2 mutations via NBS, negative Sweat Test. Now what?

[lauryn.tubes]

My two month old daughter has two mutations (DF508 and F1052V) that we found via the NBS process. Of course, this was a complete shock to my husband and I. We went to her CF appointment at an accredited CF center for her sweat test. Her results came back at 16. So, i'm confused. I thought this meant that she does not have CF but the CF center wants to continue to track her and her sheet says "diagnosed with CF". Also, the sweat test was just done on one arm, and I'm reading that it should be done on two. Any information on that?

My main question is: Does anyone have any experience with a severe and "mild" mutation combination? If so, did you do proactive treatments and were you happy or not with that decision? Our pulmologist said he would support either case (watchful waiting or proactive).

My daughter doesn't seem to have any symptoms. I'm concerned about her weight gain (she's dropping percentiles...down to 20%) but she could just be a skinny girl.

Thanks in advanced!

 

[Aboveallislove]

Big hugs mom. This must be so hard not knowing what to do. Re the weight issue...have they tested the stool to see if she is malabsorping and thus not pancreatic sufficient? I'd also recommend a repeat on sweat test maybe at another center. I know others have gotten negative even though genetics it is cf I.e.dd508. Not sure if this helps http://www.cftr2.org/printer_friendly.php?option=mutation&mutation_id=129 but has some info on mutation. If it were me, I'd first retest and then I just don't know. If boderline id treat. if not, If doctors know of some with her combo with similar sweat results who later show problems, and do minimal of bronchial dilator, and airway clearance 2x a day and see cf clinic quarterly and do cultures, blood draws and test stools annually. But if none with that combo and sme sweat ave Robles, then I'd wai on see. Augh. I am so sorry. No having an answer r a doctor saying you should do x s o hard! Hugs and prayers

 

[lauryn.tubes]

Thank you so much for the response. It's great to know that there's a middle ground in the treatment options. I'm just at an utter loss for how to feel about all of this. Now, every cough and sneeze concerns me. Her weight gain, for example, wouldn't worry me except now...I'm wondering if there's a CF connection.

Do they repeat sweat tests? And her stool is very mucusy, watery and it glistens a little. Is mucusy normal? My son is 19 months old and I don't remember mucus. Her stool hasn't been tested but I'm going to ask to see GI when we go to clinic next week.

 

[Aboveallislove]

I'd call another CF clinic and request a sweat test for a second opinion and also get their opinion on treatment. The CF clinic should be able to test the stool. What I saw was that her mutation doesn't cause pancreatic insufficiency normally, so it well could be that her stools/weight are not effected even with CF. But I think a stool test would help to know. Also, in the meantime, you can put the stool in the toilet from a few different diapers and see if it sinks or floats. If it floats that is a tell-tale sign that she is malabsorbing.

 

[Ratatosk]

Ditto on getting a second opinion at a cf clinic. Especially with the losing weight and diaper issues. Not all CF clinics are alike. Our local one isn't very proactive, hardly reactive for that matter. They don't encourage CPT, only if a there's a cough and when DS did develop a cough at 2 months due to an upper respiratory infection, they just told me "they cough, it's what they do". Fortunately our cf clinic in the City is much more proactive and treated DS for bronchitis due to an infection he picked during his stay in the NICU.

I'm of the mindset that two mutations = CF. Not mild cf, but CF is CF. So it's important IMO to be proactive in terms of CPT, regular CF appointments, nutrition, culture and blood tests. DS has a different mutation, which does make him pancreatic insufficient. When he was diagnosed mainly due to digestive issues (Meconium ileus), his cf doctor indicated that people wcf are born with normal lungs; however, over time due to infections, extra thick mucus eventually his lungs will be affected. While I was on maternity leave for 12 weeks, we did cpt 4 times a day to get into the habit and to keep ds lungs clear. Despite our being proactive, DS ended up with bronchitis at 2 months and cultured pseudomonas at 3 months. All this before daycare, when he was home alone with me. His stools were always shiny and an orange color. Broke apart easily when in the toilet and would leave an oily ring/residue along the water line of the toilet bowl until we finally got his enzymes and digestive issues resolved.

 

[Aboveallislove]

I too think 2 mutations - CF, and treat proactively. The thing that confuses me, and I'd love clarification is that the John Hopkins site talks about some mutations as "not disease causing" and with that one it "sometimes does and sometimes doesn't" I don't know what the heck that means. Does it mean sometimes positive Sweat Test and sometimes not? If there is history of those exact two mutations in others being "CF" then I say treat proactively (but that too me would be bronchial dialator and chest pt 2x a day, blood, xray, cultures, but not necessarily pulmyzome, hyper-sal. The later two I'd definitely add if it is confirmed.

 

[lauryn.tubes]

Thank you all so much for the responses. I feel much more confident for our appointment next week. What I've gathered, through reading, about f1052v is that some people with it have cf and others do not. But, I don't know the numbers or % (ie 12/20 have it). All I know is 12 have at least that mutation. The data pool is too small to tell me how many have df508 and f1052v. Which is why I'm so incredibly lost.

But I feel a lot better with your responses. To know there's a middle ground in terms of proactive treatment makes this decision a no brainer for me. Just fingers crossed her stool is ok. It is pure liquid so I can't do the water test. 2 out of 12 recorded f1052v patients was pancreas insufficient. Prior to this all happening, I'd say she was fine. However, the odds haven't been in our favor lately )

 

[welshwitch]

Hi! The rule of thumb is that genetic test trumps the sweat test. If she has 2 CF mutations, be proactive and treat her for CF. Sorry to hear about her diagnosis. Sounds like you are doing a great job in really engaging with your daughter's health! Best wishes and good luck to you and your family!

 

[Red9928]

I am 45 y.o. with CF and wasn't diagnosed until I was 40, sweat tests have been negative, but genetic testing confirmed DF508 and a "milder" mutation D1152H. As a newborn I didn't have any specific respiratory/digestive problems (and luckily I continue to be pancreatic sufficient) but when I was about 2 years old I developed pneumonia. I recall being diagnosed as an asthmatic and allergic child but it didn't really explain the multiple respiratory and sinus infections I had throughout my life, including multiple pneumonias resulting in permanent lung damage. I now do daily nebulizer treatments to thin my mucus and every other month nebulized antibiotics to combat the pseudomonas infection that has taken residence in my lungs. BUT I live a very active lifestyle, I work part time and am married with 9 year old twin boys. The technology wasn't available to diagnosis me as a child, but I strongly believe if I had been treated with CF as a child, my lung function would be better (I'm currently at an FEV1 high of 60%), and I wouldn't have bronchiectasis. I guess I'm arguing for being proactive with treatments because prevention is often the first step. Best of luck to you and your family!

 

[lauryn.tubes]

Red9928 - I'm so sorry to hear about your lung function but thank you so much for sharing. We will be doing proactive lung treatment because of the responses here. Thank you for sharing your experience, it's nice to know out daughter can have a very normal life!

 

[Meabtahi]

My little girl is in a similar boat to you. She has two mutations - df508 and a more mild mutation r117h which like yours is sometimes disease causing and sometimes not according to the cf website. It's a hard diagnosis because you feel you are in this never ending gray zone. My little one has gained weight well and was determined to be pancreatic sufficient after stool testing. Her sweat test was borderline at 40/41 and we will retest her next month. Right now, she is not on any treatments. I struggled with this and talked to her pulmonologisot several times but in the end decided to trust my doctor. She is monitored every three months so if anything changes they can put her on meds right away. I thought my doctor was possibly not proactive in treatments but we sadly have good friends who had their son (now 4 months) diagnosed with cf who sees the same dr and he has put him on an aggressive treatment plan so I know that's not the case. They call our daughter crms and basically let her symptoms dictate necessary treatment. Have you learned about crms yet? It seems to becoming more prevelant with nb screens who are picking up kids that never would have been diagnosed years ago. From your description it seems your daughter would likely also fall into this category. In fact, they believe many adults are technically crms but were never diagnosed because they have remained symptom free which makes me hopeful.

I am am sorry about your diagnosis. I know the pain of going through that process and the uncertainty it brings about their future. I know the every cough putting you on edge and causing fear that something more serious is going on. However, I have looked at videos of what a cf cough sounds like and our daughters sounds nothing like that. She coughs once maybe twice a day and it is always dry and normally accompanied by crying or a little reflux. We have tried to live each day as if we have a normal and healthy baby girl until we are either told we need to do otherwise or her symptoms change. Please let me know if you have any other questions. It's always nice to connect with other parents in the same boat who understand.

 

[MHfour]

My son has 2 mutations and was also diagnosed through NBS and came back with a "mild" sweat test. We began treatments at birth, and his sweat test scores have steadily climbed as he's gotten older, and he now tests in the CF range (he's 8). I would definitely go to another CF Care center and have a 2nd sweat test done and a stool test done. Good luck.

 

[MichaelL]

My story is very similar to Red9928. I had multiple sweat tests as a child that showed I did not have CF. I was finally diagnosed at age 34 based on DNA testing. As stated above, the DNA test overrides the sweat test. I was also treated for asthma until my CF diagnosis. Personally, I feel like I had a more normal life because I didn't have to do CF treatments until I was older. That said, I would follow the advise of the CF doctor you're working with in terms of what treatments are appropriate.

 

[rachelh79]

My daughter has two mutations (DF508 and R117H) and her initial sweat test was a borderline 42, so she has a CRMS dx. We are being seen at a CF clinic, doing cultures, X-ray, etc. and at home doing daily salt replacement and CPT. She will have a repeat sweat test next month at 6 months.

 

[hollymae]

My 18month year old was also flagged at the NBS. Testing showed she also has two mutations however also has had 2 negative sweat tests. The second increased but still in the negative zone.
We have been told she possibly has CFMS, but is really irrelevant as she is being regularly seen and checked and we have addressed any cultures with antibiotics and use a nebuliser whenever there are signs of a cold or cough.
So far so good - next step is repeated sweat tests each year and lung function test when she hits school age - plus continuing to see the clinic.