Any advise please ❤️ Bronchiectasas (kartenger syndrome)

[Hannahdav19]

My daughter have had on going problems since her birth after a traumatic distressful birth, firstly I was told it was a chest infection and she swallowed meconium, 3 weeks after being in SCBU she came home for two days to be readmitted with pneumonia and left lung collapse and upper lung lobe right lung collapse and went on to have a fundlipicatilon and she’s gastrostomy fed, she’s 9 years old now and she’s my little star, today Iv had the devastating news she got either one or the other of lung disease bronchiectasas or PSD (rare mutation of genes) (Kartenger syndrome) if there anyone out there that can share any information or support with me il be so greatful

[JANET127]

When I need information on Health syndrome's I go to my search engine and type in MAYO CLINIC MINNESOTA and it takes me to their site. The MAYO CLINIC in the United States has made a big name for themselves! I love what I learn from there! God be with your daughter! Janet127

[Hidden]

Hello Hannahdav19. I don’t know anything about Kartenger syndrome but I have had extensive bronchiectasis since I was 3. I am now 68. I had a normal schooling, travelled the world both before and during my marriage, had and raised two healthy children, ran a business and I still volunteer, socialise, and help with my grandchildren. I hope that this brings you some positivity as you and your daughter battle on. After such a traumatic birth and probably ingesting fluid into her lungs, what followed and an eventual diagnosis of bronchiectasis makes sense to me. Bronchiectasis is really a condition which comes about because of a trauma to the lungs, usually whooping cough or pneumonia or injesting a foreign body.

Your daughter is an amazing character for coming through all of that. If, as I suspect, she is left with bronchiectasis she can have a very full life but I cannot stress enough that you and she have to be in charge of it.

It is a matter of daily management of the symptoms- emptying the lungs of any fluid every day, recognising when an exacerbation ( infection) is starting up and having systems in place to start antibiotic treatment immediately. She needs to learn how to breathe to use her lungs properly and to practice this physio every day. I had 6 years of visits to a physio unit for this and spent twenty minutes twice daily practising until breathing that way was my way of life. Plenty of exercise and fresh air and very importantly, not being treated as an invalid. I did everything that my school friends did.

From your post and reading how far you and your daughter have come so far I am sure that all of this would soon become routine for you.

Your daughter will need a paediatric bronchiectasis specialist. General respiratory consultants and most GPs know very little about it. They are not easy too find so I suggest that you get on your computer and when you find one ( Probably at a large teaching hospital) take the name to your GP and insist on a referral. ( I am presuming that you are in the UK).A good GP who is guided by the specialist is invaluable.

It took my parents three years to find a specialist who gave me the treatment which I have described. The regular doctors just kept writing me off, saying I wouldn’t survive another pneumonia.

Good luck.

[Hidden]

Just another thought. I am very unhappy about invasive procedures such as scopes in the diagnosis of bronchiectasis. This can be done by ct scan. Do ask them why they need to take biopsies as bronchiectasis would not need this and surely a gene mutation would be investigated via bloid tests. I was diagnosed by bronchogram in the days when scans did not exist and it was awful. They are too quick to use these toys when with bronchiectasis, someone who knows what they are doing would not need to put your daughter through this.

[Hidden]

I have just been reading about PCD. It is very interesting as it seems that it can lead to bronchiectasis if untreated. The treatment for it is as I described for bronch. The lack of cilia in the airways and lungs is a feature of PCD and bronch. There was no genetic testing when I was tiny and as it has never been known why I kept getting the pneumonias which resulted in bronchiectasis, it may be that I have PCD which is how I ended up with bronch. Thankyou for bringing this to the forum.

[cofdrop-UK in reply to Hidden]

Probably unlikely you have pcd LP as you have children.

Cx

[Hidden in reply to cofdrop-UK]

Why? Does it prevent you reproducing?. It doesn’t say so on the website. The symptoms in very young children and the development are so like me. If it is I survived it and obviously live with it’s consequences and didn’t pass on my genes.

[cofdrop-UK in reply to Hidden]

It effects the cillia. ghr.nlm.nih.gov/condition/p...

Cx

[Hidden in reply to cofdrop-UK]

Thanks for sending that on. There are things like the cillia problems and repeated infections, sinus and ear problems which are common to us. I see that PCD can manifest with much more severe problems such as misplacement of organs but in its mildest form it could account for why those of us who have never had an explanation of why we had infant pneumonias which left us with bronch. After my recent visit to my con and our new physio who has come to us from the world of cf and learned that there are dozens of cf genes which are not tested for and which we may have, nothing would surprise me.

At the end of the day it is only an explanation, not a cure, a bit like an orphan searching for their roots.

I’m sure that you know already about the public workshop that the FDA are holding on June 27 about the development of inhaled drugs for cystic and non cf bronch. I might try to access it.

[cofdrop-UK in reply to Hidden]

Absolutely agree LP. Quite interesting FDA are running this public workshop re inhaled abs when it was they who didn’t approve Linhaliq!

Cx

[Hidden in reply to cofdrop-UK]

Hmmm

[Robin77 in reply to cofdrop-UK]

Is this the meeting in DC in July?

[cofdrop-UK in reply to Robin77]

The one I’ve seen is FDA's White Oak campus, 10903 New Hampshire Ave., Building 31 Great Room, Silver Spring, MD 20993. I have emailed ERS to see if there will be any representation from ERS/EMBARC. Will let you know when I hear.

Cx

[Ergendl]

I cannot add anything to the informative posts above, but just want to wish you and your daughter all the best as you continue your fight to give her the best life she can achieve.

[cofdrop-UK]

A very warm welcome to you Hannahdav, although I am sorry to hear of the struggles your ittle girl and yourself are having. I empathise totally as I was diagnosed with bronchiectasis at the age of 5 months old following double pneumonia and whooping cough in 1948. So you see we bronchs are a tough bunch, as indeed are our wonderful Mums.

A am assuming your daughter has had a ct scan to be diagnosed with bronchiectasis and are looking into the cause, one of which could be one of the inherited causes PCD (Primary Cilliary Dyskinesia). As you say PCD is rate. There is a lady on Bronhciectasis R Us who has PCD with situs inversus who is extremely knowledgeable. The cause of bronchiectasis, apart from the inherited forms ie. cf and pcd is more frequently infections and the history you explain would fit in with that.

The main thing you will need is to make sure your daughter’s consultant is a paediatric respiratory constulant with a special interest in cf/bronchiectasis. The most important thing, as I expect they have already explained, is that you clear your daughter’s lungs with whatever form of lung clearance the physio you are referred to and yourselves find the most beneficial.

BLF have very knowledgeable nurses who are also experienced in paediatric lung problems and you might want to give them a ring.

Those of us who have had bronch since baby/childhood had very little by way of treatment Penicillin and physio physio physio and no internet to check out the best treatment and consultants and we survived.

There has recently been an interest in non cf bronciectasis, not before time, but there are lots of very proactive consultants, especially within the European Respiratory Society who are pushing to improve the ‘lot’ of BE. There will be many trials and new treatments coming along in your little daughter’s lifetime.

Please let us know how your dear little girl get’s on.

With love

Cx