...more pcd questions

Hi, Most of you know from previous posts that my 2 yr. old, Olivia, was diagnosed with pcd in January. We’re still absorbing lots of information and are still awaiting our 1st geneticist appt. (Apr. 10th), and her 1st pulmonologist appt, (Apr. 16th). This past week, we took our oldest daughter,(14), to Livvi’s Ann Arbor ENT to see about doing a biopsy for pcd. She had LOTS of pnuemonias, lung issues& asthma when she was younger, and now she just mainly has a chronic bad cough, catches everytning that comes along & is always fatigued. Even though she doesn’t seem to have sinus problems, we thought we’d start with the ent, because he is the one who would do the biopsy and because we didn’t have a pulmonologist yet. He ordered a sinus cat scan even though we told him her issues were with her lungs, not sinuses. At our appt. this week, he said that her sinuses looked great, so he was not going to do a biopsy right now. He would wait until she started having any problems. He said that her chronic cough could be from un-controlled asthma and said we could go to a pulmonologist to have her asthma assessed. We went ahead & made the pulmo. appt. for Tori too, not only to have her asthma assessed, but to have the condition of her lungs assessed and to see if he thinks a ciliary biopsy was necessary. Does anyone know if a 14 yr. old would have indications of pcd in their sinuses, or could their problems be centered in their lungs and their sinuses look good? We were not very satisfied by the ent’s knowledge of and approach to pcd. When we asked him what the worst outcome may be if she did have pcd and we did not do the biopsy now to diagnose now, but waited a couple years, he said nothing-the only consequence might be that if she needed to have sinus surgery & the Dr. didn’t know that she had pcd, he would put the “windows” in the wrong place. He said absolutely nothing about the lungs! From the many things I have read about pcd, I know I read somewhere that even if a child did not have symptoms, just having a sibling who has a confirmed diagnosis of pcd, is reason enough to do a biopsy to find out. Is this right? Now we’ll probably have to wait at least until May, maybe June, to get Tori to the pulmo. They didn’t give us the date yet. Thank you for any input or opinions.
Livvi finished her 10 days of strong stuff,(augmentin), a week ago & has been taking low dose Bactrim for a week. Her nose is now bad again, (sneezing thick, goopy green-sorry), but she’s not acting too sick yet. Do you think I should call & recommend she gets another round of strong antib. or wait a little bit to see how she does? I don’t want her to develop resistance. Thanks!
Missy (mom to 4 girls- 14-possibly testing,13, 6 & Livvi 2-PCD)

Michele, just wondering, those with SI, can have
bronchiectasis, sinusitis, too without having cilia
problems right…just like I have two friends with
bronchiectasis, who do not have pcd, one has
since passed away in her 60’s and another friend
is very ill in her 40’s…they do not have the
SI, sinusitis, or otitis media…so my question is,
withany SI, with bronchiectasis, sinusitis, otitis media
is that an automatic KS…I wish it were that simple
for those without SI. And then some tests are
still inconclusive…let’s hope that NO test comes
out to be a good test for PCD…in the future.
----- Original Message -----
From: “mmanion” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Saturday, March 01, 2008 11:33 AM
Subject: Re: [kartagener] …more pcd questions

Hi - I am Marilynn, a 65 year old with Kartagener’s. I am totally
reversed. Imagine my surprise when I had a colonoscopy and they had
to turn the table around as the sphincter is also tilted to the
opposite side. I have been on a regimen of 3 Azithromycin a week
for several years now; 500 mg. each. My pulmonologist said studies
showed that this helps and I have not been very ill for a long time.
I have also had sinus surgery (2 times) and if I did not have
Kartagener’s the first surgery would have taken care of it forever.
On Mar 1, 2008, at 11:10 AM, momto4girls wrote:

It would be cool if you are near one of the research
centers for PCD, to see why you have done so well.
Did you work and retire…

----- Original Message -----
From: “brooklyn” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Saturday, March 01, 2008 12:50 PM
Subject: Re: [kartagener] …more pcd questions

Hi Missy,

It sounds like your frustrating saga continues. In a nutshell, if you have one child with confirmed PCD and another one who is symptomatic–even if it’s not “classic” PCD symptoms–there is no excuse not to test for PCD. We have plenty of cases with siblings where one presents with different or more severe problems than the other. PCD is a disorder with variable presentation. The three main problem areas are lungs, ears and sinuses, but within those categories there can be tremendous differences–even in the same family–with disease presentation. It is very possible for one child to have more lung trouble than sinus trouble. It is also possible for the sinuses to look good on a CT scan one week and look lousy a month later. In Meghan’s case, she seems to switch back and forth with lungs being the main problem for a couple of years and then sinuses being the culprit for a couple of years. There’s a great ENT doc down at Mayo, MN–Laura Orvidas. We took Meghan in to see her and they thought that she may need to have surgery. We hesitated, Meghan did her sinus rinses religiously, and at the follow-up appointment, her sinuses were clear. Of course they filled back up again eventually, but the point is that one CT does not provide the whole picture and clear sinuses on one visit does not rule out PCD.

I wish we had a more comprehensive genetic test to offer–it would make this so much easier. As it is, I would recommend the test, but it only picks up 30% of cases and it doesn’t sound like your current docs would not be too interested in doing additional testing if it turns out you are not in that 30%. I can guarantee that if you take your diagnosed daughter to one of the study sites, they will want to evaluate any other children who are symptomatic and maybe even children who don’t appear to have symptoms.

One problem we are trying to address is the practice of having ENTs do the biopsies. It would be preferable for a pulmonologist to be in charge of ordering PCD biopsies and even performing the biopsy (it is a very simple procedure if properly taught). We seem to run into an awful lot of dismissive ENTs. It could be because most of them are surgeons whose practice philosophy is focused more on one-time corrective medicine rather than pulmonologists whose main practice involves chronic illness. It’s not that ENTs are wrong–they just are trained with a whole different way of looking at illness (surgeon vs. medical person) and, generally speaking (there are, of course, exceptions) we seem to have more success when a pulmonologist is running the show. Is there any way you could convince your pulmo to order or even do the biopsy on your other child?

Also, if the children are given powerful antibiotics shouldn’t they be on
probiotics as well? I know being on a lot of antibiotics can kill a lot of
the healthy bacteria as well causing other issues and the latest information
suggests possibly even depressing their immunity.

-----Original Message-----
From: mmanion [mailto:kartagener-cpt7965@lists.careplace.com]
Sent: Saturday, March 01, 2008 12:34 PM
To: shelagham@cox.net
Subject: Re: [kartagener] …more pcd questions

I think the majority of children taking prophylactic antibiotics are taking probiotics, as well. If your doctor doesn’t recommend them–a lot of them do–you can acquire them yourself. Mary Kay Fowler has access to a very good brand called Metagenix and there is an over-the-counter brand recommended by National Jewish. I have to look up the name and then I’ll post it.

Just be sure that you let your doctor know about any supplements you are taking because there are potentially serious interactions–even with common supplements. For instance, calcium binds to certain antibiotics making it impossible for your body to absorb the antibiotic. Someone needs to be looking at the whole picture.

Hi - I retired in 1997 when my husband had a stroke and I am a
primary caregiver for him. My last job was a school secretary for 15
years. My health has changed alot in 5 years. I am SS disability;
breathe at 30% of my capacity; use the Vest and oxygen at night.
Just came off a week of prednisone as my wheezing was bad and now
it’s 5 lbs. heavier. I have 32 hours a week of help with my husband
and would be lost without it. Getting him cleaned up just does me in
so badly. I am tired alot and the Phoenix summers really do me in.
I don’t even like to go outside. I have a good lung dr. who listens
to all of my concerns and does his best to help me.

On Mar 1, 2008, at 2:04 PM, betts wrote:

well then you are doing good, sounds like you
are not on Oxygen, and Arizona has helped some??
I live in Phoenix too…do you read the ks/pcd forum,
we have a neat lung group at j c Lincoln hosp…
I put the info on the forum…
go under Yahoo groups
and type in Kartagener Syndrome
maybe I will get to meet you there…In April
they hope to start a harmonica group…
Yes I am like you , I do not do well during the
monsoon…I moved from Seattle in 1967, since
my docs thought I would not live long in Seattle,
if I stayed there much longer…even when I was
born, the doctor’s wanted my parents to move
to Arizona but there were no Children’s hospital’s
here…and soon there will even be a bigger one here.
Children’s in Seattle started me on PT, even at 2 years
old…frequent ent visits…allergy specialists…etc…
bronchiectasis at the age of 2…

----- Original Message -----
From: “brooklyn” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Saturday, March 01, 2008 5:13 PM
Subject: Re: [kartagener] …more pcd questions

I am too short of breath, my peak flow wants to
fluctuate between 130 to 150…I just got a steroid
shot…then I got exposed to some smoke near
the grocery store, and that set me back, I also
just got off of IV antibiotics…
Anyway on yahoo you can privately e mail me…
the Better Breathers meets
at 2pm 4th Thurs of the month
on 2nd st, North of Dunlap, Cowden Center…across
the street from J C Lincoln…
sorry about your husb…i know it might be hard
for you to get out…but MIke is also starting
a breathing and a harmonica group, maybe you
saw them on TV a few weeks ago.
----- Original Message -----
From: “brooklyn” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Saturday, March 01, 2008 5:13 PM
Subject: Re: [kartagener] …more pcd questions

I appear to need my oxygen more on exertion
or out on the day…but about summer…I go to visit
my family in Seattle…in August, but would you
believe when I get back to even monsoon in August,
there is a difference…
Seattle is beautiful, no doubt…but in their summer
it is humid, probably because of all of their lakes
too…something I miss…
----- Original Message -----
From: “brooklyn” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Saturday, March 01, 2008 5:13 PM
Subject: Re: [kartagener] …more pcd questions

I am only using oxygen at night. I am not supposed to go over 6000
feet though without it. I think there is so much dust here that it
complicates my health. Look how dusty your house gets in a day. I
had the lower half of a lung removed in 1979 to get rid of the
bronchiectasis - that is what they did then. When I moved from NY
drs. told my parents I would only last 5 years if I stayed there.
That was in '63. I was always ill as a child - used to get mustard
plasters, shots, powdered med in water. I lived in So. Ca. for 11
years and was ok at that point. Miss the ocean alot.
On Mar 2, 2008, at 8:03 AM, betts wrote:

Me too, Lake Washington…anyway hope you
can sign in on the yahoo group, you will also
meet others our age…amazing huh…Ah yes,
I remember the mustard pads…I am afraid I started
to need oxygen at 2000 feet about 10 years ago…
I also had two lobectomies…lower let 13 yrs
and 4 yrs rt middle lobe…but I had severe bronchiectasis
too, and not expected to live…
I also have an immune deficiency, so I get IVIG for
that also…anyway, I hope to see you at the lung
----- Original Message -----
From: “brooklyn” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Sunday, March 02, 2008 10:05 AM
Subject: Re: [kartagener] …more pcd questions

Hi Missy,
I’m new to this site, but have had KS for 51 years.
I have a sister who is perfectly healthy and a brother who also has KS.
Does your oldest daughter have a productive cough?
If she is doing alright and doesn’t have a productive cough, I don’t see a critical need for a biopsy.
There is no cure for this condition, so most of the treatment is reactive and basically done when an infection occurs. If she’s feeling O.K. and not having symptoms, I wouldn’t want to be putting her on a bunch of medication, especially at such a young age. I would concentrate on some measures such as healthy diet, mild exercise, positive emotional health.
Definitely take her to Pulmonologists and rule out Asthma and any other lung problems and probably allergies.
Personally, I can’t imagine not having any problems with your sinuses if you have PCD. I could certainly be wrong, but when your cilia doesn’t work it pretty much creates constant problems. There are varying degrees of the disease, but not to have any symptoms seems odd…again, I could be wrong and I would not want to discourage you from taking her to a pulomonary physician who could guide you better.
Best prevention is the postural drainage/percussion for a productive cough and the sinus rinses for thick mucous drainage in the sinuses. I’m not sure what they prescribe for todders, though. You will want to be very careful about using too many antibiotics, especially at a young age. I have developed resistance to some antibiotics from chronic use.
Are you doing the postural drainage for Livvi? I don’t know if you can do the sinus rinses on a 2 year old or not…I would ask your doctor about something like this. If I had known about this earlier in my life, I think it would have made a big difference.
The less Livvi has to take antibiotics the better, but you also don’t want an infection to get out of control…so doing the natural preventive things like postural drainage and sinus flushes is critical. Exercise is really good to keep the muscles & lungs strong. I could never run, but walking, biking, roller blading or swimming is very good exercise. It would be a good family habit to get into.
Well, I’ve rambled on enough. I hope things go well. Good Luck and stay positive.

Actually a test without SI, is important…
There is research going on now, at
I know with reversed organs, it is easier to say
one has PCD with SI…But when one does
not have reversed organs, still a diagnosis is
helpful…for one reason, many are unable to have
children…with cilia dysfunction…primary…
There is also a parent and adult group for pcd
on the yahoo groups…to meet others …
I do not have reversed organs, and in fact was
not tested until I was 48…but at least it sure
helped me know why I was still getting ear and
sinus infections…
There are other tests, also that the pcd foundation
rules out is Immune deficiency…just with an iga
deficiency is a cause for sinupulmonary disease
igg deficiency, one can improve with IVIG replacement.
and of course Markers for Cystic Fibrosis…
I started postural drainage in 1946…I have had
two lung surgeries, my first sinus surgery was at 12…
ear drainage…If I would have had an earlier diagnosis
in grade school, I might have gotten more help
with missing school…I missed allot…my hearing problems
were blamed on my sinuses…so nothing was
really done…
For me I did move to Arizona…when the air was
cleaner…from Seattle…weather makes a difference
for me, too…some do better in humid weather, I do
better in dry weather…
And exercise, yes I use to ski, play doubles tennis,
but as I got older, I got on oxygen at 60 years old…
and I still go to the exercise place several times a
week…exercise to get that mucus up too, is so
important…having a Vest has helped me too.
The research is trying to diagnosis with an easier
test called the NO test…but need more research…
Maybe you and your brother could also sign
up for research…we still need more that don’t have
reversed organs…it is 50/50///they say…50 per cent
without SI, and 50 per cent with SI…
but you and your brother make it 100 per cent…
maybe statistics will show up differently about having
PCD…primary cilia dyskinesia
----- Original Message -----
From: “kare bear” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Sunday, March 09, 2008 2:41 AM
Subject: Re: [kartagener] …more pcd questions

Hi Missy,

Were you ever able to get in touch with UNC or one of the other sites? I'd be curious to hear their take on whether your older daughter should be tested. My guess is they would recommend it, to rule out her carrier status or other underlying problem if nothing else. It is not at all uncommon for even unsymptomatic siblings of known PCD patients to be tested.  My son--who has no PCD symptoms--has been tested and from our participation in the study, we now know that he is a PCD carrier. Just being related is now a criteria for payment for the genetic tests that are available, regardless of symptoms.

It's true that there is no cure for PCD or PCD w/SI, but the goals of treatment have changed very much in the past decade. In good centers, the treatment plan mimics what is done in CF with a focus on close follow-up and prevention rather than treatment after the fact. Granted, there are limitations to what can be done, but early evidence suggests that people who have gotten good, prophylactic care seem to experience a slower decline in lung function loss and acquire the nasty bugs later in life--giving them clear quality of life advantages.

Since there is no cure, prevention is the only card we have and early, accurate diagnosis is crucial for directing treatment AND for getting insurance to cover it. This is another reason it's important to follow at a CF center or with a doctor with specific bronchiectasis experience. The CF model of preventive care is unique in medicine. Doctors are trained to treat symptoms--not to try to stop symptoms from developing, which is the goal in CD/PCD care. The CF Foundation worked for years to establish preventive care and spent hundreds of millions of dollars to demonstrate through research that it is effective. We are in the fortunate position to take advantage of the groundwork they laid. Unfortunately, PCD is too often treated like asthma or COPD rather than CF. I hear from adult patients all the time that their pulmo docs (usually adult docs who are COPD specialists) say "it's bronchiectasis, it's irreversible and there's nothing more I can do for you."' We refer these people to CF centers and they generally are amazed by what aggressive care can accomplish. Yes, most bronchiectasis is irreversible, but it is simply not true that you have to passively allow it to destroy your lungs. It is possible to slow the progression and even to recover some lost function with the proper care. We had one young man who, although diagnosed with PCD, never had any preventive care.  He was not told about airway clearance and his antibiotic treatment consisted of the pulmo, an adult COPD doc, throwing some oral drugs his way when he got pneumonia. His health declined rapidly and at the age of 32, he was referred to a transplant doc for an evaluation. This doctor happened to also be the director of the adult CF center at this university. They immediately put this guy in the hospital, started him on IVs and round-the-clock Vest therapy, and at the end of a month, he had improved so much he was no longer being considered for transplant. Was he cured? No. But he was able to recover quality-of-life he thought was gone forever and to delay his lung transplant (which he eventually did have done) by five years. Both of these doctors were board-certified adult pulmonologists, but the approach to care in PCD was drastically different.  Everyone with PCD deserves this kind of aggressive intervention and if you're not getting it, it may be time to consider finding a doctor with a more positive outlook on treating bronchiectasis. 

Doctors who focus on asthma and COPD may not have much experience with bronchiectatic disorders like CF and PCD, because while bronchiectasis may occasionally develop in asthma and COPD,  it is a not a recognized hallmark of them like it is with CF and PCD. FYI--I know this comes up a lot so for clarification purposes, bronchiectasis is actually not all that common in "true" COPD--if the official definition of COPD is being used accurately.  As far as the government is concerned and for reimbursement purposes, COPD ONLY refers to smoking-related emphysema and chronic bronchitis. Bronchiectasis is not part of the accepted COPD definition, although it can occur in those with chronic bronchitis. If your doctor is treating you like a COPD patient, you may want to consider looking for someone with bronchiectasis experience instead.  If you are being coded for insurance purposes as COPD, you are being anonymously and erroneously [unless you were a smoker at some point] entered into goverment stats on smoking-related disease. Granted, the terminology is really bad--PCD and CF are chronic, obstructive pulmonary diseases, but for the purposes of insurance coding and collection of statistical data, they are not COPD.  Because misuse of COPD coding is screwing up statistical data collection efforts, the govt is starting to crack down on use of this term, so be aware that, if you have been diagnosed with COPD in the past, you may "miraculously" recover from it in the near future when the code disappears from your medical record--unless, of course, you were a smoker. 

Regarding ENT involvement in PCD biopsy--I can count on one hand the ENTs who have actually expressed an interest in PCD research and who actively keep up-to-date on PCD.  There may well be more out there, but they are not attempting to contact either the PCDF or the only PCD research network in the country, so they are flying solo without much crucial input.  Because of this and because we have tried on numerous occasions to engage the ENT community through their professional organization to no avail, my personal bias is that ENTs should not (generally speaking--of course there are exceptions) be making this call. By far the most life-threatening aspects of PCD involve lung health and a  pulmonologist experienced in CF, PCD or bronchiectasis really needs to be coordinating care. In the case of your older daughter, it would be unusual for someone with "classic" PCD to have no sinus disease, but if she does happen to have PCD, that information would be very important to our understanding of the disorder. Some pulmo's think that the biopsy procedure has to be done by an ENT because it involves going into the nose.  This is not true.  It is a fairly simple procedure and all the pulmo's in the research network are trained to do it themselves. Johnny Carson, PhD at UNC has said he will work with any doctor interested in learning how to collect and prepare a specimen. He can "talk them through" the process long distance. If your pulmo is interested, I can get the contact info for you.

I hope you included my ENT, that was in the 90’s…too…

----- Original Message -----
From: “mmanion” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Sunday, March 09, 2008 11:20 AM
Subject: Re: [kartagener] …more pcd questions

I don’t know if you went to the Respiratory Rally
in Mesa yesterday…but as one resp therapist, I did
not go…but have been before…even Mayo had
bronchiectasis under COPD…anyway…it is youf
PFT scores that get you with COPD…not all
people with copd…are smokers either.
The thing is bronchiectasis is not as prevalent as
it was 20 years ago because of better medications
that now treat pneumonia. I now have nurses who
don’t know what Bronchiectasis is…the thing is,
it is easier to lump everything under one illness…
CF is CF…and covers all…It would be nice if PCD
became a Dx on it’s own too…the thing is when
you get admitted into the hosp…might be different
for those with reversed organs though…your dx is
going to be pneumonia, copd, asthma…sinusitis…
otitis media…to other’s, finding the right dx, would
mean getting coded for PCD also…so it is important.
With the nurses I come in contact with when I had
home iv’s, not one nurse knew what pcd was, one
suggested that I drink more coffee to move the cilia…
so it is a rare disease…to be certain…nurses though
have heard of Ks…so how I explain it , I don’t have
Ks but I have the same cilia problem…
----- Original Message -----
From: “mmanion” kartagener-cpt7965@lists.careplace.com
To: elizabethashley@copper.net
Sent: Sunday, March 09, 2008 11:20 AM
Subject: Re: [kartagener] …more pcd questions

Hi Betty,

PFT scores alone can not determine COPD. They can determine if you have an obstructive pulmonary disease and, over time, they can verify that it is chronic, but this is not the same thing as “COPD.” It is exactly this sort of misinformation that that National Inst of Health (NIH) is trying to change. Again, as far as the govt is concerned, COPD as a diagnosis is only applied to smoking-related emphysema or chronic bronchitis. The only caveat to this is some genetic forms of emphysema like Alpha-1 antitrypsin. Bronchiectasis can occur in COPD, but it is not one of the major diagnostic criteria (there are only two–emphysema and chronic bronchitis) and if someone with true COPD also has bronchiectasis, they should probably be ruling out other potential underlying disorders just in case. BTW, asthma is also a chronic obstructive pulmonary disease, characterized by PFT changes. Like PCD and CF, however, it is not related to smoking and it has a different underlying cause so it is not considered to be COPD, even though the PFTs of asthmatics and COPD patients look very similar. PFT’s alone are not diagnostic.

COPD patient groups often include a laundry list of conditions in their definitions of COPD. However, they do this to encourage more funding and who can blame them? The problem with this is that this approach does not encourage people to look for the causative factors or underlying conditions. This hurts the groups representing other underlying conditions and doesn’t really add much to the data the COPD groups collect. For instance, let’s say that someone with “cilia-related” bronchiectasis was diagnosed with COPD and made a major donation to a COPD organization for research. Because this person’s underlying diagnosis has nothing to do with smoking-related lung disease, the data collected will be of questionable value (comparing apples to oranges) and money that could have been spent researching aspects of the actual cilia-related underlying disorder will be diluted and redirected to topics that may not even be related to the donor’s disease. This is problematic on lots of levels and, yes, it has happened. That’s why getting the diagnosis and the terminology right is so important.

From the Horses Mouth: I have spoken directly with Jim Kiley, MD, Director of the Lung Division of the National Heart, Lung and Blood Institute (NHLBI) about the possibility of including PCD, idiopathic bronchiectasis and some other disorders in their umbrella definition of COPD so we could benefit from the hundreds of millions of dollars being thrown at COPD right now. He was resolute–the NIH definition of COPD for the purposes of research funding and insurance coding only refers to smoking-related lung diseases. Period. (In other words–we’re not getting any funds). When I suggested that PCD is, in fact, a chronic obstructive lung disease, and that if they were going to be so narrow in their definition of “COPD” they might want to consider revising the terminology, he just laughed and stated that “all doctors KNOW that COPD only refers to smoking-related illness.” Clearly, he has that wrong, based on what happens just in our group, but there was absolutely no question about the NHLBI and NIH position on this–PCD and CF are not COPD. We don’t have to agree with them on it, but we do have to recognize the “golden rule.” Right now, they are the guys with the gold so they get to make the rules and, unfortunately, what you think or what I think–or even what our doctors think–about COPD is irrelevant.