Doctor declining to dx CF despite sweat chloride

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fel

Guest
I was wondering if any of you have had this issue. One of my sons has had 3 sweat chlorides over 60 with testing at 2 official CF centers. His main doctor, who is the director of a prominent CF center, is declining to dx him with CF and instead has said CRMS because supporting genetics cannot be found. He does have symptoms -- they are mainly in his sinuses with two surgeries in the last year, and he has asthma-like symptoms. I don't know if he cultures anything. Also his brother is diagnosed with CF -- he has very similar sweat chloride scores, and only one CF gene. I have looked up articles on CRMS, and they all define it as people who have genetics but not symptoms -- yet my son has symptoms but not genetics, and a brother with the disorder which suggests hidden genetics.

Any thoughts on this doctor? I really hate to switch centers, but this doctor has me really confused. I have asked for journal articles supporting his diagnosis of CRMS for this profile, and he just ignores the request.
 
B

Beccamom

New member
Are you getting the care you want for your child without a diagnosis? Is this child getting the care outlined by the CFF? I have had a similar debate for the past year or so. I am diagnosed with CF. My daughter is genetically a carrier. Her official diagnosis is COPD Chronic Bronchitis type which I can't find another child diagnosed with. However, she has a mucus clearance vest, does hypersal nebs, has CF sputum cultures, and is followed by a CF pulmonologist who got her FEV1 from a lifetime low of 50% to holding in the 90s. She cultures worst bacteria then I do.

The difference is she got the flu and it took 3 days to get her Tamaflu which was too late and she got a really bad lung infection she was sick fornovern5 weeks. I got sick second, E-mailed my CF tram in the middle of the night had a return E-mail at 6am and started Tamaflu at 10am. I was asked to come in for a sick visit and offered that day or the next.

Over this past year I have gone from mad about no diagnosis when I am arguing with a doctor, ER, or insurance to thankful for no diagnosis hoping this some how helps her future making her eligible for something that a diagnosis would have denied her.

To me a diagnosis is a means to a treatment plan. If your child gets what he needs then don't worry, but if no diagnosis causes less appropriate medical care then switch and get a diagnosis.

best wishes,
Jen


fel said:
I was wondering if any of you have had this issue. One of my sons has had 3 sweat chlorides over 60 with testing at 2 official CF centers. His main doctor, who is the director of a prominent CF center, is declining to dx him with CF and instead has said CRMS because supporting genetics cannot be found. He does have symptoms -- they are mainly in his sinuses with two surgeries in the last year, and he has asthma-like symptoms. I don't know if he cultures anything. Also his brother is diagnosed with CF -- he has very similar sweat chloride scores, and only one CF gene. I have looked up articles on CRMS, and they all define it as people who have genetics but not symptoms -- yet my son has symptoms but not genetics, and a brother with the disorder which suggests hidden genetics.

Any thoughts on this doctor? I really hate to switch centers, but this doctor has me really confused. I have asked for journal articles supporting his diagnosis of CRMS for this profile, and he just ignores the request.
Click to expand...
 
F

fel

Guest
He had full sequencing and only one ambiguous variant was found. Other son also had a full sequencing and only one variant (a different one, nonsense) was found. Both have sweat chlorides in the 60's most of the time (one time in the 70's one time in the 40's).

As for care -- I think he will have trouble getting medical benefits without the dx. I don't think he gets care that is as intensive as my other son.
 
P

Printer

Active member
My advice to you would be, be thankful that your sons don't have CF. Other than that, take both sons to a different Approved CF Center, for a second opinion.

Bill
 
J

Jennyvb17

New member
Assuming both kids have the same parents- wouldn't son 1 and son 2 have to have the same cf genes? One from each parent? Meaning son 2 should have that same variant as son 1, if he has cf
 
F

fel

Guest
Jennyvb17: It is suspected my husband and I BOTH have some unknown genes that affect CFTR production. We are part of a genetics study to look at this.

Printer: I think they do have cf. The older one is diagnosed with CF and is symptomatic, including lung issues and now GI issue. The younger one is not diagnosed but symptomatic. I don't know why i should be thankful that the younger one doesn't have the label if he still has the problems. The lack of a label doesn't take away the risks to his life. We got a second opinion and the other doctor said CF, but she is in another state and not so convenient as a regular provider.

My question is about the obligations of the doctors to actually follow the published protocols. Are doctors free to violate the guidelines published by the CF foundation and the scientific community arbitrarily? I thought the gold standard way of diagnosing was sweat chloride. After all, new genetic markers are being discovered all the time.
 
R

Ratatosk

Administrator
Staff member
Isn't there a nasal differential test that can be done to determine cf? Also, I know Harriet struggled to get treatment, diagnoses for one of her kids... At the very least, I would hope they'd at least be treating the symptoms, running cultures and treating and questionable bugs that might be growing.

Years ago, a colleague of mine's daughter had "interstitial lung disease" -- only test they'd done for her was a sweat test which doctors used to rule out CF. Always had digestive issues/failure to thrive, at age 5 she had clubbing -- she had lung damage and was listed for transplant by the age of 14....
 
2

2005CFmom

Super Moderator
Wow this is a strange situation. Each of your sons has a CF mutation (2 different mutations) and then an unknown mutation. That would mean 3 different mutations in the family, which would mean that either you or your husband also has 2 CF mutations! Do either of you have any symptoms?

It is upsetting to know that your son without the CF "label" isn't getting the kind of care you think he needs. I agree with Beccamom, if he were getting the treatment it wouldn't matter what they called it. But it seems with your doctor you need to have the label.
 
F

fel

Guest
To answer your questions -- both my husband and I have high normal sweat chloride (in the 30's). I have some sinus issues (polyps, constant sinus infections) -- and lung issues (asthma), but with good lung functioning. It is suspected I get mucous plugs as I have sharp lung pains with exercise-- so I am seen at a CF center. They take care of me great despite no diagnosis. But unlike my sons I don't need expensive equipment like a vest or CPAP. My husband has sinus congestion but is otherwise healthy. Before my kids had the positive sweat tests, no one could figure out what was wrong with me, so this revealation actually improved my health quite a bit. Before that they thought my chest pains were heart problems.

I understand this is a very bizarre situation genetically. I don't know what else to say -- I have pursued all avenues to find out what is going on. Next is full genome sequencing.

I do think that if doctors choose to exclude symptomatic people based on genetics, that will interfere with discovering new genetic markers. Just something to consider.
 
S

stephen

Guest
fel;

According to a presentation "Roadmap to a Cure" which can be found on the Cystic Fibrosis Foundation website, "Genetic testing is available free of charge to all US patients with CF who do not have 2 identified mutations".

The link to the presentation:
http://www.streamcrate.com/CFFWebcast/ResearchUpdate/

Information pertaining to the genetic testing can be found at time 17:30 in the presentation.


 
2

2005CFmom

Super Moderator
fel,

I think there are more bizarre situation out there than most doctors are willing to acknowledge. I don't think it would be odd for you to be diagnosed late with mild symptoms. We went down that road with my husband after my daughters diagnosis.

He had been through the allergy/asthma testing and were never satisfied with any of the conclusions/treatments. He had polyps removed from his sinuses (basically he entire sinus cavity was full of polyps). And just some odd characteristics (CF characteristics) in my daughter we pushed aside because that was how my husband was when he was younger.

He underwent CF testing: normal sweat chloride in the high teens and Ambry full genetic screening showed only a carrier. Even the full genetic screening is not 100%. It is my understanding that there is still part of the gene that cannot be sequenced so this test is thought identify 97-99% of CF mutations. A CT scan did show he had developed bronchiectasis in his lungs.

We were lucky enough that his doctor agreed that his symptoms were likely CF related (whether through an unfound mutation or symptomatic CF carrier). Although my husband is not seen at a CF center his doctor did send him to one for consultation. They decided to put my husband on a CF care regime, including ordering him a vest machine. So beside the enzymes, my husband does the same treatments as my daughter with CF although he does not have a CF diagnosis.

Unfortunately my husband had to switch jobs and his doctor is not on the new insurance plan. If we can't get things worked out with the new doctor we may have to drop work coverage and sign up through Obama care. But we are going to stick it out through this year and see how it goes. But I feel you frustration with doctors. I think sometimes they want to rely on the test too much and ignore the actual symptoms.

Best of luck in getting the care for your son that he needs.
 
2

2roses

New member
2005CFmom,
Please research dropping your husband's insurance as I'm pretty sure that if his workplace offers insurance, you cannot qualify for obamacare.
 
2

2005CFmom

Super Moderator
2roses, Thanks for thinking about that but we have checked into that. We would have to sign up during the open enrollment period, and we can get coverage but we would not qualify for any subsidies (even if income is within the limit). So my daughter and I signed up for it starting this January and received coverage but my husband stayed with his employer because the pay 100% of his premium (only a small portion of family coverage is paid by his employer).
 
F

fel

Guest
Stephen,

We did get sequenced -- me and my two sons -- and it came out that each of us only have one variant -- the one I have along with younger son is the ambiguous one, and older son has the nonsense mutation. Now we are part of another study to sequence the entire genome.

CFmom-- yes maybe I am like your husband. I was told I may have bronchiectasis but the treatment would be the same either way. I hope the insurance works out for your husband -- I find it very helpful to be seen at the CF center. Everywhere else they are always slow to give me antibiotics or to up my steroid inhalers, and at the CF they understand the need to be proactive.

btw: I am seen at the adult center, not the same place as my child is seen.
 
L

Lilliansmom

New member
Both of my kids have high sweat tests, yet only 1 identified mutation. Both carry a CRMS dx, but are treated as if it is CF. They both use the vest, neb hyper sal, DS is on super long courses of antibiotics, they are seen in clinic every 3 months, and are on precautions at our clinic. Their lung function has improved greatly since starting treatment. I don't care so much about the dx since they are getting treatment. Good luck.
 
F

fel

Guest
Lilliansmom, I saw your story on the forums and it looks similar to ours, except my son's sweat chlorides are over that threshold and your sons are borderline. I think there is a real danger in not having the dx -- for one thing it can matter for medical entitlement eligibilities. It sounds like your children were at first not properly treated because they did not have the clear diagnosis. They may have the proper treatment now, but when they grow up and move out of the house, the next CF center they run into might just treat them like a standard CRMS patient. For example, if my older son (the one who is seen at the adult center) has an issue he gets a response and/or appt in a day. For my younger son it takes 2 months to get an appt.

Per the peer reviewed research literature, CRMS is really only supposed to apply to people who have the genetics for CF but NOT the symptoms. That means there are people with CRMS who are completely asymptomatic. In those cases, the standard protocol is to retest once a year. So, CRMS is not a diagnosis meant for individuals who actively have CF type symptoms.

Btw:you may want to get your children involved in the atypical CF study going on at Hopkins. Call up the CF Foundation for more details.
 
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