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imotile cilia syndrome or pcd

Raina
0 Recommendations

My 4yr old has this disease. He was born with no cilia. Is there anyone else out there like him. Please let me know. I feel like we are all alone.

Explore topics in this discussion:

Asthma Pneumonia Heart disease Congenital heart disease Chronic bronchitis Dextrocardia Bronchitis Kartagener syndrome Cystic fibrosis

21 replies

IVAN

Hello, I would like to know how your son is doing. I have a 10 year old son with PCP (primary ciliary diskenesia, situs inversus, chronic ear and lung infections, dextrocardia. It is called Kartagener's syndrome. Some of these children have complex congenital heart disease that includes single ventricle, pulmonary atresia, LSD, AVD, transposition of great arteries. Your are not alone, we are here. I havent been able to find anyone with this rare disease especially with the conditions associated with it. It took me years of research to finally get all of his symtoms together and all of his doctors agreed on my final diagnosis. His first sign was right after birth, he would stop breathing due to nasal congestion. There is not enough studies about PCD but is being treated as cystic fibrosis as far as the lung infections go. His heart problem is a rare incidence of PCD. He's had several surgeries and will need more. I have been able to collect much information about this disease. I would love to hear from you guys, and I would be glad to help you find answers. Hope to hear back from you soon.

Raina

Hi. My son is in hospt now. We have bben there for 2 weeks. He is 4 1/2 yrs old. My reg email is rruelle@littlesmiles.org. Please email me there so we can talk. I'm sorry your son is going through this. Yes I have been fighting for his whole life and it is hard to get anyone to listen. Florida has never herd of this. And the if they have they only herd it in passing.

catdani

My son has PCD. For the past ten years he has been treated as if he has severe asthma. He continues to get sinus infections and is on his 5th set of ear tubes.
He gets pneumonia repeatedly. Finally after this last bit of pneumonia they decided to test him for PCD.
His ENT and pulmonolgist are convinced this is what it is. We will be sent to the Childrens Hospital in St. Louis so they can help us work with our insurance to get a vest for his lungs. It is a frustrating disease since there isn't a cure . I don't know much about our direction yet .
Catrina
catdani@mchsi.com

IVAN

Hi Raina, I'm sorry to hear your son is in the hospital I hope he gets well very soon. Do they know how to treat it? There are many things you can do do prevent reapeated infections which may damage his lungs. I can imagine what you are going through, but it is important to aggressively treat infections at the first sign, which will be coughing a little more than usual. Thank you so much for your reply and let me know how things are going.

IVAN

Hello Catdani, I'm sorry to hear about your years of frustration. Yes, he needs the vest as soon as possible, chest physiotherapy is very hard to do if you have more children and if you are working. We just got his vest last year and insurance and the vest company will work with you. Since we all know about PCD more then most doctors do, I've learned to keep asking for things I believe he needs. His last pulmonologyst didn't want to give me the vest years ago when I asked him because he thought it was too expensive (I found out this later and was furious). Doctors will call it atypical asthma and will treat it like it for years. Kids need to be taken off medications that really are not helping much. It is not asthma at all, an inhaler might work in an exacerbation of bronchitis but not in the long run. I'm glad they will finally get a diagnosis. If in fact he does have PCD the best thing you can do to help him is doing chest therapy or the vest. Have a throat culture and pulmonary lung function tests at least every 3 months to check for other bacterial infections. Please let me know if he is diagnosed and what are they doing next. As you know, there is no cure and so little known about this disease that it is very important you act as your son's advocate against all odds. We live in a very small town in the Oklahoma Panhandle (Guymon) and have to drive 5-6 hours, 1-2 times per month (when he is doing well) to Children's Hospital in Oklahoma City. Sometimes it's only a follow up and a 20 minute visit but to me it doesn't matter as long as he has a relativey good quality of life for as long as possible. Thank you for your reply and hang in there there is so much you can do. I was glad to hear there was other people like him, but sad at the same time to know other families are going thourgh this.

Adwyer

Hi Ivan and Raina,
I have been thinking about PCD and looking at Pubmed. It appears that a large majority of sufferers have a missing dynien protien as the root of the problem to attempt to vibrate up the mucus from the lungs. My idea to attempt to help this may sound kinda dumb but, can we simply hang the kids upside down for long periods of time with an evaporator as a form of therapy? I am thinking of one of these gravity boot contraptions you see on infomercials. Bear with me, the positioning of the lungs versus the bronchi looks similar to an inverted tree. The goal of cilia is to push the mucus up to the "trunk" of the tree(the trachea) and out. If we help the cilia out by using gravity to effect the mucus and help it slide in the right direction (out) this would be a good thing. Unfortunately, this would not work on cystic fibrosis patients because of very dry sticky mucus. I am assuming that the mucus is normal in PCD. I know it sounds wierd but, I hope this is helpful.
Thanks,
Aleck

IVAN

Hi Aleck,
Yes, it sounds like a great idea, I think they will still need the vibrating motion of the cilia. Postural drainage acts about the same, it is intended to to drain all the branches of the tree, it also takes a long time to do and needs to be done several times a day especially when sicker then usual. The mucus should be normal in PCD, but almost all the time is thick and sticky due to chronic bronchitis. I think upside down position, humidifier, and vibration (chest therapy or vest) will work great, unfortunately with my son's heart condition and his blood flowing down to rest of body via gravity we can only rely on chest therapy or vest. I think about doing the same with newborns to help them clear up their airway faster. Maybe there will be more research done on this. Thank you, I will ask his doctors if tilting him down more would be safe, I think it will, anything at this point will help. Thanks again.

Aracely

IVAN

Hi,
I think if there would be a way of preventing aspiration pneumonia this will work.

Adwyer

I was thinking somemore about this last night. If we raised the feet of the bed so that mucus is flowing the correct direction all night during sleep I think would also be helpful. Is there some additive to an evaporator we can add to loosen the mucus during the night? I don't know if that is already being done but my mother always put some form of eucalyptus in the evaporator to loosen congestion. These things might be helpful when they are older.
thanks,
Aleck

catdani

Adwyer
We actually use an iversion (sp?) table when our sons lungs get really bad. We do the hand percussion every night. Sometimes we use the cup and sometimes we just do it with our hand. Moving them upside down isn't enough to get it to move but it does help with the hand percussion. When they are hospitalized they do move the bed up and down as they do the percussion. I have a friend that is a respiratory therapist recommend buying a stethoscope to keep at home so I can hear where the congestion is in the lungs so I can concentrate on that area. I know you can get them online.

catdani

Our hope is to have the vest by this winter! I would like to have it for flu season! Anything new you find out from your drs would be great to hear as well.
With these rare disease we have to be as informed as the drs! Sometimes we gather more info then them just from networking! ( I am sure they hate it!)

IVAN

Catdini,
I'm so glad you will be getting the vest. I told Ivan's pulmonologyst flat out that I wasn't doing the chest physiotherapy six times a day there was not way! maybe twice if lucky. I work about 50 hrs/week and have two other children. He said they were supposed to help us with quality of life at home too, so in two weeks after that office visit we got the vest and they did all the arrangements.
You will love it, it really works, Ivan just took a round of inhaled antibiotics (it is used for CF and pamphlet doesn't say anything about PCD but this is all they have) If only I've had known then what I know now I think it would have made it easier on us. (docs didn't expect him to get this bacterial infection so soon). I was told to do percussion two to three times a day every day and up to six times when sick. I wish I could've done it exactly as I was told, I do my best and I still believe it isnt enough.
I'm sorry sometimes I feel so frustrated that whatever we do its never enough, or at least that's how I feel.
Anyways, whatever you use, keep their lungs as clear and away from infection as possible to prevent permanent lung damage. Thank you all.
Blessings

IVAN

You are right, that will loosen the mucus and most likely make them cough it up. I remember using an evaporator when he was an infant and docs didn't know for sure what was going on, he would still get plugged and stopped breathing very often. I'm sure it will help now that he is older and able to cough. Thank you so much for taking the time to help us.

Adwyer

One more thought that might be helpful. In our state EMT's with a little additional training are able to put in endotracheal tubes to establish airways in patients. My idea is use this concept on a PCD patient. Basically, get a lidocaine spray from doctor and spray throat to compensate for a gag reflex. Next you would put tube down throat beyond vocal chords using a laryngoscope (just to move tongue) to a predetermined depth. When depth is reached have them take a deep breath and turn on a surgical vacuum pump and slowly twist the tube and withdrawing it sucking mucus up on the way out. This therapy would accomplish the same as coughing up mucus for hours.
So my idea is for one of the parents to become an EMT or get whatever certification is necessary for your state to be able to put in an ET tube and accomplish this "vacuum therapy" whenever the patient is in coughing distress. This could then be done daily if necessary but I think the quality of life would improve.

Thanks,
Aleck

IVAN

Placing an ET tube is painful and traumatic, even with lidocaine, I believe it causes trauma to the airways and vocal cords if done repeatedly, there can be a vagal response causing bradycardia. Also the procedure might irritate the mucosa therefore causing rebound mucus production. The risk of infection is high, and you would need to hyperventilate before inserting the ET tube. Intubating is not easy even for a trained professional. In an emergency they have no choice. I know home suction is done when a tracheostomy is in place. I think if someone is sick enough as to require suctioning, he/she needs to be in the hospital.
I believe one day we will be able to do this safely, and many times I wish I could be able to just stick a tube down his throat and get all that stuff out! but I know that even suctioning with a bulb syringe a little too far in can cause the heart rate to go down.
It will take someone like you with these new ideas and adapting it to our needs so it can be safely used routinely without having to use a laryngoscope. The lidocaine sounds like a great idea, it's the ET tube and suction tubing that bothers me. If we could thin out the secretions enough before the suction we could use a much smaller catheter therefore reducing the risk of injury.
I love the idea of having a small portable home suction device and I have faith this will happen soon. I'm sure I won't be able to get this idea out of my head, there has to be a way. Thank you.

Adwyer

Unfortunately, using a larygnoscope or something like it is the only way to move the tongue out of the way to see and miss the vocal cords. So this might not be a viable idea but, lets keep thinking about it anyway. The patient might be able to learn how to hold their tongue in such a manner as to allow visualization.
So your idea is to insert a smaller tube and thin out the mucus and make it "runnier" to flow better. First, anything we add to make the mucus flow needs to be carried out the mouth not back into the lungs. So the additive needs to be added when the patient is upside down. This will allow the wash to go the correct direction. CF patients have been using sterile saline as a breathing treatment for several years. My thought is to use sterile saline as the additive to wash out the trachea. Concerning, infection your idea is better because any contamination would be washed out. Further, an antibiotic could be added to the saline just in case.
You are correct irritation does need to be monitored and the patient can tell you when they are good and bad. It will not be the ideal therapy but it could be another tool in the toolbox.
Aleck

IVAN

My idea was to first use a kind of mucolytic (like a syrup) to thin the mucus out and then suctioning it.

Adwyer

That might work too. I think we would have to make sure it wouldn't accumulate in lungs and I don't know how you could insure that you suctioned it all up. What kind of mucolytic were you thinking about?

IVAN

WELL, I'M THINKING ABOUT A SYSTEMIC SHORT ACTING MUCOLYTIC OR EXPECTORANT. I AGREE I WOULDN'T INSTILL ANYTHING DOWN AN ET TUBE. SOMETHING THAT DOESN'T HAVE TO BE LONG TERM. WELL, I REALLY DON'T KNOW FOR SURE.

Sande

Hello,
Today is my first day on this site. I don't know what its called what my son has, but he was born like this in 1989. He is now 20, and has been sick all his life. By the time he was a freshman in High School he finally had an biopsy that diagnosed him with no cilia, he had 3 hairs that were dead. He has never not had pneumonia that I can remember. He works full time and goes to school, he feels terrible all the time. He finally moved back home with my ex husband when he was 16 because he was tired of me having him at the doctors all the time and being in the hospital. He would always say they can't do anything for me, and I only feel better for a week and then I am feeling horrible again!! I have spent 1000.00's of dollars on all the things they have made me buy for him through the years, even with insurance.
He is trying to get medical, he has no insurance and gets very sick many times a year. It breaks my heart to see him sick every day of his life. He has no idea what it is to feel good. He was tested 2 or 3 times for Cystic Fibrosis!! You only have to be tested once to find out you don't have it! I guess every doctor that see's him, just see's it all as the signs of it. I pray daily for a miracle for him and that he would feel great on day!! He can't go into the sevice because he would never be able to pass any physicals, even though he is 6'3 and a very strong young man! He says playing basket as much as he can, helps him to cough up the mucus in his lungs! He coughs up mucus all day long!!!

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