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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.
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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.
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I don't know if you went to the Respiratory Rally
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I hope you included my ENT, that was in the 90's...too.. ----- Original Message -----
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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.
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Actually a test without SI, is important..
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Hi Missy,
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Me too, Lake Washington...anyway hope you
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I am only using oxygen at night. I am not supposed to go over 6000
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I appear to need my oxygen more on exertion
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I am too short of breath, my peak flow wants to
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