Primary Ciliary Dyskinesia
What is Primary Ciliary Dyskinesia?
Primary Ciliary Dyskinesia is a rare autosomal recessive genetic disorder that affects the function of cilia.
| Name | Description |
|---|---|
| Bronchiectasis | A chronic loose, hacking, and productive cough. |
| Situs inversus | Approximately half of PCD patients have reversed internal organs. |
| Heterotaxy | Heterotaxy is one or more organs out of place or abnormal in some way (three lobes on both lungs or just the spleen on the opposite side, for example). |
| Gastroesophageal reflux disease (GERD) | GERD is very frequently associated with PCD. |
| Chronic sinus and/or ear infections | Sinusitis, otitis media, or “glue-ear” |
Last updated 20 Oct 2008, 10:56 PM
20 Oct 2008, 10:56 PM
Hi, Sylvie--- Same here, trying to stay as well as possible. I walk the dog every day, do the laundry and grocery shopping (and carrying it all in, too, as my BF can't carry any weight, whereas I can, as long as I go slow and stop to rest if I need to.) I am end-stage, but most people would never guess it, even though they see my oxygen tanks. I try not to let myself even get started with depression, because I know from past experience that it can take me over. I usually go a bit too far in the OTHER direction, though! LOL Just this morning, I was walking the dog and one of our friends was awake who isn't normally, at that time of day. We stopped to say hi while he was getting himself a cup of coffee, and he looked at me and asked me how I could be so HAPPY that early in the morning (it was 9:30, so it wasn't really THAT early!) And I told him it was a decision I make each day, when I get up. I can moan and groan and hate my whole life, or I can choose to look at the good things there still are in my life. I do not pretend the bad things aren't there, but I try not to waste my time thinking about them; I think about the good things instead. For me, it works. And it also means that people tend to still want to spend time with me (something that doesn't happen often to people with end-stage lung disease, as they usually are grumpy and fussy and just no fun to BE with.) So, for me, choosing to look at the bright side is the only way to go. Do you have any family nearby? I wasn't able to have kids, but I have a sister about 8 hours' drive away-----she has PCD, too. My other sister lives in NY, and my brother in Puerto Rico. Those siblings are normal. The move went okay, and it was wonderful to see my brother (he came all the way from PR to move us!) but I'm still getting unpacked!! Had no energy while the weather was hot, but now it's cooling down and I'm feeling a lot more energetic, so I'm FINALLY starting to get somewhere on this place! But it IS much easier to be on the ground floor---I'm extremely happy about that! Laurel
20 Oct 2008, 07:36 PM
HI! I'm 52 and live in the UK, but am still getting around and trying hard to stay well. Your move to a ground floor apt sounds a good one, I hope that went OK. I think if you are unwell it is easy to get depressed. Having friends around helps, I think your fur-child must too!
11 Jul 2008, 02:45 PM
Are there only three members in our community, so far? I can probably get some more folks to come in here from my other groups, if you are interested. I'm 53, female, with PCD/SI. Diagnosed at 21, but they caught the SI at birth. Older sister has it, too. I'm on oxygen 24/7; she's just starting it at night. Both on disability, though. Used to be a respiratory therapist and a massage therapist, before lungs sidelined me. Live in Charleston, SC, where the sea air is nice for the lungs. Spend a fair bit of time on antibiotics and hospitals 'tune-ups', sometimes come home on IV ABX. Became diabetic (insulin dependent) this year because of steroid use for the lungs----wasn't able to wean off the steroids, so now I am on insulin 4-5 times a day. Am finally getting the steroids weaned, so I'm HOPING that the insulin will soon be a thing of the past, if I'm lucky. Live with my boyfriend of 8 years and my little fur-child, a Schnauzer-cross, in a tiny apt. in a complex, but we're moving at the end of the month into a bigger, ground-floor apt. so I won't have to do the stairs any more (they're REALLY hard, with the oxygen, and because I have to do all the hauling of laundry and grocery for the family---boyfriend is too disabled). Am stressed by the move itself, but will be thrilled once it's done! Try to stay as positive as possible (some call me Pollyanna!) because I find I get dreadfully depressed if I don't. I am a much happier and nicer person when I am not depressed! So I am always on the lookout for silver linings, things to be grateful for or happy about or just things to smile about. Laurel
| Title | Description | Date | Link |
|---|---|---|---|
| The PCD Foundation |
An online resource for patients, caregivers and healthcare professionals affected by primary ciliary dyskinesia. |
03/20/2017 | |
| PCD Family Support Group (UK) |
The group was formed in 1991 to:
·Provide support to adults with P.C.D. and parents of children known to have the condition
·Bring P.C.D. to the attention of the medical profession and the public
·Provide an up to date information service
This web site offers information about P.C.D., information about current research into the condition and links to other pages of interest across the Internet.
|
03/20/2017 |
Clinical Trials
CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.
Enrolling is easy.
- Complete the screening form.
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- Answer the permission and data sharing questions.
After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.
Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.
Visit sanfordresearch.org/CoRDS to enroll.
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In my 30's I heard it called PCD and was presented with puffers and strong antibiotcs and encouraged to do...
with Situs Inversus.Chronic Sinusitis.I am taking antibiotics.It seems tobe worst now that I am aging,but I just try to take care of myself.I take life...
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ONLY THREE OF US?
Created by shannielars | Last updated 20 Oct 2008, 10:56 PM
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