ABOUT JOSH'S TEST

[bmombtoo]

<div>Sorry didn't mean to leave you guys hanging......at 11pm my
husband insisted I go to bed as I didn't sleep well Sunday evening.
Josh and I and Aunt Barbara were there for about 4 to 5 hours which
seemed like an eternity. I was exhausted when I got in and today I
had class.<br>
<br>
Great news.....his sweat chloride was 15 and mine was 12. The one
last week at a JHU affiliate hospital was 70. I'm a little confused
because one is positive, however his pediatrician told me last week
she only accepts the the one from Hopkins as correct. <img src="i/expressions/face-icon-small-happy.gif" border="0">:<br>
<br>
Now the not so good news.......our medical history sounds very
suspicious to the Doctor; by the way we saw the director of the CF
clinic. In regards to Josh, nasal polyps in children are most
always CF. The early problems with reflux, 3 early hospitalizations
for respiratory infections that required IV antibiotics, asthma or
bronchitis 3 x this year that had to be treated with predisone ear
infections, and getting PE tubes about a month ago when he had
sinus surgery. Addtionally he takes advair, singulair, zyrtec, and
flonase daily. He is also on Xolair, and gets two shots once a
month. PF's showed mild to moderate obstruction in the lower
airways; she gave him albuterol and it didn't change it much.<br>
<br>
Sooooooo....she did a throat culture, a chest ex-ray, and got about
7 tubes of blood. Checking for CF mutations, thinks he is a
carrier, allergic bronchopl "?" ("pedi."
said it has something to do with the cilia), and a specific mold
called asperigillosis.. When the mutation screen comes back she
will do nasal potential difference testing. She was suppose to call
around 2pm today but didn't. The mutation won't be in for at least
three weeks.<br>
<br>
I'm not nearly as scared as I was last week but I am still worried
and would like answers. You think everything is okay and than a
whole new bag of worms opens up. I know you all have been
there..........Thanks for being here.<br>
</div>

 

[sdelorenzo]

Sounds like a lot went on yesterday. That is good news that the CF doctor sent his blood off to look for mutations as well as wants to do a nasal difference test. Hopefully you can get more answers from them.
***If a doctor says they will call at 2. Wait until 4 and call them. I have learned to take control. Nobody cares for your son like you do!
Sharon, mom of Sophia, 5 and Jack, 2 both with cf

 

[JazzysMom]

Thanks for the update. Keep them coming so we can support you accordingly!

 

[letefk]

Yeesh, I really CAN relate to this. I think part of what is happening is that they are learning more and more about CF, and that means that they are finding more and more children like ours that do not fit the classic assumptions, but who are having symptoms related to CF mutations.
I hope you get your answers; I know we have really struggled with the lack of clear answers on many things. But it does help to at least have a place to start looking. One of the things that really hit me powerfully when we first faced this diagnosis is when the nurse practitioner (who we adore) looked me straight in the eye and said, you know, now we have a label, but nothing else has changed. Your daughter's health is not suddenly worse because we are calling it CF. All that has changed is that we have a better idea of what we need to do to help her be as healthy as she can be.
Knowledge is power, but sometimes it still hurts like hell, no?

 

[letefk]

I meant to mention in my last post, for what it is worth: my youngest (2) had a sweat chloride of 11, but the same genotype as her sister, who has a sweat chloride of 49 and the classic lung problems of CF. The little one doesn't have the same lung problems (so far, at least) but is being followed closely at the CF clinic because of sinus issues; we were told that many "carriers" are actually affected by the CF mutation (this contradicts the old way of thinking about this as a purely recessive disorder), and that chronic sinus issues and some types of asthma are often how it is expressed. It sounds like this is what they suspect is happening to your son as well.

It is really a very good thing that you will find out if those genes are there and this is CF-related. It will mean you can have an easier time qualifying for some treatments under many insurance plans; it also helped us make some changes to her meds and treatment that have helped keep healthy and gain weight. The down side, well, I know you read my previous post about our quandary of when to treat as if she had classic CF. If you do find yourself with a borderline diagnosis, well, the constant ambiguity can be exhausting.

Best of luck, and keep us posted.

 

[Momto3]

Dollbaby, do a google search on Primary Ciliary Dyskinesia.
 Here's a few links:<br>
<br>
www.med.unc.edu/cystfib/PCD.htm<br>
www.lungusa.org/site/pp.aspx?c=dvLUK9O0E&b=35690&printmode=1<br>

www.cheo.on.ca/english/9301c.shtml<br>
<br>
PCD has many characteristics of CF and a large number of PCD
patients were tested multiple times for CF before receiving the PCD
diagnosis.  Nasal polyps can happen in children with
PCD and ear problems are the norm.  I'd definitely still
follow through with all the testing for CF, including an extended
genetic panel through Ambry or Quest Diagnostics, but, in the event
you still do not have answers, request a cilia biopsy for PCD.
 One more thing, the nasal potential difference test should
shed some light.  NPD is highest in healthy controls, lower in
CF patients, and even lower in patients with PCD.  Also,
carriers of the PCD gene will have scores that fall between healthy
controls and CF patients.  If his numbers come back really
low, and are lower than typical CFers, then really push for the
nasal biopsy.  Good luck.  Oh, one more thing, we were
told by our doctors that two contradictory scores on a sweat test
warrants a third sweat test, so I'd probably request one more, just
to verify that the 2nd test was correct & first one was wrong.
 <br>
<br>
(Mom of 3 who is still seeking diagnosis, too)<br>