Primary Ciliary Dyskinesia (PCD): “I've gotten better at saying ‘no, I'm actually not fine and here's why.’”

Hello Michelle! Thank you so much for agreeing to share your story with the Carenity community.

Could you start by telling us a bit about yourself? We’d love to know more about your background, daily life, and what brings you joy.

Hi, my name is Michelle Robinson. I’m 34 years old, and I live in Northern Ireland with my husband and our two spaniels, Scout and Margot.

I work full-time in communications for a conservation charity, with a real love of nature. I also volunteer with PCD Support UK, helping them to raise awareness and advocacy for PCD across the UK.

On the weekends, you’ll find me grabbing a coffee and a good pastry on the days I’m well enough, or curled up on the sofa with a book and the dogs on rest days.

Photo courtesy of Michelle R.

Could you explain, in your own words, what PCD is and how it affects your daily life?

Primary Ciliary Dyskinesia (PCD) is a rare genetic disease affecting 1 in 7,500 people in the UK. It is caused by abnormal motile cilia (motile cilia are the microscopic hairs that beat in the airways, sweeping secretions out of the respiratory tract). PCD can impact the lungs, nose, sinuses, ears, and fertility. Essentially, it creates too much mucus in your body, which then makes it hard to breathe, and causes constant infections.

Breathing should be an easy thing for everyone. Often, people say 'it's as easy as breathing', obviously said by someone who's never had problems with their lungs… it's always a challenge navigating stairs and long distances, and it causes fatigue. I find myself tucked into bed by 9pm most days, as I get tired easily, especially on days when I've had to do more than usual. It’s very much a life of weighing risks versus rewards. Can I go do this thing I really want to do? Yes, but you’ll need to rest before and after.

Can you tell us about your journey to being diagnosed with PCD? What symptoms did you initially experience, and what was the path to getting an accurate diagnosis?

I was a sick kid, getting regular tonsillitis, chest infections and general malaise, but it wasn't until I was in my late teens to early twenties that my symptoms really started to kick in. I had been diagnosed with asthma as a child, but the older I got, the more chest infections I got and the more unwell I felt on a regular basis.

At age 21, I was sent for a CT scan by my GP. The results came back showing some complications with my lungs, but most importantly the fact that I had Situs Inversus—that's when your organs are the wrong way round. On its own this was nothing to be concerned about, but adding in my symptoms, they were convinced it was possibly something else, and I was referred to the respiratory clinic where they shared the idea that I had PCD. However, genetic testing is not available in Northern Ireland and my specialist didn't think it was important to get an 'official' diagnosis as it wouldn't change the outcome of my treatment. I agreed, up until the last few years when I realized how important it was for me to have this diagnosis, and just last year, in 2024, I went to England for genetic testing where it was confirmed that I had PCD.

And at the end of last year, I was also diagnosed with bronchiectasis and middle lobe syndrome. (partial collapse of the lung).

What does your current treatment and management routine look like?

For me, every day can be really different, but regardless, my daily routine consists of nebulizer treatments, followed by physio to help clear my airways as much as I can. I try to go for a walk every day at lunchtime to get some exercise and movement if I'm feeling well enough. It’s also a lot of blowing my nose to keep my sinuses clear, otherwise I end up with a migraine. I also use inhalers throughout the day and finish with the same routine before bed.

What are some of the biggest hurdles you’ve faced while living with a chronic illness, and how have you learned to navigate them?

Living with a chronic illness really does have its challenges, and often in ways that people don't really appreciate. I've mentioned before that it's often a matter of balancing risk and reward. What I mean by that is, for example, going on holiday. Flights are a hazard in themselves, a confined space with lots of people and no real air, so I know that for the first few days after a flight, I'm going to be congested and feel a bit rubbish, so I need to rest.

Mentally, I've definitely struggled with living with a condition that's out of my control, especially when I can no longer do the things I used to enjoy because my body can't handle it. Yet, I try to focus on the positive and appreciate the little things in life as much as possible. Whether it's meeting friends for a walk with the dog or going out for coffee with my husband.

I work full-time, and I'm incredibly lucky to work remotely, so I'm based at home full-time with a compassionate team that is more than happy to step in when I need support or time off due to illness. They are also the first to tell me to log off and get some rest when I need it. But it's still a challenge when I'm working on something and end up missing out because I've got an infection. Or I can't go to a team day because the risk of catching something from other people is too high.

For me, it's just about doing what I can when I'm well and then taking rest when I need it, and learning to understand my limitations but not letting them stop me from living my life. It's a balancing act, and sometimes I don't get it right, but that's a lesson to learn for another time. I'm very lucky to have people around me now who understand, but I've definitely lost friends because they didn't understand and were quite negative about it, making me feel like a bad person for not being able to do the things they do.

The biggest hurdle for me has been learning to accept that I'm not going to have children. It's hard when you feel like the choice is being taken away from you and the life you envisioned is going to be different.

Has your outlook or approach to life changed since your diagnosis? What are your hopes for the future, both personally and in terms of PCD research or awareness?

I definitely think my outlook has changed as I have gotten older and my lungs have gotten worse, it has made me adapt how I live my life, especially knowing the chances of my lungs getting worse with time is high. I take the opportunities to do things while I can now and like I said, appreciate the little things. One of the real positives of having a condition that affects your life is that you learn sooner than most that a lot of things really don't matter, it's the experiences and people around you that do.

My hope for the future is, of course, for a cure or medication to help manage the condition more effectively. That's one of the reasons I volunteer with PCD Support UK, because they are actively working with people to try and find better ways of managing the condition. I really want more people to be aware of PCD because half the battle is constantly having to explain it to people who just look at you in confusion.

I am actively trying to find people with PCD in Ireland so that I can understand the treatment they are getting and how we can advocate for a better, more consistent approach, because at the moment there isn't one.

Has having PCD influenced your relationships with friends and family (including your four-legged family members)? What role has their support played in your journey?

People really struggle with my PCD, mostly because they don't understand it or how it affects me, and I'm probably guilty of always saying "oh I'm fine" even when I'm not. But I've gotten better at saying “no, I'm actually not fine and here's why”, and not feeling guilty when I have to cancel plans because I feel unwell.

One thing I would say to anyone supporting someone with PCD is to let them guide you. Don't tell them why they can't do something unless you think it's for their own good (we love to push through!), but let them set their own limits and trust that they know their body better than anyone else. PCD won't stop you from living your life, you just have to adjust how you do it.

One of the hardest conversations I've had was with my husband. Of course, when we first started dating, I told him all about my condition, but when things started to get serious, I had to be honest that I might not be able to have children, which turned out to be true. He's very supportive, and I've definitely chosen the right person to face life with, but I imagine it's still hard for him to watch his partner go through something he can't help them with.

Having our dogs has really helped me, for one thing, it means I have to get up, they always need to be fed or let out or walked. While my husband does most of the dog walking, they are great company for me when I'm not feeling well and need a cuddle on the sofa. They truly are my emotional support.

Finally, do you have any words of encouragement or advice for others living with PCD?

I would say that support is out there and finding a community of people who understand what it's like is so important. Never be afraid to reach out to someone, ask questions, and advocate for your own health journey.

Something I wish I had known earlier is that it's not a death sentence, it doesn't mean you can't still live your life. I know people with PCD who are scientists, race car drivers, fashion stylists. It's a PART of you, but it's not ALL of you.

A big thank you to Michelle for sharing her story with us!

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