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Makmomma2
10-01-2014, 02:47 PM
So my daughter who has had some symptoms suggestive of Cf but passed the sweat test has had genetic testing done. They tested for 97 mutations and they detected 1 copy of F508del. Should I push for further genetic testing? The message the pediatrician left me made it sound as if they would not pursue it any further. Suggestions appreciated.

Mama2Five
10-01-2014, 03:15 PM
I would. The way that California Newborn Screening works is if they find one of the common 40 mutations in CA, they automatically run a full DNA sequencing which is how they found my newborn's rare mutation, I1366T. Her "common" mutation was DelF508 (or F508del). Are you going to a CF center or just your pediatrician?

Printer
10-01-2014, 03:25 PM
First get a new Pediatrician.

There are almost 2000 known mutations, any two of which will cause CF. Your daughter was tested for 97 of the most common mutations. You do the math.

Your daughter needs to be seen at an Approved Cystic Fibrosis Clinic and be diagnosed by a CF Specialist. He/She will order a sweat test and most likely a FULL CF SEQUENCING.

If you tell me which large city, in PA, that you live near, I will inform you of your nearest Approved CF Clinic.

Good luck.
Bill

Makmomma2
10-01-2014, 03:33 PM
We are currently on our 3rd primary care provider which is a pediatrician. I spoke with her moments ago and she says "we know she doesn't have CF because she passed the sweat chloride test, there really is no need for further testing unless she develops more respiratory symptoms". My response to that was "after some research I have found other parents who claim there children also passed sweat chloride tests but were still found to have 2 mutations" she still insists we wait to see if she develops other symptoms. Current Dx: constipation, FTT, rectal prolapse, chronic nasal drainage and currently being treated for possible pneumonia. Also cultured positive for MRSA in nares and has mild digital clubbing. HX of RSV and GERD.
Unfortunately our insurance requires a referral for specialists

Makmomma2
10-01-2014, 03:37 PM
Printer thank you so much for your response. I live in Lancaster PA. I know Hershey med has an approved CF clinic however I have Geisinger and they will not cover Hershey med center.

I am just so frustrated that these doctors can't understand that I don't want to wait for her condition to worsen before we take action!

Aboveallislove
10-01-2014, 03:41 PM
Omg...until she devlops symptoms...what the heck does she call mrsa and pneumonia. Are you in an HMO and it is an HMO doctor? If so, I'd call the state insurance commission and ask for help in handling the situation, unless you think you can get another doctor who is more educated. You can't just culture mrsa in the nose!

Printer
10-01-2014, 03:57 PM
Ask your PCP for a referral. The sweat test that is given by a local Doctor is not the same sweat test that is administered at a Approved CF Clinic. Any Pediatrician should know that. Tell her that I said that. FYI, I never tested positive on a sweat test, perhaps because of my "mild" mutation.

CHOP is an approved CF Clinic. Call them and tell them your story.

Bill

Makmomma2
10-01-2014, 04:07 PM
I greatly appreciate all the wise advise I am receiving, from the bottom of my heart thank you. I am a firm believer that we should maintain health rather than try to reverse damage. This wait and see does not sit well with me. And thank you Printer, a friends uncle who is a retired pediatrician also recommended CHOP. I think they are next on my list.
Aboveallislove: I'm not sure if they are an HMO doctor but I am on an HMO plan. I was always satisfied with my insurance until we actually needed it... That's my luck I guess!
this is frightening stuff to face and I can only wonder what the doctors plan of action would be if it were her daughter instead of mine with the "minor health concerns" she has had in her 21months of life.

Printer
10-02-2014, 11:03 AM
Makmona2:

There are almost 2000 known mutations and it takes two of these mutations to have CF. 2000 X 2000 = 4,000,000. There are almost four million "strains" of CF. I am 74 years of age (there is a women out here who is 76). Among other things in my life I was a lifeguard, for five years, on a Commonwealth of Massachusetts ocean beach (Civil Service exams required annually). I graduated from college. Granted, I have a "milder mutation but I also have Delta F508.

Growing up, I was the oldest of four (only I have CF), with all of us in grammar school at the same time. Believe me when I tell you, we all shared almost every childhood disease know to man kind, including Scarlet Fever and Whooping Cough.

Your daughter will live a long and productive life.

God Bless you for being a caring Mom and making your child's health so important.

Bill

Ratatosk
10-02-2014, 11:26 AM
Ugh! I hope you get some answers. Until recently our local clinic would refer to the sweat test as "the test for cf" considered it the gold standard. A colleague had a daughter who had digestive issues, clubbing at age 5, developed lung problems, failure to thrive, but was assured didn't have cf because "she passed the test". Time and time again I pointed out that ds passed the sweat test with a normal 32, but genetic screening showed cf.

We were told when DS was diagnosed that they're born with normal lungs; however with infections, extra thick mucus that eventually the lungs would be affected, thus the importance of chest physiotherapy. DS' issues were mainly digestive (needed enzymes) and sinus issues. His baseline was and still is at age 11, no cough.

Makmomma2
10-02-2014, 12:24 PM
Thank you so much Printer and Ratatosk for sharing your experiences with me.

Printer, it is so wonderful to hear the positivity from you, thank you so much. When you turn to the big scary world of the internet for information you of course encounter the negative more often than the positive. I have high hopes for my daughter, she is a feisty girl who has overcome so much already and I can see her living life to the fullest for a long time to come.

Ratatosk, maybe I misunderstand the way this works but I believe from my research they say TYPICALLY double delta F508 causes more severe symptoms? It is so wonderful that your DS is basically symptom free as far as his lungs are concerned. And as far as your colleague, I'm curious, did they ever pursue the genetic testing and is she diagnosed now?

I have been printing information out today to take to the appointment I will be making with my daughters pediatrician. My plan of action is to just insist she make a referral to a CF accredited care center so they can evaluate her and make the call to test further or not. I truly hope they do so either way so we will know for certain what we are dealing with (me being a psycho mom or CF). And most certainly I will be searching for a new pediatrician.

Thank you all & God Bless

Ratatosk
10-02-2014, 01:46 PM
DS was born with a bowel obstruction caused by meconium ileus. As for lung issues. From day one we did chest physiotherapy 4 times a day to keep his lungs clear. Was stressed early on that he can always regain weight and while nutrition is important -- is you loose lung tissue you cannot regain that. He DID culture pseudomonas at three months, but didn't have any symptoms. When he has developed a cough, it was either because he was sick or postnasal drip.

A friend of mine's kids are ddf508. They diagnosed their son thru newborn screening and tested their 3 year old daughter who had never ever been sick, not even an ear infection to rule our cf.... Surprise, she had it, too.

My colleague's daughter was never diagnosed because as parents they were just relieved she didn't have CF because of "the test" (denial?). She eventually was treated similarly to cf patients -- eventually got a vest, iv abx clean outs for two weeks each summer.

Has your daughter been given a fecal fat test to see if she's pancreatic sufficient? IMO I'd be concerned as well because she IS culturing a bug common to cfers. I guess I would indicate to your doctor that something isn't right and to work together to find out what she DOES have?

Makmomma2
10-02-2014, 04:35 PM
Thank you Ratatosk for sharing your stories. So interesting to hear how people discover this illness in so many different ways and at different times in their lives.

We did not have the fecal test done yet. We go for our next Gastro appt this Monday so I may ask about that. I would be happy if we just got the proper treatment even if we never got the diagnosis. As far as the MRSA, who knows maybe she got it from me (I am a nurse in long term care), I'm just curious if she has any other "bugs"- they only cultured for Staph in the nares. I doubt the pediatrician will be interested in culturing without further symptoms. We will see what next week brings.
Heres hoping for the best!

lovemyboy507
10-03-2014, 09:23 AM
I agree call CHOP they were so helpful when we were in the first throws of diagnosis. The number is 2155903749 (this is the CF clinic number) tell them what is going on and I'm pretty sure they will contact your PCP to discuss. Don't wait it out

Makmomma2
10-03-2014, 11:49 AM
Thank you lovemyboy507,
I appreciate the information, I will be giving them a call.
I would love to know your story if you don't mind sharing it with me. I am collecting testimonies and information to present to my pediatrician to try and convince her that peoples experience with CF (as far as obtaining diagnosis, severity of symptoms and treatments) can be so different even when it deals with the same gene combos.

Thank you and take care!

Meabtahi
10-03-2014, 12:28 PM
I'm sorry to hear about the problems with your daughter. As another story to take to your dr my daughter was diagnosed as a newborn with CRMS due to an intermediate sweat test. When they did a full sequencing they found one f508 and a more mild r117h with a 7t variant. Basically they don't know the clinical significance of this second mutation so she is followed by a cf center and they let her symptoms dictate treatment. They repeated the sweat test at 6 months and it came back completely normal. My daughter is completely a symptomatic at the moment so she is not on any meds - however, it is a huge comfort knowing she is followed by the right people and I have the best resources already in place if something develops. But my point is my daughter shows less symptoms then yours, also had a normal sweat test, and still has the two mutations. Knowledge is power with cf and you deserve to know, if for nothing else to put your mind at ease if a second mutation does not show up.

Makmomma2
10-03-2014, 12:54 PM
Meabtahi,
Thank you for sharing. I am so happy to hear that your daughter is doing so well and is able to access proper care if she ever should need it!
I believe the best defense is a good offense, and knowing what we are up against will help us prevent further set backs and maintain the health she does have. I also think if this experience helps our doctor recognize that each patient is an individual in the way they present with a condition, maybe she will be able to help the next family who has a questionable diagnosis like this, more quickly.