her 2 mutations-DelF508 and another of unknown clinical significance (not classified as a CF causing mutation as of yet); but shows absolutely no symptoms.

Just found this-

What is CRMS?


When a person has a sweat test that gives an intermediate (borderline) result or a genetic test that shows only one CF gene, he or she is said to have CFTR-related metabolic syndrome (CRMS).


Your doctor may give you or your child a diagnosis of CRMS if:


The amount of salt in the sweat is higher than it is in most people, but not high enough to confirm a diagnosis of CF. This could mean that you or your child is at higher risk of having problems in the airways and sinuses; the intestines and pancreas; or the reproductive tract.


You or your child has one or two CF gene mutations that don’t show any symptoms of CF, but could mean that you or your child is at higher risk of having problems in the parts of the body often affected by CF.

Hope I don't come off as snooty, just really been investigating like mad the past 2 weeks especially since she was diagnosed with CRMS last week! For us, it's finding out what role her rare mutation plays/will play. Wish there was more info about it out there.

 

[lauryn.tubes]

Hi all -
Yes, my daughter has two mutations that are known to be diseases causing...DF508 and her other mutation (which is mild) causes CF in some patients and not in others (f1052v). She has no symptoms, yet she has two mutations that were found in the basic panel.

I'm in the waiting game. Going to the CF center and getting tracked, and swabbed etc. I realize that this is a new categorization due to the NBS and I feel like there are others who are in a similar situation as I am. I was just wondering if any child was moved over into the CF realm from CRMS and if so - when did the symptoms start occurring. Maybe this categorization is too new and there's not enough children that fall into this situation to answer the question.

Thank you all for the nice responses, I truly appreciate it. Just wondering if and/or when i'll see symptoms if they ever happen

 

[taralmc]

Hi Lauren,

My daughter is in the same category as yours. Labeled "CRMS", she has 2 CF genes - one very common & the other very rare. She has no symptoms and passed the sweat test (when she was a newborn). She is 2 now and still has no symptoms (THANK GOD). We go to St Chris's in Philadelphia & at first we did appointments every 6 months just to make sure no symptoms arose. Now they feel we only need to come once per year. We got a second opinion at CHOP and that doctor said he didn't even think we needed to be followed annually because if my daughter hadn't shown symptoms yet, she wasn't going to. While that was a huge relief, we are still going with the annual check-ups at St Chris's just to be on the safe side. I hope this helps take a little of your anxiety away.

 

[Beccamom]

I have CF but was not diagnosed until age 35. I have one stop codon severe mutation and a mild mutation. I have always had symptoms I did not know were CF. I have chronic sinus infections since I was 2 years old. I have pneumonia at least yearly since my teen years. My experience was that I developed more symptoms after I stopped running. Puberty was tough on my lungs and bed rest with my second child really decreased my lung function. I also culture psuedonomas and have probably had it since the my early 20s based on my lung function drop at that time. I think CF disease prognosis is determined by other non-CFTR genetic mutations, personal fitness level, and environmental factors. That is why no two people with the same mutations have the same disease progression. You have the opportunity to control your child's physical fitness and environment to help keep her healthy. Knowing what you battle is a huge bonus. My 15 year old was misdiagnosed with asthma for 11 years. Her FEV1 hit a low of 50% before she got proper treatment. After two years of vesting, hypersal nebs, and antibiotics based on sputum culture her FEv1 is up in the 90s. She missed half of 6th grade but now enjoys 10th grade. Consider the monitoring with a CRMS diagnosis a blessing. Your child may always be healthy and I hope that is the case, but at least she will never be as sick as my misdiagnosed child before getting treatment.

 

[lauryn.tubes]

Thank you Beccamom and taralmc. That's exactly what I was looking for. Thanks so much!

 

[Beccamom]

Thank God you are being followed at St. Chris. It was a pulminologist at CHOP that let my 15 year old get to a low of FEV1 50%. He was listed on the CHOP website as part of the Cf team at the time, but since that time I believe they no longer list all their pulmonologist's as on the CF team. We traveled to DuPont in DE where they undiagnosed asthma. Her PFTs increase after exercise (after coughing up lots of mucus) and decrease after albuterol by 12%. Now we see an incredible pulminologist at CHOP because DuPont CF team would not see her without 2 CF causing mutations. She still has no diagnosis but is correctly treated. She will be followed by my adult CF team when she is old enough.

Although my daughter and Have had symptoms her big PFT drop was not until puberty started age 11. To think a healthy 2 year old has anything to do with progression of CF is completely ridiculous. Did CHOP do a sedated PFT and bronchoscopy and CT to even know she is healthy. Until a sinus CT that showed completely impacted sinuses with nasal polyps I never knew my daughter ever had a sinus infection. The ENTs theory is she had blocked sinuses since her sinus cavities developed and so she knew no difference as she aged. Now after sinus surgery she can tell if her sinuses are blocked, but I guess you don't know how good you can feel if your norm has never been to feel well.

Good advocating for your child mom. You will always know you did the best for your child no matter the future. I wish you the best for a healthy future.

Hi Lauren,

My daughter is in the same category as yours. Labeled "CRMS", she has 2 CF genes - one very common & the other very rare. She has no symptoms and passed the sweat test (when she was a newborn). She is 2 now and still has no symptoms (THANK GOD). We go to St Chris's in Philadelphia & at first we did appointments every 6 months just to make sure no symptoms arose. Now they feel we only need to come once per year. We got a second opinion at CHOP and that doctor said he didn't even think we needed to be followed annually because if my daughter hadn't shown symptoms yet, she wasn't going to. While that was a huge relief, we are still going with the annual check-ups at St Chris's just to be on the safe side. I hope this helps take a little of your anxiety away.

 

[ByGrace]

My son was diagnosed with CRMS at age 7, with his first symptoms appearing around age 3. They started out being only GI related but he is beginning to develop some sinus issues now (at age 11). His CF doctor has said that she will change his dx from CRMS to CF if he begins to show more symptoms characteristic of CF. If I've understood her correctly, a change in dx will help us to get more help for him that isn't available to us with the CRMS dx.

 

[evarestos]

Hello,
I am 23yrs old, with borderline sweat test and no pathologic mutations after a complete DNA test on both alleles,
I never had health issues and still i am totally fit, my occasion can be characterized as CRMS due to the borderline sweat test.
So to know that you have CRMS helps you to keep a healthy lifestyle.Symptoms and infections that you might experience might not be caused by CRMS,but definatelly you must always be aware of it.
Without being a doctor i can say that CRMS is even something milder than ''mild CF'' and accordind to the therapies in ourdays might give you a normal life expectancy.