Please Help - My son's symptoms - Doctor won't test for CF

anonymous

New member
Please help!

My son is now 10. As a baby, he grew very well until 9 months of age when he began to lose weight (failure to thrive). At 9 months, we had started him on some "solid" foods. Many times, I would pull his diaper off and he would be burned (almost like someone had used a lit cigarette on him). We were told his body couldn't break down certain proteins. Not missing an enzyme, just couldn't break the proteins down. The main culprits were dairy and fatty meats.

He has always had unusually large, foul-smelling, greasy stools that are often impossible to flush.

Once he started pre-school, he began to get "walking pneumonia" as many as six times a year. He still continues to have either WP or true pneumonia four to six times every year. He has had a continuous cough for five years. He was diagnosed with asthma and they have him on Albuterol, Pulmacort, Singular and Nasonex (not to mention antibiotics for 1 week to ten days out of every month). Yet, he continues to have pneumonia. Many times at night, he wakes up choking and gagging. When he has either WP or pneumonia, he has to sleep in a recliner in a mostly upright position.

My son eats a fairly balanced diet, yet, if he doesn't eat a high calorie diet (a lot of junk food) he loses weight.

Last year, my son was on the speed skate team and actually finaled in some events. This year, he has had to give up the sport he loves because he can't finish a practice session. My family doctor is the skate team's physician, and he told me I needed to have my son checked for CF. However, my son's physicians say he doesn't have the right symptoms. They have checked him for TB, thyroid problems, etc.

Suggestions?

Anxious Mom
 

anonymous

New member
Switch doctors! Your doctor should test him no matter what his/her feelings are. It is a simple test and it should be your choice, not his/hers! How can he/she say your son doesn't have the symptoms when he gets sick as often as he does AND he has greasy stools! I would really get a new doctor now.
 

NoDayButToday

New member
Get him tested! His symptoms are pretty much a textbook CF case, I'm not trying to upset you, but it sounds fairly possible that he has CF. Also, lick him. A 10 year old boy may not react well to Mom licking him LOL, but does he taste especially salty to you?

With his symptoms, a responsible doctor would have tested him ages ago, what with both lung and digestive issues... keep us posted. <img src="i/expressions/rose.gif" border="0">
 
A

arabeth

Guest
I can only ditto the two previous responses. Absolutely don't take no for an answer. I had exactly the same situation with my daughter. She grew until about 9 months and then just fell off the charts... It took me until she was 2 1/2 to figure out what was going on and insist that she be tested. And believe me, I had to insist. The dr thought I was just a very paranoid mother but I refused to leave the office until I got an order for the test. I certainly hope that your son does not have CF, but at least you'll know. Please, just don't take no for an answer and if the dr won't give in, go see another dr.
 

anonymous

New member
Anxious mom, #1-get a new doctor, #2-when it comes to your children ALWAYS trust your gut-doctors are just doctors and 7/10 times they are wrong. #3-report that doctor to the local medical board-they need to be aware of this kind of stuff so they can properly educate physicians on symptoms of CF and how important testing is. And just because I am getting so sick of ignorant people (mainly doctors who think they know it all and are too hoitytoity to test a child simply because a parent thought of it first), if your child does have CF (I hope this does not seem insensitive, but as I said I am just getting sick of these doctors) it sounds like you would have grounds for a lawsuit-misdiagnosis, refusal to test...Maybe if it's presented to a doctor like that (they hate legal implications) they might test your child.

Best of luck and please let us know of any progress you make,

Julie (wife to Mark 24 w/CF)
 

anonymous

New member
Get the name of a new pediatrician from a friend. Call the new doctor tomorrow and get your son tested.

Sharon, mom of Sophia, 3.5 and Jack, 1.5 both with cf
 

anonymous

New member
in my last post i forgot to mention you can go to www.cff.org to locate an accredited CF center near you.

Julie
 

HisGraceUponHer

New member
when my daughter was diagnosed with CF she pretty much had the same symptoms you described. one thing (A DIFFERENT ped. can do for you), is first test his stool, and see if he has the missing enzymes in his pancreas, that CF patient have. Of course a stool test is most certainly going to take longer to get the results back because it has to be sent to a lab, but the simple sweat chloride test will give you the results later on that day. Your son most definatly has the normal symptoms of a CF patient, but i guess you never know, i could be something else. But he should definatly be tested, no doubt about it! Because if it is CF he needs to start being treated now. I believe IN MY HEART that they will have a cure for CF soon. And the most important thing you can do is keep him as healthy as possible so that when there is that cure, he will be healthy and strong!
My heart goes out to you and your family, and let us know about what happens.<img src="i/expressions/heart.gif" border="0">
 

thefrogprincess

New member
I know its been said already, but I had to express my utter shock and outrage that the doctor won't test your son!!!! Is this person completely insane!?!? If I were you I would skip going to another pediatrician altogether and taking him straight to a CF center, once they hear about his symptoms they'll test him right away.
 

anonymous

New member
Wow, ditto to everyone's response. It is honestly unbelievable how little most physicians know about CF. Without exaggerating, I will tell you that we went to SEVERAL (five plus) pediatricians before a blessed P.A. took our concerns seriously...and my husband is in the medical field! We had done our research and KNEW the symptoms (like you), but we were constantly being told that we were overreacting. Be persistent. See another doctor. And if this doctor has the same response, see another one! Don't ignore these symptoms. A sweat test is fairly inexpensive, painless, and fast. If done at a children's hospital or cf center (www.cff.org), the test is very reliable....but don't get it done just anywhere. Please keep us posted. We're behind you all the way.

Feel free to email me:

Carey
bono40@aol.com
 

CFHockeyMom

New member
We had similar issues with our son. My husband was positive our son had CF. He was so salty and my husband remembered a local public service announcement about salty babies and CF. As soon as my husband mentioned it, my heart sank. I knew it was CF. You know, the way a mother just knows. Well, as our son didnt' gain weight and ate and ate, we mentioned it to our pediatrician and she blew us off because we had no family history. Before long, a cold turned into pneumonia and our sons condition became very grave so much so that he was life flighted from one hospital to the next. At this time I'm pretty sure my pediatrician knew he had CF but never admitted it to us. Fortunately, he was life flighted to UofM, one of the best CF centers in the country and he was diagnosed just a two days later.

The sweat test is so simple and non-invasive. I don't know why any pediatrician wouldn't order it at the parents request. This seems all too common.

If you still can't get your pediatrician to order it, contact a CF center directly and see what your options are.
 

rose4cale

New member
You have no other choice than to switch Doctors. I think CF symptoms are so definitive, yet it seems Doctors are either too ignorant or 'busy' to take a Mother's instinct to heart. Parents know when something isn't right, and you HAVE to do right by your son by taking him to an accredited CF center and have him properly tested. That's your job and you won't sleep peacefully until you do so. I wasted a year with our family doctor who didn't take my concerns about my son seriously, and then wasted another 3 months because I went to a digestive doctor who didn't know CF.

Trust you gut! <img src="i/expressions/rose.gif" border="0">
 

anonymous

New member
Find a new doctor! Both my kids were diagnoised in their teen. My son was a roller hockey player, the same thing happened to him with practices. Once he was diagnosed and got treatment, he was back to skating again
 

anonymous

New member
You will need to switch doctors. sometimes doctors don't like testing for Cystic Fibrosis because of two reasons: 1.) the doctor doesn't think he has it. 2.) If he has it the doctor won't tell you because they know it will upset you. The best thing is to know about it and at least do some research on it.
 

anonymous

New member
I'm sorry to all the families who has a loved one with cystic fibrosis. I know in a way how hard it is to deal with cystic fibrosis. I have begun to research cystic fibroisis and the symtoms and causes are sad. I wish there was some way other people could help out. some people just don't understand cystic fibrosis.
 

anonymous

New member
Hi, my daughter has CF and was diagnosed at the age of 11. She also had the smelly, greasy stools, sinus problems, cough and from the time she started eating solid food she could eat more than an adult.

The test is quite simple and virtually pain free. It's amazing how the enzymes have helped break down the food my daughter eats and she is now gaining weight and doesn't feel the need to eat half as much. I hate knowing that she has CF but am glad that we are able to help her feel better.

You could also check with the local CF Association and they would be able to help you also.
 

anonymous

New member
Our situation was very similiar with our daughter - and get this; her pediatrician was the Medical Director of the Children's Hospital in our city. When I asked him to test my daughter for CF (she had all the cardinal symptoms) he stated "why would you want to know? that is a death sentence". I immediately switched doctors, she was tested & was positive. Every time new literature comes out I make sure I send a copy to the old pediatrician's office because he needs further education. We considered suing - not for the money - but, because of this physician's credentials - he had no business being Medical Director of a Children's Hospital and not having any education on CF. Also due to the fact that he was an insensitive jerk. But, I got over that and feel satisfied by educating him on atleast a monthly basis.
 

anonymous

New member
Anxious Mom here,

Thank you all so much for your support and kind words. And yes, I DID demand my son be tested for CF. He is going Monday to our local hospital. They do the sweat test there. I had hoped to take him to a CF Clinic, but my son's pediatrician (I believe) is only pacifying me. (Quite frankly, in the famous words of Rhett Butler, "Frankly, I don't give a da.." just as long as we get the test.)

Can anyone tell me what number (30, 500, 1000, etc.) means he has CF? (As you can see, I have no idea what the number scale is.) Also, if the test is borderline - what are my next steps?

How long will I have to wait for the results? I know after all this fight just to get him tested, I should just be thankful. But, as a Mother, I can't help but worry.

Anxious - Yet Somewhat Relieved - Mom
 

rose4cale

New member
I was 'pacified' with a sweat test by a non CF hospital for my son. They didn't tell me any numbers just told me it was negative and that he was going through a phase. A couple of months later I demanded going to the University of Iowa which has a CF center because my gut told me that he had it and by that time I learned a little more about CF and the care centers. And if he didn't have CF, he certainly had something they would find. They tried many sweat tests, and finally did the Ambry blood test which concluded that he was positive.

My point is, don't settle or just be pacified. Time is very valuable if he is not feeling well. And the sooner you have a definite answer, the better he will be.

We'll be thinking about you. Please let us know how everything turns out.
 

anonymous

New member
I agree with the previous poster that you should find an accreditted CF center. The personnel there are trained to do the test correctly.
However, getting a sweat test at all is a good start. Keep advocating for your son!

Here are the breakdowns for the numbers on a sweat test:

0- 40 Considered negative (Although a person with symptoms who scores in the 30's should be blood tested.)

40- 60 Borderline (Again a person with symptoms should be blood tested or get another sweat test at an accreditted CF center.)

60 + Positive CF

There are a few genetic mutations that often produce borderline or negative sweat tests. It is rare, but it happens. One mutation I read about is R117H. The results can take anywhere from an hour later to a couple days depending on the hospital or CF center and your physician.

Good Luck!

Maria
 
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