the Dr says not cf.

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tazgc1961

New member
The Dr says my daughter has 2 mutations on the CFTR gene doesn't have cf she has no real pulmonary. Issues but many gi.problems
she just spent 35 days in the hospital with her 7 th bout of pancreatitis in the last 2 years. Is it always necessary to have the pulmonary.
Problems she or can you just have the gi or vice versa.any input would be appreciated. I AM trying to figure out if I should take her to a. C F
center for further input from the C F docs
Thanks for any input would.
 
J

jbrandyn

New member
Find a CF doc, gi issues are often the first to present depending on the mutation. It sounds like this doc should refer you to a CF center and if he doesn't then it would be good to call a CF center or the patient advocate/ social worker at the hospital and demand a second opinion. Personally I did not have immediate pulmonary problems until I was 14 and even then my gi problems were the main concern. GI problems are also very very quick and dangerous to mess around with when compared to most pulmonary problems which take a while to get bad. If she were to get even a partial bowel obstruction, which are common in CF, it could be dangerous if not handled well, possibly leading to worse CF pulmonary problems as a complication (been there done that and I do not recommend it)

If you see her problems coming again it might be best to get to a hospital with a CF center's emergency room, if it is safe to travel to it. Or to be transferred to one if she can be.

Sorry if I sound overenthusiastic about this, but the odds of being a carrier (not having CF, but having a mutation on one chromosome) with 2 mutations is microscopic, not to mention that you or her father would have the same problem. Quite honestly the fact that a doc would posit that is grounds to find another doc and report this one to their boss or to the AMA so it doesn't happen to someone else.

I really really really hope you find a good CF doctor so she can get better. The CF foundation website has a lot of resources and people you could call for more direct help. Alternatively you should be able to call 211 and ask if your community has any patient advocates/ medical social workers not affiliated with the hospital she is at (211 is a nationwide information and refferal line for social services).

Good luck and best wishes!
 
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tgdelaney

Guest
I would absolutely take her to a CF center for evaluation. A Pediatrician or GP can be great, but CF diagnosis and treatment requires very speicialized knowledge and a high degree of background training.

I have primarily pulmonary issues, but virtually NO digestive issues - but one doctor finally gave me a sweat-chloride test "just in case." He's saved my life -- so get to a clinic!! The best they can say is your child doesn't have the disease. And they are also best equipped to treat her specific problems if she does have the disease.

t
 
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tazgc1961

New member
Thanks everyone.
I am currently looking into having my daughter seen by the CF team at AI dupont Hospital in Wilmington DE.
as she currently sees 5 other specialists there she has a complex history. I know that there are a couple CF doctors near my home they are in New brunswick NJ .But I have been taking her to Dupont for 9 years now and dont want to run allover the map for doctors . I really beleive she has CF from mall the info I have read it says @ mutations =CF .
I dont know what the mutations are yet need to get copy of the results... Again thanks for sharing I look foreward to getting more info from those who know best.;;;Gae
 
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Brad

New member
Find a New Doc..
I am sorry to say ,if Your Child has 2 mutations, She does have Cf...

I have almost not GI issues and Lung issues were mild until I was 29 ish.
The Docs told my Mother I had no Cf.. when My Oldest Brother was diagnosed at 19 with Cf
all of us were tested.. 4 of the 5 us us did have Cf. All presented differently. So GI some not.
Oldest had more lung issues..
Cf is tricky... YOu need a Doc who Knows more than He read in Med School about Cf.
 
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Printer

Active member
Let me see if I understand what you are saying. Your daughter has had 7 (seven) hospitalizations over the past two years for pancretitis, she has 2 known mutations and a Doctor who says that she DOES NOT HAVE CF. You want to keep seeing the same doctors because you "don't run all over the map for Doctors".

This situation is bordering on child abuse. If this was my daughter, I would be looking to see the BEST CF SPECIALIST in this country, even if I had to drive from Delware to Colorado.

Your daughters life is at risk and it is time for you to get your head out of the sand.

Bill
 
A

Aboveallislove

Super Moderator
Bill,

She said she is trying to have the CF Center at her current hospital see her daughter--NOT that she is going to stay with the same doctor. I cannot even imagine being in this mom's situation--her precious daughter has 5 other specialists, so obviously alot of medical issues and mom came here for support because she thought her current doctor was wrong; but CF is so confusing and so much to know it is impossible to know it all, much less know that a doctor is wrong. And it makes perfect sense to want to stay at the same hospital as her other specialists so they can all interact to find the best treatment for her daughter--so yes, she needs to find a different doctor but she said she was. You owe her an apology.
 
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Printer

Active member
Aboveallis love:

True but only if it is convient for her. I had 70 hospitalizations, over 10 years, for pancreatitis, before I was dx. Let me tell you. The pain from pancreatitis, I've been told, is second only to childbirth. I take 10 Creon 24 with EVERY MEAL AND SNACK and I have CFRD. My pancrease DOES NOT FUNCTION.

I don't know what OTHER medical problems her daughter has or if they are life threating. I do know that her CF/PANCREATITIS is life threatening and it must be taken care of. Unfortunally, there are only a few CF/GASTROLOGISTS in this country and she needs to take her daughter to see one, not a CF Pulmonoligist.

Based upon my experience, what makes sense to you, does not make sense to me. Seven hospitalizations in two years and no change in the foreseeable future is beyond the pail. This women needed a wake up call.

I did it without alology.

Bill
 
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Printer

Active member
Aboveallislove:

I'm curious as to how you define "support". as in "mom came here for support". Are we to tell her that she is doing a wonderful job, while her child suffers? Should we pick mom up, put her over our shoulder and burp her because she has a situation?

Just wondering.

Bill
 
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Aboveallislove

Super Moderator
Bill,

Support is providing guidance in a way that is helpful. She doesn't know anything about CF and not nearly as much as you do and was told false information by a doctor. She came here because she doesn't know what to do and she asked specific questions and based on the suggestions said she would get her child to a CF Center. If you truly believe that a CF Center that is accreditted will not be able to help her child and/or provide the necessary referrals, you could say exactly the same thing in a way that is helpful, such as: "Based on my experience, most CF Centers, even those that are accreditted, DO NOT know how to handle severe pancretitis. I cannot stress enough how important I think it is that you immediately arrange for your child to be seen by a GI CF specialist. There are very few of these throughout the country and because you might not know how to find them, here is a list of several that I know [fill in the blank]. In the meantime, please do get to the CF Center because you need care for the other aspects of this disease. Please contact me here or PM if there is anything else I can share with you that would help you get your daughter help."
 
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Allansarmy

Guest
2 Mutations of CF and GI problems? Ya, I would definitely seek another Doctors opinion in this matter and I don't mean a regular doctor. I would literally take your results and seek a CF care specialist. I know several CF friends and most have lung and GI problems but a few rarely even need to do breathing treatments at all. My son unfortunately does have both symptoms and has had since birth (he is 16 now).
 
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Printer

Active member
Above allis love:

If you check above I sent her two private messages and she chose to ignore them. Then I replyed by posting here.

Bill
 
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tazgc1961

New member
BILL,
I did not choose to ignor your private messages first and for most I did not seek info to be belittled judged or accused of child neglect ....I am not a cf expert i was seeking in put from the community that knows this the best as persons or families of people witrh the medical issue!!!!!!!! I dont spend my entire life on the computer I have a Job and a child with many medical issues and oh by the way everyone DRs Social Workers Nurses and every one i know or have contact always praises how healthy and well cared for my child is .so thank you for you berating of me in a public forum when you only knowone little snippet of info one should not be so quick to judge this is part of the problem we all face in the world of NORMAL HEALTHY people!!!!may you have long healthy days .God bless you.
GC
 
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tazgc1961

New member
Bill and Everyone ,
I was not being nasty in my previous response .I am looking for info. and support if available.I am confused because from what I have read 2 mutatios means CF that is why I am questioning what the dr has said ...I am a nurse ..and DRs do not know it all .sometimes it is the lay people who deal with an issue on a daily basis know best..although my daughter has had pancreatitis 7 times until this last admission they have been very mild or questionable at best ..this admission lasted 35 days with 3 weeks of TPN. She has not been hospitalized nearky as much as is possible with her other medical issues...shehas beentube fed since she was 2 yrs old and knock wood has never had asperation pneumonia or any other type for thyat matter she is really heathly all things considered....When her gi told me not CF I said thanks for the info.and came home and started my own research. this is how I came to your group! please understand this is a very difficult thing to go thru I am a Single Mom with very little family for support .My sister who helps me has myesthenia gravis a neuro muscular disease which is progressive and she helps as much as she can but she has to care for herself too.so we try to work together as much as possible some days she just has a real hard day and is very week.
Thanks for letting me vent and your input I am seeking out a genetasist and a CF or Gi who deals with CF...
Gae.C
 
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Mommafirst

Guest
I wouldn't take "no cf" as an answer from a GI. Has your daughter been examined by a CF team at an accredited CF center? ALmost always 2 genes equals CF, though there are a few weird mutations that are not known if they produce symptoms. But by and large, if they found 2 genes and she has these very CF-like symptoms, then you need the right team to look at her.
 
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Mommafirst

Guest
And fwiw, lung symptoms are often delayed for most CF patients and you do not need lung presentaiton for clinical diagnosis....must less genetic diagnosis.
 
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tazgc1961

New member
Can some one tell me how do I get the private messages I was sent this Forum thing is new to me ??? and I am stuck I want to read them ,,
 
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