My daughter is being tested

[debs2girls]

for c/f...she has been tested already with a different doctor and she said she is a carrier...we have changed doctors and the new one said her other tests are inconclusive...I am tired of this not knowing...but after reading all of your posts since joining this forum, I believe she does indeed have it...she is going for another sweat test on Monday, a chest xray and then back to the c/f dr in the late afternoon for the results of these tests and the blood work he ordered the last time we were in...right now he is saying she has probable c/f.

Cheyenne had a problem with 10 different formula's, we finally put her on Neocate and she started gaining a little, failure to thrive, constant cough and several sinus infections that have taken many rounds of antibiotics to get rid of. She had/has bad reflux, pnuemonia 17 times, asthma, always has a stomach ache, eats constantly but is still little, then sometime she wont eat at all.

There is no known history of c/f, but she was adopted at birth so I really dont know that much family info.
Does it seem like it to you all?

The lymph nodes on the back/side of her neck have been swollen for two weeks and so far I dont have an answer for that either. Has anyone else had that problem? She is in pain most of the time with it.

I dont know if this matters or not, but she is African American. What is everyone else's nationality?

Thank you for "listening" to me rant about my baby. I really appreciate it.

Debbie

 

[debs2girls]

Oh and I forgot the dr said she has clubbing of her fingers. What does this mean and does anyone else have it?
I probably will remember some other symptoms she has as soon as I post this....lol
Debbie

 

[julie]

Welcome debbie,

To address a few of your questions,
-Clubbing of the fingers is a telltale sign of CF. I am not sure what causes it I believe it has something to dow ith oxygen because some with COPD have it as well, and not all CFers have it, but for those who do have clubbing of the finger often times have CF.
-Many CFers are of European descent but there are African Americans with CF, a good resource for you to look at, if you wanted to talk to another family who has an african american child with CF is the Milan Foundation, <a target=new class=ftalternatingbarlinklarge href="http://www.milanfoundation.org/">http://www.milanfoundation.org/</a>.
-If your daughters sweat test is inconclusive, as is the case sometimes, I would recommend you ask for a blood test for your child. Have you heard of Quest Diagnostics? They do an expanded mutation test of the over 1,000 know mutations. Other basic CF tests (i.e. the lab at the hospital or Genzyme) only test for 25-89 of the most common mutations. I refreshed a topic about Quest in the Adults section but here is the link to that discussion on this forum <a target=new class=ftalternatingbarlinklarge href="http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=4194&STARTPAGE=1">http://forums.cysticfibrosis.com/messageview.cfm?catid=5&threadid=4194&STARTPAGE=1</a>
-The pneumonia, "asthma", stomach problems, constant eating but no weight gain... all sound very very very much like most peoples symptoms of CF. My husband, for example didn't have any CF related problems until his mom stopped breastfeeding him when he was a bit over 12 months. Then he had digestive problems, started getting sick all of the time, had rectal prolapse issues.... and It took almost 6 months for them to find out what was wrong and when he was 18 months he was finally diagnosed.

Out of curiosity, what is her age?

I hope some of what I have posted helps, and please feel free to ask as many more questions as you need to. You can reach me by email at

<a target=new class=ftalternatingbarlinklarge href="mailto:division902@hotmail.com">division902@hotmail.com</a> or <a target=new class=ftalternatingbarlinklarge href="mailto:cystic_fibrosis_male_infertility@yahoo.com">cystic_fibrosis_male_infertility@yahoo.com</a> or <a target=new class=ftalternatingbarlinklarge href="mailto:julie@cysticfibrosis.com">julie@cysticfibrosis.com</a>

Take care,

 

[debs2girls]

Julie thanks for all of your useful information. I forgot to tell her age...lol...Cheyenne turned 5 in Sept.
The first doctor did genetic testing through Ambry. It showed one mutation. The new doctor is doing blood work too.
Debbie

 

[julie]

Debbie, people who have had inconclusive results through Ambry have acutally had success with Quest. If the sweat test is borderline or inconclusive, I would definately push for another blood test through Quest Diagnostics.

I was thinking last night, it might be beneficial for you to contact Milan's parents (I believe there is an email and phone number contact on their website) and ask them how her CF was diagnosed, i.e. sweat test, was it borderline, did she have a blood test.... if you have difficulties, and they did too, their experiences might be able to help you.

My thoughts are this, if "it" mimics the symptoms of CF (in your daughters case, pneumonia, digestive problems, sinus infections, constant cough, reflux, "asthma"....) it ought ot be treated like CF until CF is definatively ruled out! If it were me, I would prefer that my parents treated me with CF mends, only to find out 10-15 years later that I didn't have CF-but the meds didn't hurt me, than to NOT be treated because no one could clearly diagnose CF and come to find out 10-15 years later, I DO have CF and missed almost 2 decades of life extending and sustaining treatments and medicaitons. I hope that makes sense.

Best of luck with the testing and please let us know how it goes!

 

[Emily65Roses]

I always like to throw this in: Doctors always make it seem like if there's no family history, then there's no worry for CF. I'm sorry, but that's crap. Heh. I was the first and am still the only CFer in my family, and my mom was one of 6. Each of her siblings got married and most had at least 2 (sometimes more) kids, and none of my uncles, aunts, cousins( 13+), or my sister has CF. No family history doesn't mean much.

 

[anonymous]

HI DEBBIE MY NAME IS LOUISE AND I HAVE A 6 YEAR OLD DAUGHTER CALLED ANTONIA WHO WAS DIAGNOSED AT 6 WEEKS OLD , SHE ALSO HAS SLIGHT CLUBBING ON HER FINGERS . AT THE MOMENT AHE IS BEING TREATED WITH INTROVENOUS ANTIBITICS AS SHE DEVELOPED A COUGH, BUT WE ARE VERY LUCKY AS I DO HER DRUGS AT HOME.

 

[ashton2005]

Hi everyone I just read how people are the only ones that have cf and dr's telling parents not to be tested if there is no family history.. Well when i was pregnant my ob offered me the screening carrier test and it came back positive for carrier as did my husbands also... No one in either of our families has cf and we dont know who is the other carriers.. But as you know our little boy ashton 4 1/2 weeks old has cf and is awaiting another surgery to reconnect his bowel.. so if you are suspicious then have your child tested dont rely on family history..

christi

 

[JazzysMom]

I dont know if this still applies because of the introduction of more prenatal testing, but it use to be that 98% of CF diagnoses had NO known family history. Ironically the test was only offered to those knowing of it in the family which left many to be diagnosed later than necessary. Fortunately this is changing slowly.

 

[anonymous]

We didn't have a family history of CF, DS passed the sweat test with NORMAL results, but genetic testing showed double deltaf508.

We were fortunate that ds was diagnosed pretty much right away; however, we had some problems with a recurring infection and were concerned they weren't being proactive enough. So we talked with a family member who is an attorney (medical malpractice) and he said to us that what we should do is if we request a test and they decline, we should ask that it be noted in DS's chart that parents asked that such and such a test be done and we declined.... That way it's in writing and if anything should happen -- there's a paper trail. Plus, it motivates the doctors to perform the tests <img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[debs2girls]

Thank you everyone for your suggestions/support. Julie, this sweat test was also borderline. The dr said that we have too many c/f problems to ever rule it out, he said it is too late for that...and that we may never get a possitive diagnosis...two of her sweat tests were possitive, so why all the run around? They said it was because the numbers were so different, but they were still possitive.
He said we are treating her for c/f anyway....so far there hasnt been any difference in her daily regimen of meds....he is ordering a stool elastase test but we are having some trouble with her insurance not paying since it has to be sent to a differnt state....anyone else have this trouble?
Her bloodwork showed pancreatic insufficiencies. The chest x-ray showed a significant amount of lung damage...he said he would be very aggressive in treating her chonic "cough"...if it gets any worse, he wants her admitted for iv treatment.
Debbie

 

[anonymous]

Debbie-
I am a bit confused about what the doctor said. You mentioned that your daughter has had two positive sweat tests. Why is their confusion about her diagnosis? One or two positive sweat test = a diagnosis of cystic fibrosis (regardless of any other sweat test results or difference in numbers). That is good that he is treating her as if she has cf. Hopefully the new medications will help Cheyenne.
Sharon, mom of Sophia, 4 and Jack, 2 both with cf

 

[debs2girls]

Sharon, I am just as confused as you are....the first dr. and a genetic counselor told me she was just a carrier...I have changed drs and he said he will treat her as having c/f. So far, she is not on any new meds...he did say he wanted cpt's done on her, but he didnt tell me how to do them or how often, I only know what they are because of this forum...lol..Cheyenne takes breathing treatments already but only when needed because of her asthma. How often does everyone take them?
Is there anything you all can think of that I need to ask the dr when we go on the 19th?
Thanks for you help,

 

[2005CFmom]

Debbie,
My daughter (8 years old) was diagnosed in August. We do treatments twice a day. In the AM with albuterol followed by chest pt. In the PM with albuterol, pulmozyme and chest pt. That seems to be the basic starting point. My daughter has not had much lung damage yet and I have heard of people doing treatment 3-4 times a day, but that may be during an illness when there is more to clear. Has your doctor checked vitamin levels? It is common for CFer's to be low on certain ones E, D I know (A & K I think). So if you get those checked that may be another clue to the puzzle.
Hope this helped.

 

[debs2girls]

Teri, we are waiting for the vitamin level results. We wont get those til the 19th when we go again.

 

[anonymous]

Debbie-
My children wear the vest twice a day for 30 minutes each time. They inhale pulmozyme. It is a drug for cfers that helps to lower the white blood cells that tend to be high in cfers, it also is thought to bring moisture to the lungs and help with inflammation. Not all doctors are all not convinced it works, but I think it really helps my kids healthy. Sophia also inhales mucomyst - a mucus thinning drug. I would think that since you said the x-rays show significant damage, that you would want to start chest physical therapy now. I would ask your daughter?s doctor for a prescription for the vest. A lot of people order it from Hillrom (800-426-4224). I would even ask about zithromax. It is a drug used commonly on older cfers to control inflammation. My children also take Prevacid Solutabs which helps with digestion of enzymes and reflux. Kids with cf are thought to have an imbalance of ph, so antacids are often prescribed. Prevacid is one of the best. Zantac does not do much good in my opinion. Is your daughter taking enzymes?? If not, she needs to be since you said she was pancreatic insufficent. Enzymes help digest food. It also supposed to get rid of the stomach aches as well since the stomach aches are due to malabsorption. They also take a good childrens multi-vitamin and ADEK (a cf vitamin).

Sophia and Jack do three or four treatments a day when they are congested and I am concerned. Thankfully, it is just about once a year for a few days.

Jack and Sophia go to clinic every three months. I think it is great that your daughter?s doctor wants to see her so often so you can get things working right for her. I often wish I would see my children?s doctor more often so we could address some issues and not have to wait so long to get my questions answered. Definitely bring a list of questions you want answered. I am a bit concerned that the doctor is not firm about her diagnosis. It seems quite elementary that a cf doctor would know that two sweat tests over 60 = cf.
Is he at a cf clinic? You can check at
<a target=new class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/
">http://www.cff.org/chapters_and_care_centers/
</a>If your daughter's doctor is not at a cf center, I would change to one to make sure she is getting the right treatments and medications.

I saw that your daughter next appointment is the 19th and that she has not started any new drugs. I do not think that this is acceptable with her new positive sweat test score and the "diagnosis" in my opinion. She should have been started on new drugs (i.e. enzymes), and you should know how to do the cpt. One thing I have learned since my daughter was diagnosed, parents have to play a vital role in their kids medical decisions. Learn as much as you can (you are doing a great job by asking other cf parents). You need to be firm and demand answers. I would call on Monday, ask to speak to the doctor if necessary and ask (demand) to be seen sooner. It is obviously not an emergency but her issues have waited long enough to be addressed.

Also ask that they do a swab of her throat to see if she carries any common cf bacteria, if they haven't already done so. Some common cf bacteria are staph, and pseudomonas. If she has psuedomonas it is almost always treated with inhaled and oral antibotics and sometimes IV's regardless of any respiratory symptoms.

Sharon, mom of Sophia, 4 and Jack, 2 both with cf

 

[anonymous]

DD is 2 1/2 and we've done CPT 3-4 times a day -- we do 3 if she's healthy and throw in an extra one and increase the time if she's got a cold or upper respiratory bug. She goes to the clinic every 6 months and to a CF doc every 6 months in a larger city. They do a throat culture to test for bugs every time we have clinic and test blood levels and do chest xrays once a year.

 

[debs2girls]

Sharon thanks for that link. I checked and he is with a CF center. I thought he was but I wasnt possitive since we just started going there. The first dr did a throat swab and it came back neg. so she said she didnt have c/f. (that is where we got the first four sweat tests done.)
This dr is supposed to be scheduling a stool elastase test to see if she needs enzymes but he put on the sheet of paper he gave me that she is pancreatic insufficient.
Cheyenne has been on antiacids since birth because of reflux and stomach aches. She is now on the prevacid solutabs.
She is currently taking cephalexin for some kind of lymph node problem.
The first dr suppected c/f 2 years ago, but she didnt test her because she said " Cheyenne looks too healthy to have c/f"
I just dont know what to think about all of this. My husband is like...the first dr said she is just a carrier, so she doesnt have it...I think he is in denial, but that is not going to help her get better or should I say stay healthy?
Thanks for letting me ramble.
Debbie

 

[anonymous]

Hi, Debbie my name is Carolyn Mcrea and I am a mother of 4 with one child withcf. He is an african-american male and he was diagnoised at 8 years old. he is now 13 years old. I pray that the doctors you are now connected to will continue to treat her for cf because it will make a world of difference in her life. My son was having alot of medical issues, hospital stays sometimes lasting for weeks. His team at Children's hospital here in Philadelphia was alarmed and wanted him tested. He too came back borderline on one sweat test and positive on the other 2. Just continue to ask questions and relate your concerns because you are a vital part of her coping with Cf and everything else that comes along with it. I will keep you and your family in my prayers because prayer does change things and until the Lord heals my son I will continue to pray for his strenght and for all the other children/adults who are fighting this disease. Please feel free to contact me @ Faithcm3@aol.com
God bless,
Carolyn McCrea
Oh by the way, my son's name is Stafford

 

[debs2girls]

Hi Carolyn....The doctor Cheyenne is seeing now is not currently treating her for anything...we have been to him three times, Monday being the latest. He has not changed any of her current meds and has added a nasal spray. He is still saying "probable CF". I asked him if the stool elastase test comes back that she needs enzymes, will that change the dx to CF, he said yes, but if it comes back that she doesnt need them, it will just make the grey area's greyer.
It is all so maddening. I just wish they would figure out what is wrong and treat her. He did say that her blood work shows that she has alot of inflamation and its probably in her lungs....that would be my guess too.
Thanks for your help Carolyn and I will email you sometime if that is ok. Mine is debs2girls@valornet.com, feel free to do the same.
Debbie