Our Diagnosis Story

Hi everyone! Welcome back. I thought I’d tell about how we discovered the world of PCD.

We have 5 kids. That brings a certain amount of experience and knowledge. (And chaos, but that’s another blog post altogether…)

I had a difficult pregnancy with U5. Emotionally, I felt quite strange. I felt lost and hopeless. It was as if there was a constant dark cloud hanging over me, a feeling of emptiness and sadness. These feelings went away after the birth of my son.

The whole 9 or so months, I had a constant and inexplicable hacking cough, which ‘miraculously’ disappeared as soon as my baby was born. I now feel, given the situation, that it was nature’s way of giving me a taster of what life would be like for my son…

As a parent of two children with PCD, I’m constantly aware of their condition. When I look at them, I feel a squeeze in my heart – a strange mix of fear of the future, pride at their strength and resilience.

That’s not to say that we haven’t had a few sad moments. Or scary moments. Or plain frustrating moments.

Sad – Like the time U5 was diagnosed with new, different antibiotics (again) to take alongside his normal prophylaxis. He’s not good with ‘new’. He said some profound things for a seven year old, that haunt me.

‘When will I stop having PCD? I’m tired now. I don’t want to have these medicines all the time. I just want it to go away.’

I’m lucky enough to have an extended family around. Everyone soothed him and pampered him and helped him through his little breakdown, so thankfully he had his medication, and also perked up a bit when he got some presents. It’s the little things, eh?

Scary – when we took him into the hospital at three days old and his oxygen saturation was 85%. The nurses rush to put him on oxygen and frantic call to the doctor for help. Scary.

Frustrating – the explanation I had to give EVERY single time I asked for swabs to be sent in for cultures. This has to be done once in four to six weeks – and yet, every single time I had to go through a lengthy explanation about PCD and why I needed these tests done. I finally snapped, and asked them pointedly why all this information wasn’t already recorded in the patient database.

I’m extremely grateful for our early diagnosis. U5, who is 9 at the time of writing this post, was diagnosed at 3 days old – possibly the youngest patient to be diagnosed with PCD at that time. U3, who is now 16, was diagnosed at the same time at age 7.

With her, we knew something was up but just didn’t know WHAT. I’d even taken her to the GP just two months before U5 was born, but all we got told was that her chest is clear and there’s nothing that can overtly seen to be the matter. We were sent off with a nasal steroid spray. How wrong was the GP! If he had had any awareness of the symptoms of PCD, he would have taken me seriously when I said that my child has had a wet cough since birth, and always has a runny nose. Those two symptoms alone are enough for a test to confirm PCD. But of course we didn’t know this then, and neither did the GP.

The GP can’t be blamed. PCD is so rare that it’s not on the radar for the most part. And this is why raising awareness is so important. Amazing people have been working on this years. Fiona Copeland is one – find her on instagram and Twitter @pcdmum

Hers is one of the first stories we encounter on the PCD Family Support Group – the first stop on the internet for all the newly diagnosed patients and their carers.

This early diagnosis was a lucky string of coincidences. I was in a state of mild depression due to the difficulty of this pregnancy. I had a gut feeling that something wasn’t right. I just didn’t know what! All the ultra sound scans were clear. They didn’t pick up on a really important clue (more on that later). All I knew was that I was having another little boy.

U5 was born at term. He arrived on a Friday, quickly, without incident. He was wiped, wrapped and handed to me – the most adorable little bundle – all doe-eyed and cute. Then, he did an odd thing for a newborn. He coughed. That may not seem so odd. Babies cough and sneeze. But do they sound like they have a chest infection 5 minutes after being born? Odd…

We were discharged, and happily went home with our little bundle. But for 2 days my husband and I wondered at this little baby. Didn’t his breathing seem a bit quick, and shallow?

On Sunday, the midwife arrived for the 3 day check up. I asked her to check the baby’s breathing. She was an older lady, very comforting and grandmotherly. She counted his breaths per minute and decided to send us to the hospital. Not because she was worried, she said – but just for reassurance. Hers and ours.

At the hospital, the nurse was chatting casually as she checked him over. She then attached an oxygen meter to his finger to check his oxygen levels. The machine registered 85%. She said that the reading must be incorrect because that’s too low. Or the machine was faulty. ‘Not to worry – we will try another machine.’

85%. Again. And again.

The nurse went into panic mode. She immediately alerted a doctor. There was pandemonium for a few minutes. My baby was immediately hooked up to an oxygen mask. The doctor blasted oxygen into him and monitored his levels on the machine. His oxygen levels thankfully went up to 95%.

An x ray machine was ordered. The technician came to the room, rolling the machine in front of him because the baby couldn’t be moved and taken to an x ray room. An X Ray was taken. There were now two doctors and two nurses administering to my son.

I was in a panic. What was happening? What was wrong? This is when the doctors told me that 85% oxygen saturation in the blood is extremely, dangerously low. They needed to get to the bottom of what was causing this. They were debating on whether or not to admit us, depending on what showed up on the chest x Ray.

And what showed up on the x Ray was a shock to our family. My son’s heart was on the right side of his body! All his internal organs were reversed.

‘He has situs inversus,’ said the doctor. ‘I would advise you not to google anything at this point.’

(Situs inversus? I googled like mad as soon as she left us. It turned out that all of U5’s internal organs are reversed. And thankfully all work fine. It’s miraculous. And yet – none of this was picked up during any of my pregnancy scans. Why? I have no answer.)

‘We have decided to admit you. We will have to start a course of intra venous antibiotics as a precaution. We will take some blood samples and test them to see if there are any signs of infection. We need to conduct investigations to get to the bottom of this.’

We spent 10 days in hospital. For the first 24 hours, U5 was not allowed milk except for 100 ml every 4 hours. because of his high heart rate. The doctors were investigating, and told me the risks of the baby having fluid in his stomach. It was quite hard to watch my baby cry with unsatisfied hunger and not be able to feed him. He had a cannula in his little hand, an oxygen mask over his face and an NG tube in his nose.

On our second day in hospital, we met the wonderful Professor Chris O’Callahan, Professor of Respiratory & Paediatric Medicine, UCL Great Ormond Street Institute of Child Health. At the time Professor O’Callahan led the PCD diagnostic service at Leicester Royal Infirmary, one of only four nationally commissioned PCD centres in the UK.

Prof did a nasal brushing on U5. He explained everything that he was going to do and why he was doing it. He told me something that I will never forget, and that gave me immense comfort then, and every day since.

‘If it turns our that your son has PCD, then he is in the best place on earth for diagnosis and treatment of PCD.’

Well, my son’s nasal brushing showed abnormal cilia. We were looking at a certain diagnosis of PCD. And I was surrounded by experts! We met the lovely Alison Claydon, Cystic Fibrosis Specialist Nurse at the time (and now PCD specialist nurse) – who armed me with information and with a paediatric adjunct for airway clearance for my son. We started physiotherapy. She told me that it was actually good for my son to cry because it would help him clear his secretions by making him take in deep breaths.

I now knew for sure that PCD was what my daughter (U3) also had. I asked Professor O’Callahan why my daughter didn’t have the same uneasy breathing as a little baby that my son had. He explained that baby boys actually have smaller airways than baby girls, and that my son’s smaller airways were actually blocked with excess secretions, while my daughter’s airways would probably not have been completely blocked.

I was overcome with retrospective guilt. Why didn’t I do more to help my daughter reach a conclusive diagnosis? I thought back to her first few days. She had also had a cough at 3 days old, and a runny nose. Why hadn’t I visited the doctor instead of endlessly wondering what was wrong?

‘PCD is what I have. It’s not who I am.’

I remember reading this on the first PCD Family Support Group newsletter that I read when we discovered that we are a family with not one, but TWO children who have PCD. I can’t remember exactly who said it, but the sentiment has stuck with me. I hope to pass this on to my PCDers. After all, they are the ones bravely living with and dealing with this condition.

And it IS a ‘condition’. We use words like ‘rare disease’ (which I think frankly sounds contagious!), yet disease isn’t the right term.

PCD is NOT contagious. It’s something that my kids live with. Deal with. Contend with. Like Prof O’Callahan said to me, ‘This is normal for her. She hasn’t known anything different.’

PCD is one part of them. They have other parts of their lives too. U3 likes to read. She loves to draw, and paint, and bake. And she has to do physio twice a day. It’s just another part of the routine.

I’ve tried to make it as normal as possible. It’s part of the daily routine and rhythm. Sure, we have difficult days, but on the whole I think we are getting there. We can’t allow this condition to define us completely.

One physiotherapist mentioned something ever so useful. She said positivity plays a huge role in mental well-being. She said thinking of the glass as half full instead of half empty can hugely impact attitudes. Makes perfect sense to me.

(One thing I’ve tried to do is to make them ‘own’ their routines. Each child has a pretty little tin with all the paraphernalia that might be needed for a physio session – adjunct, tissues, hand sanitizer (this was way before covid-19 days!), small nappy bags to hold used tissues and a toy which encourages blowing. Also, they have what I like to call the ‘landline’ and the ‘mobile’ – a tin that stays home, and a tin that travels. U3 has a girly bag, and U5 has a cute backpack that carries all the ‘mobile’ stuff. That way, we always have everything we might need for an impromptu physio session. This tip was given to us by Rajinder Kang, physiotherapist extraordinaire. (Thank you, R!) She suggested always having tissues, and a bag to dispose of used tissues, to hand at all times when travelling. So we took it one further and made ourselves ‘physio packs’. )

We have so many amazing people who have helped and continue to help us along in this journey of ours. We are grateful. And as a mum, I’m very proud of my #pcdheroes.

Thanks if you’ve stuck it out and read this post to the end 🙂

Visit https://pcdsupport.org.uk for more info on PCD.

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