need advice

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brendagrhodes

Guest
My son 15 was sent to take a sweat test (at a certified CF center) because he has had pneumonia 4 times in the past year. The sweat test came back positive for CF. He is pancratic sufficient. We did a genetic test to test for mutations but no mutations were found. Im not sure how many were tested for but the dr. said it was alot. We re sweat tested a second time and the sweat test was negatice for CF but in the bordeline range. (only 2 points awy from positive) The dr's are saying that he does have CF but are expecting a very mild form. Maybe a mutation that is not known. His chest xrays are showing dialated airways and his PFT's are below the range they should be. They have started him on some medications that have been helping him. My question is canyou have CF and never find the mutation?
 
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Kimmiegirl

New member
I am no expert but I do attend the CF family night conferences yearly, and clinic with my daughter on a regular basis, and I do believe they find new mutations every year. I believe a lot of them are found because of a higher awareness of CF. Cases that may have been improperly diagnosed in the past. I would get plugged in with your local CF center, Talk to the pulmonologist there. There is a lot of new knowledge every year.
 
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Aboveallislove

Super Moderator
I'm sorry for what you are going through but glad you seem to be on the road to a good diagnosis. I would suggest finding out exactly how many mutations they tested for and who. There is an "expanded" test that looks for about 250, but there are about 1500 and I would suggest they send out and get another test that covers those. I would also insist that the doctors try Kalydeco--given that your son is pancreatic sufficient and his late diagnosis date he clearly has some functioning CFTR on the cell surface which is what Kalydeco then "fixes." It is "off-label" and an expensive drug but a miracle worker for those with the right mutations. And while they don't know your son's specific mutation they do know if he is pancreatic sufficient he has functioning CFTR. Like I said, I would insist on that and find another center if they refuse.
 
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Printer

Active member
Your son may have had his sweat test done at a Approved CF Center but he wasn't seen by a CF Specialist. He needs to be seen by a CF Specialist and have a FULL CF SEQUENCING (a testing for every known mutation). The two sweat tests do, in fact, show that he has CF.

This is NOT an issue for your local Doctor. A non CF Specialist is not qualified to diagnose or to treat CF. Please listen to me about this.

When I did the first screening for mutations, in 1999, they tested for 250 mutations (all that were known at that time) only one mutation was found. I was retested in 2010, for more than 1800 mutations. It was in this test that they found the second mutation. A local non CF Doctor could easily think that 250 mutations are "A LOT"

The Doctors ALWAYS knew I had two mutations. In 1999 the research is not as complete as it is today.

My first pancreatitic issues began when I was 26 years of age. Serious lung issues at about age 17 when I missed almost half of my Junior year of High School.

Bill
 
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brendagrhodes

Guest
He is being seen at a CF center and by a CF doctor. His regular pediatrician does not believe he has it. The CF doctor is the one who is asking for more test. I am new to all of this, so I am still learning. I do believe that the dr. said the gentics testing was a full test, testing for over 1500 mutations. They are trying to get his blood in a testing trial to see if any new mutations could be found. I have been doing alot of reading and have seen several people who have found the mutated genes but have not tested positive on the sweat test, but I have not read of anyone testing positive but not finding a gene.
 
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Printer

Active member
Brenda:

This is a very interesting situation. I'm not a Doctor but I would GUESS that the best thing to do would be to treat him as he has CF, until you positivly know something different.

His cronic pneumonia needs to be controlled. His dialated airways and low PFT need some corrective action. The CF Doctor would be best at doing that and continuing the "mutation search" and he has had those sweat tests.


I have one mutation that, other than me, has only been found in five familys in the northern part of Ireland. My Great, Great, Grandfather and Grandmother came from Sligo, Ireland.

Good luck,
B ill
 
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Justinsmama

New member
Hi,

We are new to this too. My son, 8 years old has CF but they have only identified 1 gene. The other could be a duplication/deleation or could be in a part of the gene that is not currently tested or a mutation not know. At our first CF Clinic we were treated "as if" on pancreatic insufficiency, until the lung side kicked in and we switched to another certified clinic and now he is diagnosed. I pray that your son will get the treatments he needs and that they make a difference for him.

Josette
 
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nashjp

New member
There are over 1800 known genetic mutations. Most genetic panels include less that 100. You might want to ask your son's CF doctors about CFTR Related Metabolic Syndrome. Some people who fit this diagnosis are often treated in the same way and have great relief from their symptoms. Good luck!
 
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2roses

New member
I agree with the others that say your son does indeed have cf. It took many years to find out the 2nd mutation my kids have, but we never doubted they had cf. So glad you are working with a CF Care Center. (If it's not a certified care center by the CF Foundation, I recommend you find one.) About your son's digestive assessment, you didn't mention if a stool fat test was done to confirm pancreatic sufficiency. Highly recommend that as well.

I imagine you are being deluged with information and it can be overwhelming. Hang in there! You will see a big difference in your son's health with proper treatment. Keep us posted on how you all are doing.

Sherri
 
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CrisDopher

New member
PHENOTYPE IS NOT GENOTYPE.

For pete's sake everyone STOP holding up the genetic testing as some holy grail of diagnosis for CF. IT IS NOT. Hell, we don't even know how most of the discovered mutations even work! We don't know what MOST of human DNA does. And we're learning so much lately about how the genes we know are affected by the DNA we don't. There is NOTHING about knowing your mutations that's going to help you IN PRACTICE - outside of Vertex coming up with a handful more drugs that target specific mutations.

A POSITIVE DIAGNOSIS OF CYSTIC FIBROSIS IS BASED ON A SWEAT TEST SHOWING ELEVATED CHLORIDE LEVELS COMBINED WITH A CASE HISTORY OF CERTAIN CHRONIC SYMPTOMS. PERIOD. THAT'S IT. END OF STORY; THERE AIN'T NO MORE.

Why, may you ask, am I getting angry about this? Because it is a) deluding new parents into worrying over the WRONG PARTS of CF and b) wasting an awful lot of people's time and energy trying to decide if someone does or doesn't have CF. BIG GIANT GOLDEN RULE-OF-THUMB AT ACCREDITED CF CENTERS FOR THE LAST 30 YEARS: IF IT LOOKS LIKE CF, QUACKS LIKE CF, POOPS ON YOUR LAWN LIKE CF - YOU FREAKING TREAT IT AS CF. THAT'S. IT.
 
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brendagrhodes

Guest
First, sorry if I have made anyone angry! My sons diagnosis has just been made less than 3 weeks ago! I am still learning and still trying to accept the diagnosis. 15 years of not knowing and then cramming everything into 3 weeks has been extremely hard! To answer some questions, I looked up his dr. and he is at a certified CF center. His dr. Is actually the chief of staff. I think that is why he is acting so aggresively! We are treating for CF (like Bill said) until diagnostic testing gives us a reason not to. Like the last post said , it looks and acts like CF. Yes he had his stool tested and everything was normal. The have even tested him for infertility (waiting on results) so I think the docs are leaving no stone un turned! I have spent the last 3 weeks trying to learn everything I possibly can but there is still much I don't understand! As a parent I am thrilled that the treatments are helping and I will not stop searching! Guess I need to relax into the diagnosis and stop fighting against it and fight for it!
 
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Printer

Active member
Brenda:

I'm 72 and still learning about CF. Welcome to the club. You are doing everything that you should be doing and your doing it perfectly.

Bill
 
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