Hi, My 2 yr. old daughter was just diagnosed with PCD about 2 wks. ago after a sinus irrigation & ciliary biopsy. Her severe, chronic issues have mostly been sinus infections, no lung issues yet. I’m wondering if she is destined to have lung problems/pnuemonia eventually with this condition, or could the problems just stay in her sinuses? She’s so young. I just want to know what I can expect. Thank you! Missy, mom to 4 daughters, 14, 13, 6 & Livvi 2- PCD
Hi Michele, I have a question…does PCD have to have
short or long arm defects…to be PCD…or can it just be immotile
I have a KS friend, who has bronchiectasis and has Immotile cilia…
and has Ks,…with pcd…
is there a difference…does the cilia have to be defective…? To be
PCD…after all "immotile cilia was what it was first called.
Does anyone know if living in a warmer climate, (than Michigan), has any impact on the severity of PCD symptoms and complications? Missy, mom to 4 girls (14, 13, 6 & Livvi 2 -PCD)
Hi Betty,
I'll start by saying that everything below is the best current available information. As we all know, PCD research is an evolving process and ideas, terms and concepts about PCD are subject to change. That said, this is what we know about PCD now:
Any inherited defect of cilia that leads to impaired ciliary activity is categorized currently as PCD regardless of what motility issues are involved. The key is that PCD is inherited--genetically based-- and the ciliary impairment must be related to altered proteins for it to be considered PCD. People with PCD have impaired motility, but impaired motility alone does not mean you have PCD.
Re: short and long arms, dynein arm defects are just one possible ultrastructural problem in PCD. Cilia are extremely complex. There are more than 200 proteins in a single cilium and more than 700 if you include the basal body (base) of the cilium. Defects in any of these proteins could potentially lead to the clinical syndrome we call PCD. Dynein arms account for a number of those proteins and defects of the dynein arms are the most commonly recognized structural defect in PCD. However, PCD can be caused by proteins that affect any of the other ciliary structures, as well, including the central apparatus, radial spokes and nexin links. All PCD genetic defects, regardless of what structure is affected, will lead to motility problems but different defects may result in different motility patterns. For instance, outer dynein arm defects seem to be implicated in most (but not all) cases of situs issues because the motility impairment in outer arm defects is profound and the defective motility of the nodal cilia in people with outer dynein arm defects means that organ placement is random in these people. This does not appear to be the case in other PCD mutations and people with PCD caused by defects in the central apparatus or radial/nexin bodies are not as prone to situs issues--at least in preliminary data. The other important thing to remember is that loss of motility does not necessarily mean worse clinical disease. There are people with PCD who appear to have fairly good ciliary motility but who have very serious clinical disease and people with "immotile" cilia who have mild disease. It's not a one-to-one correlation by any means.
Many people have been told they have "immotile" cilia or were in fact diagnosed with "immotile cilia syndrome." Since the 1980s, people involved in PCD research knew this term was not accurate. Almost all people with PCD have some motility--it is just really impaired or dysfunctional. A few may truly have no ciliary function, but again, that does not mean that they will be sicker or have worse disease than others. Frustratingly the term "immotile" cilia persists among doctors who are not up-to-date with the research. From the standpoint of the diagnosis of PCD, it does not matter whether your cilia are truly immotile or not--the diagnosis is based on the presence or absence of the proteins that make up ciliary strutures and not on ciliary motility. From a practical standpoint, if you know a doctor who is still using the term "immotile cilia syndrome" instead of PCD, it is probably time to look for a new doctor. A very brief review of the literature is all that is required to figure out that this term is obsolete. If he/she isn't even bothering to do that, it is pretty certain they aren't keeping up with even minimal PCD research, much of which is new and is very important for directing care.
The terminology thing is confusing I know. The simplest thing to remember is that KS, "immotile cilia syndrome" and PCD are terms that refer to the same disease. The reason the term PCD was introduced in the 80s was to put an end to the confusion over the cause of cilia-related disease. Clearly, that didn't work well. Here are the important points:
1.) People with KS have PCD with total situs inversus. That is all KS means. So to say they have KS AND PCD is like saying they have PCD with situs inversus and PCD. It is redundant. You can't have the diagnosis of KS unless you have PCD. So it is automatic--if you have KS you have PCD by default and it is the PCD, not the situs inversus, that is responsible for your illness.
2.) People with PCD who do not have total situs inversus (even if they have other situs problems) do not technically have KS, even if that is the term their doctor has used. KS is an old term that means "PCD with total situs inversus." Because it confuses the underlying cause of the disease and excludes the majority of patients with PCD, including people who believe they have KS but who actually don't meet the inclusion critieria, it is probably time to retire this term in favor of something more accurate. Before y'all shoot the messenger here, that is not my idea--that's the feeling of the medical people working on PCD research.
3.) I've read in various places, mostly from patients and "lay" rather than professional people, that KS "is the most severe" form of PCD. This is patently false. Situs inversus totalis, the only form of situs that qualifies for KS, does not generally result in any clinical problems (although it can if there are cardiac issues). If anything, an argument could be made that people with PCD and situs ambiguus (who do not technically qualify for the diagnosis of KS) are prone to more severe disease because they are more likely to have problems with major organs. From a strictly practical measure, we have had more individuals with PCD and normal situs advance to lung transplant than those with situs inversus. There may be other reasons for this, but it definitely belies the notion that KS makes for worse disease.
4.) Refer to number 1. Same underlying disease. Different name.
Hi Missy,
My name is Michele Manion and I work for the PCD Foundation. If you get the chance, please check out our website at www.pcdfoundation.org. There is lots of info on the site that you may find helpful.
From what we know now, the development of bronchiectasis (permanent lung damage) appears to be universal by adulthood (Noone, et al). However, the people included in the studies that show this had severe enough disease to have been diagnosed, so it’s possible that this is an example of what is known as “selection bias,” and does not truly represent all features of PCD. As most of us know, PCD is frequently misdiagnosed and even people with severe disease may not be diagnosed until adulthood. It is certainly possible that milder forms of lung disease have simply never been diagnosed and are therefore not included in studies. Diagnosis is getting better so we may well start to see other disease presentations.
One thing to consider when you wonder if the problem can be contained to her sinuses alone is that the sinuses are part of the respiratory tract and are connected, indirectly, to the lungs. Sinus infections can “seed” lung infections, which doesn’t always happen, but it is pretty much impossible to totally separate the two areas. Was your daughter diagnosed by an ENT doc or a pulmonologist? If she is not seeing a pulmonologist yet, I would strongly recommend that you find one she can follow with–preferably someone who is familiar with cystic fibrosis treatments since many of those treatments are also used in PCD. If you need help finding someone, contact me at the Foundation and I’ll see if I can find someone in your area. Since she’s so young and seems to have good lung function for now, this is the ideal time to get her started on preventive therapy to delay (or maybe even stop?) the development of bronchiectasis.
Does she have ear problems in addition to the sinus problems? Did she have any respiratory problems at birth? Does she have unusual organ placement like situs inversus? Sinus problems alone are a fairly unusual presentation for PCD, so I’m curious what prompted the biopsy. Maybe it was the severity of sinus disease in such a young child?
Hi Michele, Thank you for responding so quickly. As soon as she was diagnosed, I googled PCD and read tons of info. I also visited the PCD Foundation site. Olivia was diagnosed by her ENT who did the ciliary biopsy while he was doing a sinus irrigation. They used an electron mic., and he was able to tell us immediately after the surgery that her cilia do not move at all.He said it was what he suspected all along. We are currently going seeing this ENT and also some Immunologists at the U of M Children’s Hospital in Ann Arbor, Mich. (about 1 1/2 hours from us). We do not have a Pulmonologist yet, but I think they will be assigning us one at her Immunologist appt. next Friday. We talked about that briefly on the phone. They said we would have lots to talk about at this appt. & also possibly talk with a genetic counselor. Olivia did not have any respiratory distress at birth or any real health problems right away, just a few “colds”. We do remember her being a “rattly” breather as a baby and also having a stuffy nose often, but no one ever seemed concerned about either. Ear infections have been occasional, but not chronic. She started getting very sick at about 18 months with fevers, constant bad nose, vomiting & diarrhea, catching everything that came along. It gradually got worse until she was about 23 months. She had already been on lots of antibiotic, but was still very sick, high fever & lethargic. I took her to her Ped. and he immediately sent her to outpatient to get IV fluids & some blood drawn. It showed extremely high white blood cell count. She was very sick & dehyd. He admitted her for more IV antib. & fluids. She stayed for a few days & then was sent home with no cause found. This cycle of high fevers and sickness continued and resulted in a few more hospitalizations, each time getting longer and worse. She was tested for millions of things and many scary things were ruled out such as leukemia, but still nothing showed up except for her CT scans that consistently showed all sinuses were completely filled. They began to treat her with lots of cycles of antibiotics & she continued to catch everything & stay sick almost constantly. After her last hospitalization at the end of Oct. they finally sent us to Ann Arbor. Her local Ped. & ENT finally admitted that they thought there was something more than just a bad sinus inf. going on. The Ann Arbor Immunol. ran lots of tests & found her Immunogl. levels and all to be normal. They gave us Pepcid for possible reflux & Zyrtec for her nose & suppression antiob., but sent us back to the ENT for the biopsy after she continued to get sick. She had her irrigation & biopsy on Jan 16th. & wer’re now waitning for our next Immon. appt. this Friday. Sorry for such a long post. I just wanted to give you her backround and see if you had any insight. She seems to be doing better right now. We just feel like we’re waiting for the next infection to hit. Thank you again, Missy, mom to 4 girls, (14, 13, 6 & Livvi 2 - PCD) Our oldest is also going to be checked for this at the end of Feb. Now that we know about Livvi, we’re suspicious of Tori, because she struggled with recurrent pneumonia, asthma, breathing problems, constant sickness as a baby, toddler & young child. Now, at 14, she’s doing better, but still seems to catch everything, is always tired and chronically coughs.
Hi again Michele, Would it be possible to get some contact info. for a Pulmonolgist in our area? We would like to have a couple of options to choose from even if Ann Arbor recommends one. It’s nice to have a couple or few to choose from. So you recommend starting chest clearance & breathing therapies right away even though she doesn’t have any lung symptoms yet…anything to avoid any further problems. We are in southern mid Michigan, very close to Marshall, also Battle Creek & Jackson. Ann Arbor is about 1 1/2 hrs. from us. Thanks again, Missy
Hi, Missy----
I’m Laurel, I’m 52, with KS (PCD with reversed organs also, or PCD/SI). I have an older sis who also has it.
We didn’t get a diagnosis til I was 21 and she was 25. I have been wearing oxygen for the past 6 years, partly because nobody “worried” about our junky lungs growing up, so they never gave us any treatment for them. We DID get treated for our sinuses, which were very bad (no antibiotics, but lots of allergy shots and some surgeries), and our ears (antibiotics when infected, and a couple of surgeries.)
My sister isn’t on oxygen yet, but she’s on disability, too. We are both willing to work and want to work, but the early damage done has taken that option from us. We don’t even know, when we get up in the morning, if we will still be at home that night; we may be in the hospital by that time. It’s a daily tightrope-walk, to stay healthy enough to be at home and not in a hospital bed.
I applaud your being persistent enough with your little one to finally get a diagnosis, especially while she is still young enough that you can maybe prevent her from facing a future like ours, and I am REALLY anxious that you get your older daughter checked ASAP, as living with PCD is an EVERY DAY effort. While your baby’s lungs may not “sound that bad”, as Michele, said, it’s nearly impossible to completely separate the upper from the lower airways (sinuses from lungs), as they are almost directly connected----it’s a straight pathway down the trachea from the sinuses to the lungs, and the only thing that prevents direct connection is the vocal cords—not exactly as secure as Fort Knox!
While her lungs may not SOUND too bad, damage is still probably being done on a daily basis—and preventing bronchiectasis is something that cannot be done in one day, or once a week. Prevention is not a one-time thing, and it is our ONLY option—there really is no actual treatment for it, once you have it—you just have to try to keep it from getting worse. It is an EVERY DAY effort— we PCDers don’t “get any time off for good behavior”, like prisoners do!
And if your oldest daughter has it, the sooner she gets on a good treatment regimen, the less permanent damage she will have, so the brighter her future will be. And if she does have PCD, she will already have sustained significant damage to her lungs (from your description of her health), so the sooner she starts getting treatment, the better she is going to feel, and maybe, the less frequently she will get sick in the future. She sounds like she’s had a rough time, like most of us.
All that said, I want to reassure you that, while your kids are never going to feel ‘good’ the way normal people do, they are going to find ways to live with this, and they will manage to build lives for themselves in spite of having PCD.
One of the very best things you can do for them as a parent is to find them things they LOVE to do that are active, and then do everything humanly possible to get them to do it. If they love basketball, be their biggest cheerleader; if they want to learn to dance, mortgage the house to get them lessons; if they love jumping on trampolines, set up a big one in the backyard, and teach them to use it properly. It doesn’t matter what the activity is----if it’s ACTIVE, and they will DO it every day, then it isn’t just exercise; it’s respiratory therapy!!
We have one young lady in the yahoo group who loves basketball—she plays in high school, and has done very well. I used to love to dance—all kinds, from international folk dancing to ballroom and country/western, and am STILL looking for a local group to dance with here, in spite of being on the oxygen. I love dancing enough to gasp and cough and drag my tank around the dance floor with me—THAT is the kind of activity they need to find for themselves, because being really active gets us coughing up a lot of the junk that just doesn’t come up otherwise.
I’m not knocking all the nebulizer treatments and such that we as PCDers do every day—they are a godsend, and I would have been dead years ago, without them. But exercise alone can do an awful lot. The problem is, when you are short of breath and coughing all the time, and exhausted to start with, it’s hard to make yourself get up and DO anything, let alone something really active. Which is why it’s important for them to find things they LOVE—the motivation has to come from inside them, to make that effort to get active.
Now, your little one is too small yet for any of those things, but she’s not too young to do things like blowing soap bubbles, or blow out candles, or have tickling fights, or sing songs all day long—all of these things are respiratory therapy, too,and none of them are expensive, either. And they’re all FUN. We have one kid in here (they aren’t sure if she has PCD or not) who can play the harmonica, holding it in her FOOT! She’s quite something, that one!
Life with PCD is not fun, but there’s still a lot of fun to be HAD, when you have PCD. The whole point is to get on a good regimen, one that helps you stay as healthy and feeling as good as you possibly can, and keep that UP, every day, for the rest of your life. THEN you can maybe feel well enough and be well enough to make a great life IN BETWEEN all the treatments and antibiotics.
Hope things go well and they get your youngest in to see a great Pulmo doc, and that your oldest gets checked out very, very soon. In her case, the sooner the better—you can’t do anything about any damage she’s already sustained, but you can certainly improve her future!
PLEASE let us know how it goes with them both, and YOU!
Laurel (52, PCD/SI, SC)
momto4girls kartagener-cpt7658@lists.careplace.com wrote:
Hi Missy,
Very interesting about your older child. If you would be interested, there is a national PCD study going on at six sites in North America. One purpose of the study is to look at PCD genetics and there is specific interest in sibling groups. There is no site in Michigan, but depending on where you go, there may be travel and lodging coverage for participating in the study. Here is a link for study info: http://rarediseasesnetwork.epi.usf.edu/gdmcc/learnmore/index.htm
I don’t know anyone from that area of Michigan, but the contact info for the CF Center in Ann Arbor is below and I’ll check with the pediatric pulmonologist from the University of North Carolina to see if they have a recommendation.
University of Michigan Health System (PEDIATRIC)
Ann Arbor, MI 48109
Appointments: (734) 764-4123
Director(s): Samya Nasr, M.D.
I think the general consensus from both parents and doctors who see a lot of PCD kids is that some form of airway clearance therapy is important in the really little guys regardless of whether or not there are a lot of symptoms. It is a primary treatment in older children and adults. It doesn’t even have to be pounding or vest therapy at first. Even just vigorous exercise like jumping on a trampoline or using an exercise ball can be helpful. Exercise is helpful in two ways–it opens up the airways and helps to move sticky secretions. Formal airway clearance therapies can be tricky for children as young as your daughter. When my daughter (now 25) had to have pounding therapy (CPT or chest physiotherapy) as an infant, she cried so much during the treatment that it seemed to be gunking her up more–not helping get mucus out. If you see a pulmonolgist familiar with CF they will have suggestions for you on this topic, as well and there are a number of families in the group who have come up with “creative” airway clearance ideas. There is a Yahoo group for PCD parents and you may get some ideas there: http://health.groups.yahoo.com/group/pcdparents/.
Missy,
I live about 1 1/2 hours from Ann Arbor and also have a daughter with PCD.? We have used the U or MI hospital system.? You can email me direct with any questions if you want.? My email is ABQ1EAR @aol.com.
Sandy
-----Original Message-----
From: momto4girls kartagener-cpt7658@lists.careplace.com
To: abq1ear@aol.com
Sent: Sat, 2 Feb 2008 12:58 pm
Subject: Re: [kartagener] 2yr. old with PCD- questions
Thank you so much Laurel, Michele and Sandy for your responses. You have given me much to consider, and Michele, after reading your last post, I’m concerned about the fact that both Livvi’s ENT AND her Immunologist used the term “Immotile Cilia Syndrome” when telling me her diagnosis! These are supposed to be top notch Drs. at U of M, and this tells me they have not read any current info. about this disease??? …or could they just be using old terminology out habit? I am concerned about that. Thanks for all your help everyone. I’ll keep you posted on the outcome of Livvi’s appt. next Friday. Tori’s appt, (14 yr. old), is not until Feb. 25 to consult with the ENT and get a CT scan. A biopsy would probably be scheduled at a later date they said. Laurel, now I am thinking that I should really be pushing for chest x-rays and for them to do the biopsy asap, right? Thanks, Missy
Hi Missy,
It is concerning when we hear that doctors are still using “immotile cilia syndrome,” but it is probably unrealistic to think that all of them can be up-to-date on a disorder that they encounter as infrequently as PCD. For a lot of these folks, they heard about “immotile cilia” in one lecture in med school 20 years ago and they just don’t see it enough to spend a lot of time learning any more about it. It doesn’t mean they aren’t good doctors–just that they have not been following developments in PCD research. The most important thing is to have a pulmonologist who is familiar with the disorder and I’m guessing that if you go to a CF clinic for pulmonary care, they will know about the name changes and be more familiar with currently accepted notions about PCD.
thanks Michele…I guess this is why we are so different…
But for the mother who asked about warmer weather, since I am
older, and in the 40’s when I was born, everyone was sent to
Arizona…My dad said, No, because there was no children’s hosp.
Seattle had one…when I was old enough I moved to Arizona in 1967.
LIke my friend Glena who also moved to Tucson when a teenager,
we both agreed the move had saved our lives…and or let
us live longer…Today there are better medicines, I know I do
better with allot of humidity and wetness…produces more mucus…
in ears, etc…sinuses…I had bronchiectasis at the age of 2…two
lung surgeries, sinus surgery, ears…I worked in PHx, for 32 years…
the thing is, going to work , if i had to do over again, I would
have worked for the Post office or educational system, at least
they have life time pensions and some with secondary ins…even
my friend that has Motorola…does pretty good on her retirement.
I guess that is my suggestion with someone with a chronic illness.
as a child…but as you can see I have not moved back to
Seattle…I do go back for a visit in August…Dad said they
are having a terrible winter…just glad I am here watching
the Phoenix Open…in Sunny Phoenix.
I am also on IVIG, so I have a dual diagnosis…combined Immune
deficiency and PCD. i have not had a NO test , only nasal bx…
Hi, Missy—
I think it varies tremendously from person to person. I have lived in New York, New Mexico (high-altitude desert), Virginia, and South Carolina. Personally, I do better in colder, dryer climates than in hot, humid ones, but for me the hardest thing to deal with isn’t temps but humidity. The higher the humidity, the tougher time I have of it. Others in the group are the exact opposite of me, though, so it’s really an individual thing, I think.
Laurel (52, PCD/SI, SC)
momto4girls kartagener-cpt7658@lists.careplace.com wrote:
Hi, Missy—
Well, look at it this way; Tori has survived for 14 years, a few more weeks isn’t likely to KILL her, and I’m sure I tend to be a little over-zealous. But the way I see it, Tori has had 14 years of feeling lousy and sick, and also 14 years of probable lung damage, so the sooner she gets looked at and gets treatments started, the sooner she can maybe start to get and feel better.
Knowing what my own youth was like, I am a firm advocate of trying to help save the younger generations of PCDers from going through what my sis and I went through. I often wonder today whether I’d be on oxygen QUITE yet, if we had had some sort of prevent lung treatments when we were young. Even without a diagnosis of PCD (which hadn’t yet been identified, back then) or KS, they still COULD have tried us on nebs and inhalers, or at least CPT for the lungs, and who knows? If they had, maybe I’d be in much better shape now.
So I tend to urge parents of PCD/possible PCD kids to push until they find someone who can help the kids feel better, and maybe prevent some of the damage----because there’s no way to fix it, really, once you have it. Some of us have been lucky enough to have the bronchiectasis confined to one or two areas of our lungs, and so have been able to have surgery to remove those areas. But it’s much more common for the bronchiectasis to be diffused throughout the lungs—and there’s no way to fix that.
So I’m really push parents to try to prevent as much damage as they can WHILE they can. It’s the greatest gift you will ever give your PCD child—a better FUTURE!
Laurel
momto4girls kartagener-cpt7658@lists.careplace.com wrote:
Thank you everyone! Missy
I know a guy with PCD from the Bahamas. He swears that he does much better in a humid climate than in a dry one, so who knows? I prefer dry, but I’m not sure it helped Meghan a whole lot. She didn’t seem any healthier in Arizona than in Minnesota. One interesting thing, her pulmo just told her that she can not be outside when the temp dips below 15 degrees because air that cold causes lung damage. I had not heard that before, but it seems reasonable. Really cold air is tough even on healthy lungs.
Hi Missy,
I don’t have any answers for you, but our situations sound very familiar! I have a daughter who will be 3 next month who is still unofficially diagnosed with PCD. She started getting severe antibiotic resistant ear infections at 6 weeks of age. At 8 months of age her pedi had blood work done to try to figure out why she was sick all the time. WE found out she had allergies. So we had her tested and she turned up allergic to eggs, milk, peanuts, tree nuts, dust, dog, cat and mold. We did what we could with removing her allergens and starting allergy meds but she continued to be sick. AT 14 months she had ear tubes after 50% hearing loss. Once she had the tubes her ears were fine, but her sinsues were not. At 18 months she had her adenoids removed and a CT scan showing bone errosion in her sinuses due to the infections. She was tested for CF, diabetes, immune difficiency, reflux and I’m sure a few other things as well. She is on constant antibiotics and when she’s not, she’s very sick.
Her previous ENT was asked 3 times to do a sinus biopsy while he was doing surgery, but he refused to do it stating it was too difficult and she was to small. I just don’t think he knew what he was doing and didn’t want to admit it. We no longer see him!
We finally were referred to a pulmo who has been helping me, but she has been too sick to have the nasal scrap done. We have to wait 2 more months after being on rotating antibiotics and hopefully infection free to have the test repeated. If not, I think I’m goin to ask for the biopsy to be done. I have also realized that she has only had 2 CT scans of her sinuses only, they have never done one of her lungs or organs to see if she has SI.
It is great to hear that your daughter has only had sinus infections, because I have been told by many ENT’s that they don’t think Tristen has PCD because she doesn’t have lung issues!?! It has been a long and frustrating almost 3 years! And I hope to finally get an answer soon
If you want to email me: daniellemina@yahoo.com
Danielle
Missy,
Another thing you might try are sinus washes. My son (8yrs old) does them
every night and they have helped immensely with his sinus infections. It
clears all of the gunk out of there providing less opportunity for infection
to develop. My son has had few lung problems (knock on wood) but mostly
sinus and ear issues. We have him using the vest now and with the sinus
washes, he has been doing very well.
Rita Mercier
Chief Financial Officer
Tampa, FL VAMC
813-978-5818
-----Original Message-----
From: momto4girls [mailto:kartagener-cpt7658@lists.careplace.com]
Sent: Saturday, February 02, 2008 1:08 PM
To: Mercier, Rita L.
Subject: Re: [kartagener] 2yr. old with PCD- questions
Missy,
I moved to Florida from Washington, DC to get my son out of the colder
climate. I had noticed that he had more problems in the winter than at
other times of the year and figured if I could eliminate the winterish
weather all year, he would be better off. So far it has worked. The only
times he has been sick since we moved here 1 1/2 yrs ago are when we’ve
gone back north or when someone there has come down here and brought
something with them. I have seen a definite improvement.
Rita Mercier
-----Original Message-----
From: momto4girls [mailto:kartagener-cpt7658@lists.careplace.com]
Sent: Saturday, February 02, 2008 3:41 PM
To: Mercier, Rita L.
Subject: Re: [kartagener] 2yr. old with PCD- questions