Please help me assess my child symptomatically if he has pcd

[GowriSivakumar]

Dear parents,

After having battled for 5 years with my son's condition, iam here to see if I I will be able to find out some information about the condition that my son has. He is born with an unbalanced amount of genetic material between t4 and t6. The manifestations are a 3 mm ASD with pulmonary hypertension since birth ( cause unknown and yet to rule out primary or secondary to his adenoids ) , congenital glaucoma, pedal edema, left undescended testicles with global development delay. He is now 5 years old. He has been having recurrent cheat infections with intermittent wheezes and high grade fever since he was 2 or 2.5years old( this is what I remember) . He gets hospitalized whenever his chest gets infected. Since we stay in Bangalore, India majority of his conditions are attributed to the environment. But one thing that kept me worrying was his persistent nasal discharge. I would say he has a transparent, foamy nasal discharge , predominantly from his left nostrils, ( which would get thick and sticky as the infections progress) most of the times. There were times when he was completely dry , but very few days in his 5 years of life. Now that he has developed grade 4 tonsils and grade 3 adenoids accompanied by sleep apnea. My cardiologist suspects that his pulmonary hypertension may be secondary to his sleep apnoea. When we consulted an ENT and was enquiring for his surgery, the ENT mentioned the term "PCD" and this needs to be ruled out before any surgery can be done. My son also has GERD and some say that acid reflux can also contribute to his nasal discharge and wheeze. Kindly help me in assessing if my son has this condition. Here in India , I don't think we have a support group or any good diagnostic centre for this. Please help and this is urgent.

[fionac66]

Hi

I am sorry to hear about your son's issues. Have you seen our website and in particular the video explaining what pcd is and how it gets diagnosed here in the U.K.?pcdsupport.org.uk/what-is-pcd/

I am out of office today but will respond more fully tomorrow.

Best wishes

Fiona

[GowriSivakumar in reply to fionac66]

Thanks for your reply. Awaiting to hear more from you. Yes I have gone through the video and I just want to hear from all of you about the same.

[GowriSivakumar in reply to fionac66]

Is it possible to do adenotonsilectomy with a PCD? Will removing Adenoids and tonsils reduce his nasal discharge? Also what are the tests I can consider for assessing his lungs health? Please advise.

[shannielars]

Yes. I had mine out when I was 10 months old, and my sister had hers out at the same time---she was 5 years old. We both have PCD with situs inversus. We had no problems with the surgery.

[shannielars]

Most of us have got sinus and lung problems from birth, and many also have ear problems, as well. GERD can be associated with it, too. Are your son's internal organs all in the proper places, or are any others abnormal besides his heart? About half of us have normal organ placement, about half have the reversed organs (all of them) and about 6% have heterotaxy, which is where one or more organs are out of normal position or have anomalies (like polysplenia.) There is nothing about having PCD that would prevent your son from having T & A surgery, though. The only consideration would be whether or not his heart abnormalities would be a problem for the surgeon or anesthesiologist, I think. My lung function is 24%, and they did surgery on me (general anesthesia) for a pilonidal cyst, and I was fine. I was also in my mid-50's, which made them not too happy to be doing surgery on me, but I had no problems with it. I think your son might benefit from the surgery, not only in terms of his sleep apnea, but also strain on his heart (pulmonary hypertension----I have that, too.)

[GowriSivakumar]

Thanks a bunch for your reply. It gives me hope. I haven't yet screened him for any organ reversal and I believe he may not have anything of that kind as none of his reports had mentioned about ot. Do we have any specific screening test for this to find out for he has any organ disposition? Please let me know.

[fionac66 in reply to GowriSivakumar]

Hi .. it is normally quite easy to spot on an x-ray

[fionac66]

Hi... another thing you can try with nasal issues is nasal rinsing .... youtube.com/watch?v=aZgueuv...(Not working as expected?)