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PCD

(Primary Ciliary Dyskinesia)

This webpage is about a rare genetic condition called PCD. I have Kartagener’s Syndrome, which is a form of PCD.

Recently, on a forum on Facebook, I read postings by others who have PCD. This, combined with watching my girlfriends’ courageous struggle with her chronic health condition (not PCD), made me more aware of how important it is for people with such conditions to share their experiences. I’m writing and posting this page to help inform people about this condition and to help spread awareness, as well as provide possible suggestions as to coping strategies for people who have PCD.

I was diagnosed with this condition in adolescence following years of unhelpful doctor visits and a great deal of anguish for my parents. However, it was not until my early 20s that the significance of having this condition even began to become apparent. As a singer, I discovered that understanding and finding a way to manage this condition and its range of symptoms was essential to being able to perform. I’ve tried a number of approaches with varying degrees of success. Considering that our bodies change as we age, and that uncontrollable environmental factors beyond our control affect how we feel, it’s not always easy to form much more than a working hypothesis. I hope some of the suggestions below are helpful. To those reading this that do not have PCD, I hope this page is informative and helpful towards understanding and relating to those who do.

  • What is PCD?
  • How does having PCD affect someone?
  • Is PCD contagious?
  • What causes PCD?
  • Suggestions for coping with PCD
  • Other PCD links

     

     

    What is PCD?

    PCD, the abbreviation for Primary Ciliary Dyskinesia is a medical condition in which the cilia in the body don’t function normally. The cilia are tiny hair-like structures that line the nasal passages, ear canals, the trachea. They function in moving mucous out of the bronchial tubes and ear canals, and forward through the sinuses, where it can be expelled. Mucous is a naturally occurring secretion which aids the body in fighting infection. However, the inability to expel mucous renders someone with PCD more susceptible to infections than a person with normally functioning cilia. PCD is also called Immotile Ciliary Syndrome. Although this name indicates an ‘immotility’ of the cilia, the cilia typically do move, only inefficiently or not in proper coordination with each other. Kartagener’s Syndrome is a variation of PCD which presents as chronic sinusitis, chronic bronchiectasis, and situs inversus. PCD is a rare disorder (approx. 1 in 30,000) and not yet completely understood.

    PCD in Wikipedia

    Rare Diseases.org

    Cilia in Wikipedia

    PCD Foundation

    Microscopy-UK article

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    How does having PCD affect someone?

    PCD presents in different ways in different people, and at varying levels of severity. It likely has social effects as well. Common physical presentations of PCD would be cold-like symptoms- nasal congestion, stuffiness, etc.- where there is no cold present, chronic sinusitis and bronchiectasis, frequent cough, frequent lung, ear and sinus infections and pneumonia, and asthma/allergy like symptoms, such as shortness of breath and increased sensitivity to air-borne pollutants such as cigarette smoke, dust and car exhaust. Furthermore, because improperly functioning cilia render the body unable to rid itself of mucous, any foods, beverages or environmental conditions which may stimulate mucous production can be problematic for someone with PCD. These include milk and dairy products (including cheese, butter and ice cream), eggs, beer and other alcoholic beverages, coffee and fried foods. Thus someone with PCD may have numerous dietary restrictions.

    PCD also has social implications which may be more significant than one would expect. Evolutionary instincts of self-preservation have conditioned people to avoid contact with individuals who appear sick or cough, as that may indicate a dangerous contagious illness such as TB. People with PCD therefore face an uphill struggle socially as the visible symptoms of their condition cause others to instinctively (and subconsciously) avoid contact with them. Persons with PCD are also at a disadvantage in the job market, as their symptoms could easily cause employers and prospective employers to be haunted by ghoulish visions of Typhoid Mary. This is a factor not just in the food and service professions, but really in any occupation involving any degree of human contact. Other prospective employers and institutions- retail, corporate, academia, government, etc.- may fear the negative reactions of customers, consumers, or the public in general, to someone with PCD. Thus, as a result of the physical and social challenges presented by PCD, individuals with the disorder may well have fewer opportunities (for growth and development).

    Health Watch Center article

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    Is PCD contagious?

    No. PCD is a genetic condition and therefore not communicable. Like anyone, a person with PCD who has an infection may or may not be contagious. While a person with PCD may be more susceptible to infections, they are also more likely to be under a doctors regular care and on antibiotics which would render any infection non-communicable.

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    What causes PCD?

    PCD appears to be caused by a recessive genetic defect that results in the absence or malfunction of a protein called dynein normally found in parts of the cilia.

    More on Dynein

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    Suggestions

    As I mentioned in the introduction, it is difficult to form more than a working hypothesis on how to cope with PCD. In this section I’ll list some lifestyle adjustments that seem helpful. Whether or not they work- and how well- may vary from person to person. I hope these suggestions are helpful. I think they are at least worth trying:

      Diet

        Foods to eliminate altogether if possible:

      • All dairy products- milk, butter, cheese, ice cream, yoghurt
      • Beer
      • Foods containing hydrogenated or partially hydrogenated oil

        Foods to minimize:

      • Fried foods
      • Wine (When it comes to alcohol, I find small amounts of hard liquor to be the least problematic)
      • Chocolate (Since it’s physically impossible to eliminate completely, I try my best to minimize it)
      • Coffee (coffee might have benefits too- most notably by opening airways. Whether that temporary relief is enough to offset the couple days of sinus congestion is debatable.)
      • eggs
      • Junk foods and processed foods
      • Potatoes (I find starchier white or baking potatoes worse than the less starchy red or purple)

        Foods to favor:

      • Foods with high water content- white rice, light breads, salads, cooked spinach
      • Green tea- I’ve become a green tea addict
      • Water

        Beef

        When I’m fighting an infection I find beef helpful. I only buy natural beef- so it’s not the antibiotics fed to the cows. Agreed, it should be eaten in moderation as there are other serious concerns. But when dealing with an infection, it does seem to help a lot.

      Lifestyle:

        Get a reasonable amount of exercise- walking and swimming if that is an option Some yoga poses seem helpful- I had some success for a while with inverted poses- headstands and handstands helped clear things out. Eventually I developed neck strain though…
        Avoid moldy and dusty places
        Don’t smoke, and avoid second hand smoke
        Acupuncture (?) (I haven’t tried it yet, but it makes sense that it could be helpful)
        Singing- I’m bias towards this one being a singer, but it does help clear things out by massaging the sinuses and pharynx.

      Conventional Medicine:

        I’ve had varying experiences with conventional doctors- ranging from those who recommend managing the symptoms by some of the above methods in conjunction with some medicines and devices, to those who recommend a lifelong regimen of antibiotics (probably not a good idea unless absolutely necessary). I’ve come across a good number of doctors that are completely unfamiliar with PCD or Kartageners or their effects. Given the rarity of the condition, the state of the healthcare industry (at least in America), and the variations in the symptoms from person to person, those of us with PCD are pretty much on our own and would probably do well to share experiences and ideas for managing the condition and its symptoms with one another.

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    Other resources

    Genetic and Rare Diseases Information Center- NIH

    Facebook group for PCD

    PCD Foundation

    UK PCD Family Support Group

    If anyone with PCD has any suggestions or thoughts on this page and would like me to consider posting them, please feel free to email them to me at jon@jonwaterman.com.

    Thanks and best to all,

    Jon

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