Love to hear your experiences - the c... - PCD Family Suppor...

PCD Family Support Group (UK)
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Love to hear your experiences - the cough that won’t go away!

Hayley25
Hayley25
6 Replies

Hi everyone!

We are currently on the wait list cilia testing for my almost 12 month old. She has had a chronic wet cough from 2 months old and been on antibiotics since 3 months old, we are currently in hospital for her 3rd round of IV antibiotics.

She has tested negative for any PCD genes and her only symptom is the chronic wet cough. But what I am curious about...

🌸 her sputum samples are ALWAYS negative but...

🌸 antibiotics always clear up her cough

🌸 within a week of being off antibiotics the cough always comes back. She always has red ears but no discharge and her nose isn’t ridiculously runny.

I guess I’d love to hear from parents who have had children diagnosed with PCD and hear about their symptoms etc?

I don’t know, I’m at a huge loss!!

6 Replies
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LD28

Hi Hayley,

As I am sure you already know, symptoms in young children are chronic wet cough, constant runny nose and often hearing loss. Many PCD babies have some form respiratory distress shortly after birth.

Do you do the sputum samples when she isn’t on antibiotics? If she has already started antibiotics by the time she gives the sputum sample, it is possible nothing will grow. Another thing to consider is whether you’re getting a good enough sample from her and that you make sure you send it off as soon as possible - leaving it lying around for a while can also affect the result.

I am not a PCD parent but have PCD myself and I think it’s worth bearing in mind that PCD can often present itself in different ways and there isn’t necessarily a ‘typical’ PCD case, beyond the general repeated respiratory infection. Most people will have runny nose and constant cough but this can vary to greater and lesser degrees. For me, I had recurrent chest and ear infections, hearing loss (which resulted in hearing aids) and constant runny nose but wasn’t diagnosed until I was 4. Some people however have milder symptoms and aren’t diagnosed until later in life.

It’s interesting that genetic testing hasn’t revealed PCD genes - I would have thought that would be the most conclusive test. Hopefully the cilia testing will give you answers. If she is diagnosed as PCD, it’s worth getting referred to one of the specialist PCD centres (who you’ll probably go to for the cilia testing anyway). In England, these are Southampton, Royal Brompton, Leeds/Bradford and Leicester.

On average it takes 5.6 years, 8 clinicians and 3 misdiagnoses for a rare disease to be diagnosed. If it turns out not to be PCD but you don’t think she’s ‘normal’, don’t give up on repeatedly seeing your GP/paediatrician for further investigations and answers!

All the best,

Lucy

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Hayley25
Hayley25
in reply to LD28

Thanks Lucy, I REALLY appreciate you taking the time to respond.

She’s a real mystery, our respiratory doctors were in this morning (in hospital for IV antibiotics even though her sputum was and always is negative) and once the cilia testing is done they honestly have no idea what to do with her.

All her sputum samples have been done with suction in hospital as she’s too little to actually expel anything.

Thanks for those suggestions too, unfortunately I am in Australia and we have to fly to Melbourne as it’s the only place with the proper microscope, we have a 3 month wait.

Our Respiratory team have told us that gene testing there is still a 30% chance of her having PCD as they haven’t found all the PCD genes yet. However they don’t think she has PCD as she didn’t have any resp distress post birth. She’s just a puzzle!

Can I ask as a person with PCD do you have a wet cough most of the time even if it’s not an infection? There is such limited information here and you’re right, no 2 people seem to be the same with the PCD!!

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LD28
LD28
in reply to Hayley25

Hi Hayley,

There’s an Australian PCD group that are quite a bit younger than ours but are reasonably active. If you haven’t been in touch with them already, send me a direct message with your email address, as I think the chair of the PCD family support group has their contact details (think they’re on FB too). It might be useful to get some suggestions for respiratory doctors from them. Also if you haven’t already, you can get more information about PCD on our website (just google PCD family support group!).

As for your question, yes I’ve always had a wet cough and a runny nose, even in the summer. Im 27 now. For me, the important thing is to watch out for colour changes in sputum and for being more productive than what is usual for me.

Really hope she gets better and it gets sorted!

Best wishes

Lucy

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Hayley25
Hayley25
in reply to LD28

Thank you xx

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PCDalisonj

Hi Hayley, in answer to your Q, In passing I asked the UK PCD consultant about the relationship between PCD and other respiratory disease . He said PCD always have that wet rattle whether well or ill. I’m so sorry you are going through this Don’t give up on your search for answers .

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Oscels

Hi Hayley :) I'm in Brisbane and my two little ones (Oscar 9 and Elsie 5) are currently being tested for PCD. Both have constant wet cough, both have had grommets in and adenoids out, Elsie twice, and both born with respiratory distress, Oscar pneumonia and Elsie just needing oxygen for 10 days. We were chasing an answers for 9 years about the coughs and Oscars epic constant sinus infections. At Elsies last ENT appointment in June when her grommets failed again right after surgery her Dr mentioned PCD, which was the first I had heard of it. I requested every medical record the hospital or gp's ever had on the kids, got a referral to lady cilento and rang and harrassed them until we got it. Both started with ENT team, Oscar had scans for raging sinus infection and Elsie is being fitted for a bone conducting hearing aid. Then 2 weeks ago we had our first respiratory appointment for them. They started with lung function tests, nasal nitric oxide testing, chest xrays and general huge talk about history where I gave them all I had on them. Last Monday we went back for sweat tests for cystic fibrosis (negative), and next we are waiting on a date where they will both go under a general and have flexible bronchioscopies, contrast dye lung scans, cilia biopsies, bloods for genetic testing and sputum samples. I think they have pushed these til after Christmas now. What state are you in? I know how frustrated you feel, most gp's I know have never even heard of PCD. I feel like I have entered another world and the waiting and not knowing is driving me crazy. Happy to chat further if you want, Amanda :)

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