For Rare Disease Day 2018 we asked the PCD (Primary Ciliary Dyskinesia) community, “What are your things NOT to say to a person with PCD?” Here are their responses. Some closely related responses have not been included in this list.

- My ENT said, “We need to get your hyper-secretions in your sinuses thinned out, so your cilia can do their job and move the secretions out of your sinuses.”

- My Respiratory Therapist said, “Breath in through your nose, so that your cilia can filter out germs and bacteria as well as moisten the air going into your lungs. Moist air helps the lung cilia work optimally too.”

- “Blow your nose.”, my daughter hates that.

- The gym teacher says, "Come on you can do better than that". I say let me tape a straw to your mouth and nose and you run. 🤣

- "You sound like you have a bad cold" which is similar to "Wow what a horrible cough". And it's always the same people over and over again which is when I get annoyed, one time is not harmless. I don't look sick. I don't expect everyone to know my background, but when you've said it 8 times in 3 days wake up.

- “If you're sick, you should stay home!", but then we’d never go out. 🙄

- “Well, at least it’s not CF.” (True, but minimizing the real long term medical effects and feelings of PCD is really obnoxious. I am happy my son doesn’t have CF, but it’s no cake walk having a child with PCD).

- When a provider says, “PCD? What’s that?”

- “I bet my doctor can cure you.”

- “Just take some Honey.”

- “Eat this magical bush or drink this tea.” Lol

- “Do you smoke?”

- So many variations of; “You should lay off the smoking, that’s what you get for smoking, etc”

- “It’s not like you had surgery.”

- From doctors " What do you mean that medicine doesn't work how do you know?"

- My pharmacist lectured me that too much ciprodex would cause the cilia to not work....after I told her they didn't work right to begin with.

- “Just use XYZ essential oil/herb/cleanse and you will be as good as new!!”

- “But you look so healthy!”

- From the school regarding my kids, “Well, we just need to make sure they are here more often and not just staying home with a sniffle.”

- “Can you just stop blowing your nose?!”

- “You go to the doctor too much!”

- "Do you want a cough drop?”

- “Breathe in through your nose and out through your mouth" (the last is said all the time during exercise. I'm like how the heck do I do that when the exercise makes my nose run??)

- Direct quote from my (former) chiropractor... “You know, if you have a miscarriage, it’s God’s way of cleansing the body and it could cure your PCD.”

- “You should really see a doctor about that cough.”

- “I have asthma too...” Um I wish it was just​ asthma..

- I get, “Are you sure it’s not asthma?”

- “And I see here he must have a little asthma?” 🙄

- “I’m sure she’ll grow out of it. My daughter was sick a lot when she was that age and she’s fine now.”

- “Do you think she’ll grow out of it?” Me, “No she’ll never grow out of it.” Them, “but maybe she will!” 😡

- “When he gets better...”

- When I was in school I played soccer and my team had to run miles but my coach had me run laps at my own pace while my team took their route around the sports complex for safety reasons and to be near my inhaler. Members on my team would always say "You're not sick! You're just too lazy to run!"

- Lately the one that gets me is "When are you having kids?" Since most don't realize the miscarriages and complications related to PCD and pregnancies.

- “You're not getting younger, you need to start your family!". At the time, I had a fridge full of hormones that I was injecting into my stomach every day, among other things (blood draws every other day, more hormones in the butt, lots of ultrasounds). Some people who get pregnant easily just don't get it.

- "Try a gluten free diet, it will change his life"

- My husband's old boss could not understand how sick I was and would always tell him "It's just allergies!”

- From doctors, “Are you sure you just don’t have really bad asthma? Ummmm.  Let’s see...  if my ears and sinuses are also my lungs, then maybe?

- We have one child with PCD. Someone told me we should have had more, in case, you know, something happens to her.  😒

- My personal pet peeve: "You should cut out dairy. My kids got ear infections too until they cut out dairy."

- “Oh it can’t hurt to try xyz...” Well it certainly has not changed things at all. I cut out all dairy. No change.

- “Just go to (insert holistic Dr here) because your sons on too many antibiotics and needs to get off of them and his inhaler.”

- Every new doctor, “Let's run xyz test/scan/blooddraw just in case." Let's not, we've ran them all 3 times and he's only 5. It's a diagnosis even if you have only ever heard of it.

- People tell me all the time that she gets sick because, she needs germs. “It won’t kill her.”🤬

- “Let them play in the dirt!” is one of my personal favorites.

- “Are you contagious!”

- I get.... “Oh he’s sick again? Wasn’t he just feeling bad. I’m sure as time passes and he “grows “ things will be better!!”

- "Yeah I have that sinus stuff too. It’s bad. Just take a hot shower. That will help!” 😡😡 ugh

- "It could be so much worse!" I am obviously thankful it's not worse, but coming from someone who has no clue what she and we go through it's totally annoying.

- "How is your daughter doing...is she better?  Yes she does have days that she feels pretty good, but is she ever "better"....nope...not unless they've heard of a cure that I haven't...🙄

- I had a nurse who didn't read her file ask, "Why are you calling us for just a fever and stuffy nose?"

- “So did you give this to him?”

- “So now that you know genetics diseases run in your family you should not have any More kids!” 😤

- “You should put her name on the transplant list now!  Then when you need it, your name will be in there, at the top.”  🤦‍♀️ That’s not how the system works....nor is a transplant an easy cure-all, nor does everyone qualify for a transplant, etc....

- “You need to be vegan!”

- “Your body is too acidic; that’s why you are sick all of the time!  And have rheumatoid arthritis as well.”

- “If you just gave up all animal products, you would be so much better off!

- “You probably wouldn’t be so sick if your mom had breast fed you”

- “At least he doesn’t have Cancer!” Really. 😑

A PCD family member sent us this statement, and we think it is a fitting way to end our posting for Rare Disease Day 2018. “I think all of these things reinforce how necessary and vital the PCD community is. People DO NOT understand what it's like to live this life. So the importance of a community you can lean on through the hard days and celebrate the victories with can't be understate.”

Happy Rare Disease Day 2018! Are you wearing your blue jeans today? “Hope it’s in my genes!
 

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      Cilia are thought to play an important role in organ placement during the embryonic stage of development in human beings. Nodal cilia are responsible for the establishment of the lateral positioning of organs as the embryo develops. These nodal cilia are very similar to motile cilia found in the respiratory tract of the body. Without proper movement of the nodal cilia, organ placement becomes random throughout the thoracic and the abdominal cavities of the body.

      There are three main descriptive terms used to describe the position of both thoracic and abdominal organs in the human body. They are situs solitus, situs inversus, and situs ambiguous. These terms can be further broken down into several others to further explain exact placements of certain organs or combinations of organs. Today we will focus on these three terms; situs solitus, situs inversus, and situs ambiguous.

      According to NORD (National Organization for Rare Disorders) approximately fifty percent of primary ciliary dyskinesia (PCD) patients have some form of organ displacement in the human body. The other approximately fifty percent of PCD patients without organ displacement, as well as the rest of the human population without organ displacement, fall into the situs solitus category. A 2018 study published by the U.S. National Library of Medicine cites that out of the fifty percent of people with PCD who have organ displacement, twelve percent of those patients have situs ambiguous, leaving the remaining thirty-eight percent in the situs inversus category. It’s important to note here that while fifty percent of people with PCD have some sort of organ displacement, only twenty-five percent of people with organ displacement actually have PCD as well. So what does situs solitus, situs inversus, and situs ambiguous actually mean in terms of organ placement and or displacement?

      Let’s begin with situs solitus. situs solitus is the normal position of the thoracic and abdominal organs. This means the heart is on the left side of the body along with the aorta, bilobed lung, single spleen, stomach, and the systemic atrium of the heart is on the left side of the heart along with the cardiac apex. On the right side of the body is the inferior vena cava, trilobed lung, liver, gall bladder, and the pulmonary atrium is located on the right side of the heart.

      Meanwhile in situs inversus the thoracic and abdominal organs are reversed or in complete mirrored image from their normal positions; situs solitus. In situs inversus there is a complete transposition of all abdominal organs and the heart is on the right side; known as dextrocardia. Dextrocardia literally means right-hearted. Situs inversus rarely involves other heart health issues as well as any other medical issue; with the rare exception of PCD. Sometimes situs inversus is called situs inversus totalis but they both technically mean the same thing. However old school medicine used to term stius inversus totals as a complete flip left to right of the body axis, and situs inversus was used to differentiate only a complete flip or either the abdominal cavity or the thoracic cavity. Depending on which doctor you ask today this mistake is commonly repeated. Situs inversus is supposed to be a complete mirror image flip left to right in both the thoracic and abdominal cavities, not just one or the other.

      Then we come to the most confusing; situs ambiguous, also known as heterotaxy syndrome . Situs ambiguous is an organ displacement abnormality that involves both components of situs solitus and situs inversus inside the same patient. These patients exhibit abnormal organ arrangement across the left-right axis of the body. They have neither the normal, usual, reversed, or mirrored placement arrangements. Levacardia is a descriptive term used to describe organs displacement where the heart remains on the left side of the body (normal position) but other organs are reversed or mirrored including in the abdominal cavity. Levacardia usually also always involves other structural defects of the heart which can be life threatening at birth and may require immediate medical intervention. Situs ambiguous patients tend to have severe cardiac abnormalities, spleen abnormalities (asplenia or polysplenia), intestinal rotation, and or malabsorption of the abdominal organs. The mortality rate is high in situs ambiguous mainly due to the complexities of the malformations, in particular the severe cardiac malformations.

      When a person also has primary ciliary dyskinesia and some form of organ displacement they are said to have PCD with situs inversus, or PCD with situs ambiguous. In days gone by PCD patients who also had situs inversus were said to have Kartagener’s syndrome. Kartagener’s is an outdated term that describes only one subset of PCD. This outdated terminology still persists in today’s society because the name usage has been in medical journals for over a century despite the forward movement of research that has advanced the medical field’s understanding of cilia. PCD patients with any other form of organ displacement other than a complete flip or mirror image actually have PCD with situs ambiguous, including those with multiple spleens and or those with a missing spleen. For more information on the terms used to describe organ displacement in correlation to PCD please visit the PCD Foundation’s article, "What’s in a Name? A Brief History of PCD Terminology".

      Researchers are not sure to what extent that nodal cilia actually play in the embryological stage of human development and why certain patients with ciliary dyskinesia have organ displacement and some do not. Hopefully as our technological understanding of the cilia and the diagnostic tools used to examine cilia advance this and other answers will reveal themselves.

      So which situs are you? Only your physician is qualified to clarify that answer for you. There are many imagining options out there to help your physician determine your organ placement; MRIs, Ct-scans, Ultrasounds, and X-rays. Unfortunately the older population and even some of the younger population today may be walking around with organ displacement and not even know it. Their physicians may not even be aware of it either. How can this be you ask? Back in the day when organ displacement was seen on an X-ray, it was often dismissed as the X-ray was backwards and no further investigation was initiated. That is a less common occurrence in modern medicine today. Unusual findings are almost always investigated by a patient’s care team. However it’s possible some organ displacements are still missed to this day, especially if the patient has no other health issues that warrant x-rays or other health interventions or investigations.

Be sure to visit us next week for another Topic Thursday!

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Or; for more information on how you can donate, please visit our "Donation" page to check out our "Do & Don't policies at; http://pcdsmiles.com/support-pcdsmiles/donations2

Or; to sponsor a PCD Smiles Cheer-box today!
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Thank you for your consideration!

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