Just a feeling...

[meeshyo]

Hi Everyone.  I was hoping you could help me with this nagging
feeling I have about my little girl.  Let me share our story.
 Around 3 months of age, I noticed Madison seemed to be
"rapid breathing,"  showing no distress or any other
symptoms.  I mentioned it to our ped. and at 6 mos. this
continued.  She had her heart looked into, and all was clear.
 We did a "wait and watch."  At 11months, she
developed a cold which quickly turned into horrible pneumonia.
 Both of her lower lobes of her lungs collapsed
(atelactysis?), her chest x-ray revealed her lungs were filled with
secretions.  She was admitted b/c of a low pulse ox. and a
pulmonologist was immediately introduced.  He seemed a bit
concerned with it being CF and when he learned that my first cousin
died of CF...red flags alarmed!!  Thankfully, Madison had a
negative sweat test and the blood test they ran was negative.
 My blood test (as a carrier) was negative...so I thought we
could put this to rest.  It is now 5 1/2 months later, Madison
still has secretions on her lungs despite aggresive treatments with
nebulizer, oral steroids, etc.  She has dropped from the
30/40% to the 2nd percentile in weight.  Her trypsin stool
study came back very low.  Her pulmonologist wants to call her
"reactive airway"...she has NO cough.  She has had a
few more pneumonias and ear infections over the last months.
 Within the last several months, she has been pooping A LOT
with a A LOT of undigested food in her stool.  Her stool is
also very foul smelling.  They ran a blood test which
indicated a positive result for IGG antibody indicating possible
celiac disease.  She is scheduled for a bronchoscopy and
endoscopy on the 25th.  Something inside of me just worries
about CF.  Maybe it is instinct or maybe it is fear...after
watching my cousin die.  I know so much has changed and I am
certainly ready to help Madison tackle whatever it is that she has.
 Anybody have any words of wisdom?  Has anybody had
negative sweat and blood tests (she had a test that looked at 87
mutations).  Does the fact that my blood came back negative
mean we are clear?  Should I push for a full panel?
 Help!!

 

[JazzysMom]

Given your family history of CF I would push for the extended panel. Your little one as already been thru a lot & if it is CF you want to get a dx ASAP to start appropriate care. If its not then you can look onto the next possible cause. Good Luck!

 

[LisaV]

You say her trypsin level is low.
Have they tested her for alpha-1 antitrypsin< another genetic condition?

 

[meeshyo]

Thank you Melissa and Lisa for reading and responding.  I just
can't seem to shake this feeling.  I think a full panel is an
appropriate next step, if anything it can put my mind to rest.
 Could there even be a possibility if my bloodwork came back
negative?  Hmmmm.  <br>
<br>
Lisa-regarding the alpha-1antitrypsin...I am not sure they have
looked into it.  I just know that they have taken two stool
samples and told me the first was 1:20 and then second is
1:10...normal is 1:80.  I have NO idea what this means, but
the nurse said it is low.  I am hoping to get more of an
explanation when we see the pulmo.  <br>
<br>
Does any of this sound familiar to anybody else?  Is there
anything I should be doing??  I just feel so helpless.

 

[Emily65Roses]

False negative sweat tests are very common. Negative blood tests aren't as much, but they happen. Definitely push for a full panel, especially with your cousin. The 87 she was tested for are the most common. BUT there are more than 1,000 known CF mutations, so it's very possible hers are in the untested group.

The only major advice I have for you is FOLLOW YOUR GUT. If a doctor says you're being paranoid and won't test for something... get a new doctor. Mothers are more often right than doctors like to admit, especially if it means they're wrong. Do whatever you need to do to advocate for Madison. If it means going to 10 different doctors before you get the answer you need, then do it. Especially be sure to try CF centers, which can be found <a target=_blank class=ftalternatingbarlinklarge href="http://www.cff.org/chapters_and_care_centers/">here</a>.

 

[meeshyo]

Thank you...We are seeing a pulmonologist group that is also the CF
Center in our area.  I need to express my nagging concern to
them and hope that they can help me rule this out.  As they
explained to me, they only test me for 30-40 mutations, so I just
feel that if Madison were to have CF through rare mutations, my
blood test would be negative too...<br>
<br>
<br>
Out of curiosity, will doing the bronch. show anything that would
help the pulmo. see CF or help rule out CF?<br>

 

[Emily65Roses]

It won't diagnose or rule anything out, but it may help. CFers are prone to a variety of various bacteria in the lungs that most other people don't get. Pseudomonas, MRSA, staph, cepacia, among many others. Those are just the most common that first came to mind. If Madison has, say, pseudomonas in her lungs, it may make it easier to convince insurance to pay for a full panel on CF mutations.

 

[JRPandTJP]

Stick to your gut and don't give up. Moms are almost always right. It does not seem within "normal" to me what you are discribing.

Some ideas: As you search, can the doctor prescribe some enzymes to see if it can help her stools. While we were waiting for diagnosis and confirmation (used Guthrey panel test for 1000 most common mutations) we were given them right away to see if it would help - it did. Also we started probiotics immediately which helped alot (Culterelle 1 cap dailly to soothe the gut and aid in digestion).

Also, have you checked out the allergy side of things at all? Food allergies can really do a number on tiny immune systems and can throw off the gut. If allergies are severe enough it can leave the whole immune system vulnerable. Just a thought.

Keep fighting for her and we are here for you. I agree with you and would think the genetic test of only 87 would be equallly limited for carrier genes as well. They need to go further ASAP. Good luck and keep us posted.

Warmly, Jody

 

[julie]

Michelle,

About the blood testing, there are over 1,300 KNOWN CF Mutations so if you and your daughters father carry rare mutations a test of 87 mutations won't do you a darn bit of good.

While you are looking into the ceiliac (sp??) disease, I would highly recommend you do ALL you can to get a blood test through Ambry Genetics (www.ambrygen.com) or Quest diagnostics (<a target=_blank class=ftalternatingbarlinklarge href="http://www.questdiagnostics.com/hcp/topics/cf/cf.html)">http://www.questdiagnostics.com/hcp/topics/cf/cf.html)</a> . both of them have comparative testing, but I've heard more people having luck with insurance coverage by going with Quest.

Please keep us updated as to what you find out. Take care,

 

[meeshyo]

Thank you all for your advice/support.  In answer to some of
the questions...yes, we did have the allergy route checked into.
 The only abnormality was high IGG antibody which can indicate
a possibility of celiac disease.  She seems "too
healthy" in my family's opinion for cystic fibrosis, and she
never coughs.  However, one of the pulmonologists in our
group...the one who thought for sure she had CF when she was in the
hosptial...wants to diagnose her "reactive airway" with
no cough.  Now, as these other symptoms continue to
persist...I think he wants to "look further".  That
is why we are headed to the bronch. in two weeks.  <br>
<br>
I just need to be patient and hope for the best...

 

[Scarlett81]

Of course we hope it isn't CF, but if it is there's plenty of good CF care centers to help you along the way as well as support here for you-and welcome by the way.

Having said that, I just wanted reiterate that there are over 1000 mutations-and different ones can run in the same family line. Myself and one cousin are all that exist in my family with cf. I am 23, pretty healthy and active with FEV1 of 75%. My cousin is only 8 years old-and severly sick. We have completely different mutations, and therefore different expressions of the disease.

Your daughter may have a more rare mutation, and need a more comprehensive genetic test. If I were you I'd forget about the negative sweat test-there have been many false negatives. I'd focus on getting a more thorough genetic screening done.

Also-have you considered an actual CF accredited care center? I know that there are some good pulmonologists out there-and I'm not at all questioning your current doctor. But, the Cf centers are on the top of the cf game. They get the newest information first-attend international conventions on cf, and have access to great genetic counselors. Try www.cff.org , that will give you a list of cf centers in your state.

I wouldn't give my opinion so readliy-but since you asked,<img src="i/expressions/face-icon-small-smile.gif" border="0">I don't think I'd take another step in this process without calling a center. I cannot over state the benefits of being at a center-I've been to both. And my health improved incredibly b/c of being with the docs I have. Anyway-wishing you the very best, and hope you get your answers.

 

[Scarlett81]

PS-
I saw you mentioned that the pulmo group in your area was also the cf center-make sure they dont' drag you out on this! Call em and nag em to get you in!

Take it from me-when you have cf you gotta be a nag with your hospitals! And if you don't get what you need, move along to another.<img src="i/expressions/face-icon-small-smile.gif" border="0">

 

[meeshyo]

THank you all...I called our pulmo. this morning, who is also the
CF Center in our area, and shared my "feeling" with a
nurse who took it very seriously.  She was going to further
discuss our case with the doctor after his clinic today.  I
told her I don't want to be pushy, but I just can't live with
myself without ruling this out COMPLETELY.  She asked me more
pointed questions about ethnicity, etc.  Hopefully, they will
get back with me in a day or two.  They are also trying to
move up the date of her bronch. and endoscopy to next week.  I
am just ready for some answers.

 

[julie]

Good luck with the bronch and keep us posted of the results. Even if it doesn't yield any CF typical bugs, that still doesn't rule it out. I of course, hope she doesn't have CF but you do have the right to rule it out and you ARE doing the right thing.

And I don't mean to be rude in regards to your family, and I know it's easier said than done, but who cares what your family thinks about her being "too healthy" for CF. NOBODY, absolutely nobody's CF is the same, not even identical twins! Siblings who both have CF generally have different problems and different levels of severity. One child has VERY bad lung problems and minor digestive while the other has VERY bad digestive problems and minor to no lung problems. Still other families one sibiling has very bad lung and digestive complications where another sibiling who has CF too, has virutally no problems. They are probaby comparing your daughter to your cousin, which is not far fetched for them to do, but it is definately not an accurate "comparison". I'm sure you know this already though.

Don't worry about being pushy and a nag to get these tests done for your child. You have that right as a parent. Many parents on this site have had to do the same thing, and many CFers as they get older have had to push to get their needs taken care of by doctors. And as a wife, many a time I have been pushy and nagging to get my husband taken care of. In the end if his health (in your case your child's health) is better because of it, then it served it's purpose.

Keep us updated and best to you with all of these upcoming tests!