Cystic Fibrosis - getting the diagnosis

Our son Finn had cystic fibrosis. One day we had a normal, happy, healthy life, a happy, healthy one year old and a happy, healthy pregnancy. Within just three months we were arranging a funeral for our beautiful baby son, we were cystic fibrosis carriers, I was a different person and our lives had changed beyond all belief. This is a very brief snapshot of how our journey started.

Finn was meant to be healthy, there was no reason why he wouldn’t be. My husband and I are from large, healthy families; a very boring first mid-wife appointment with me answering ‘nope’ on default just went to show we had nothing to worry about. I happily walked and ran and chased my one year old around throughout my pregnancy with no worries. I was fit and happy and within touching distance of the two kids, two dogs, loving husband family I’d always expected. 

I remember going on a weekend break to Loch Tay when I was about 32 weeks pregnant, we’d just come in from a walk, the rain was doing its side-ways trick hitting the windows and skimming off the cabin roof and Rory was sleeping happily in his bed. I tried to lie down to relax but I couldn’t read anything because Finn was kicking me violently. He was always a wriggler, but these kicks were really hurting. I patted my pregnant belly and told him in no uncertain terms to ‘wise up’ and ‘chill out’. He did as he was told and didn’t cause any more trouble. Looking back I realise maybe that's when things started to go wrong.

I didn’t even think about it again until the following Tuesday when I was doing my anti-natal evening class. Finn was usually jumping about and causing trouble, sticking his feet in my ribs and making me jump while I tried to look calm and serene in front of the rest of the class. This time I got all the breathing right, I sat calmly listening to the instructor and it wasn’t until half way through the relaxation bit at the end I suddenly panicked with the realisation that I’d never had such a pleasantly uninterrupted class before. In fact, when I thought about it, maybe he'd been pretty quiet since the weekend, or maybe I was just overreacting to preganancy hormones. I didn’t mention anything to Paul but it had me awake worrying all night and even though he kicked me once or twice the following morning I still couldn’t concentrate at work so I called the midwives and went in for a check-up. Movements were back and no-one seemed particularly worried but then the nurse doing the scan calmly disappeared to get a second opinion. I swallowed down the panic and stayed chatty as the consultant came in to check the scan. They umm-ed and agh-ed and talked in code until I asked what they were checking. She very confidently told me she didn’t think there was anything to worry about. The nurse had thought the bowel was slightly enlarged but the consultant was sure it was just temporary and minor. I got sent home happy. 

The next day at work I got another phonecall. The consultant had shown the scan pictures to someone else who wanted to have a look… just to be sure, nothing to worry about. I started googling. I’d heard the words ‘echogenic’ being thrown around in the coded chat between doctors so I stuck that in and cystic fibrosis popped up. Cystic fibrosis was major, I didn’t know anything about it but I recognised the name, I think I saw a movie about someone with cystic fibrosis 20 years ago. Cystic fibrosis was serious, it wasn’t that. I kept going till I found articles about minor infections, baby swallowing amniotic fluid; I found a link to Down’s syndrome… that was scary but I could deal with it, the odds were low. At the scan there were now three people, the two from the day before and another, all three now conversing in code. They talked to me in chirpy voices and asked me if there was any health conditions in my family, had my current son ever had any health concerns. They were hidden questions, thrown in amongst other chat to not sound serious but I realised straight away they were asking about cystic fibrosis. I couldn’t believe they’d even consider that, it surely wasn’t an option. When I told them directly there was no family history of cystic fibrosis there was a change in the room. For the first time they seemed to actually talk to me rather than past me. They told me the odds were very low and that while, yes, that’s what they were asking about, they really weren’t concerned. I was booked in for another appointment the following week to check nothing had changed but left with plenty of reassurance. 

I lasted 24 hours before calling to speak to the consultant again. It took a while for her to be tracked down but she eventually called me back. I told her directly that I’d looked into it and cf seemed to be quite a strong possibility so I wanted to know what it was in my case that had made her think it wasn’t that. She fumbled. 

That was Friday afternoon. Friday night I felt contractions, they were coming and going and I was only 34 weeks so blindly assuming I was overreacting I went into the hospital. Finn was born on Monday morning. He was born with meconium ileus, his bowel had burst and needed repaired. Even then we were being told by doctors it was most likely nothing serious, sometimes these things happened without cause. The neotnatal consultants actually suggested odds of about 1 in 10 that it was caused by cystic fibrosis. Finn’s surgeon mentioned in his experience it was closer to 2 out of 3 meconium ileus cases that were caused by cf. I don’t know if they themselves just hadn’t bothered to look up the research or they just assumed I wouldn’t, but I quickly realised the odds were actually more like 9 out of 10. 

The constant reassurance only made me lose trust in what we were being told. I still fully expected us to be the 1 in 10 that turned out to be fine. He needed an operation and it was going to be a dangerous operation and tough recovery but ultimately I assumed when it was fixed it’d be over, a story he could tell his kids someday.

It was after Finn’s operation that Paul and I started to talk about the cf seriously. It was always a practical chat. We said the words ‘cystic fibrosis’ cautiously. It seemed sensible to look up some information and understand what we were dealing with but we never let on to ourselves or anyone else that we were worried, the reality was too hard to imagine, we still always believed we’d get a negative test result. I read a lot, I read everything on the Cystic Fibrosis Trust’s and the Cystic Fibrosis Foundation’s websites but I did it in private. I didn’t want to admit to Paul or my parents how worried I was. I watched YouTube videos of parents describing life with a child with cf when I was expressing milk for Finn alone in my room. I kept the volume low and made sure to close the windows down before I came back downstairs and underplayed how much I now knew about the disease.   

I was terrified, I knew Finn would know no different, he would cope. I knew Paul and I would adapt, it would become a new normal but I cried when I thought of how Rory’s life would change, of all the things we wouldn’t be able to do as a family, of all the attention Rory would miss out on, of all the film’s I’d watched when the older sibling gets ignored and suffers silently. I don’t know why that was my focus, maybe focussing on Finn’s life was just too much, but in the middle of the night I cried for Rory.

Still with our brave faces on we took in the news that the results had come back positive. Finn had cf, he had two copies of the F508del mutation, one from me and one from Paul. We’d given our son cystic fibrosis. 

In our heads we were prepared, I knew the instant the consultant walked into the room. Finn was only a week old, he’d had the test 2 days prior, had they not found anything they’d have kept looking for up to a week. If the consultant was there it meant they’d found it. We got walked along the corridor to the comfy room like it was a death sentence. We held hands, we sat down, we took the news, we said very little then the consultant and the nurse left us alone. I can’t really remember what happened next. I probably cried, Paul probably cried, but I don’t remember it. I remember coming out of the room feeling brave. I remember walking back to his bedside thinking 'we can handle this'.

I remember sitting in the car realising that my life had changed, that I’d probably never return to work, that the manuscript I’d been writing in the labour ward would probably be the last I’d ever publish. I remember suddenly realising that the job I had complained about so much, that the research I thought I’d lost my passion for, actually meant a huge amount to me. My job had defined me for so long but now I was just a mum. I was a mum before but the just bit felt new. I was going to be a carer, all the knowledge I’d gained, the skills I had, my PhD, were gone and meaningless. In years to come people would never believe I’d once held the attention of a room full of scientists in a Vienna conference hall or built a field camp in the Canadian Arctic. The realisation that I loved my job came too late and all I was left with was the guilt of realising my son had cf and I was in the car on the way home thinking about myself. I felt horrible guilt asking the specialists would Finn be able to go to nursery, like I was pawning him off already. I still feel guilt about my reaction, of course I never doubted for a second that if that’s what Finn needed that’s what I’d do, I’d have given up anything for him and Rory. As it turns out, Finn could have gone to nursery and school and I would have gone back to work. Losing Finn was the thing that changed me, not cf. That version of me died with Finn, going back to my pervious job was the final hurdle I just couldn't clamber over.

I remember arriving home after getting the positive test result, opening the door, seeing my dad and blurting out ‘it’s cystic fibrosis’. My dad said ‘oh shit’ and grabbed me and then I remember all my bravery receding and crying for what felt like the first time. I remember seeing my mum through tears, frozen at the kitchen door. Paul went upstairs to get his own head straight while I filled everyone in.  

That was it, Finn had cystic fibrosis, that was our life and there was no point dwelling on it. I needed to read more, learn more, and most importantly I had to get my shit together, eat lunch then get back to the hospital where my son was recovering from his operation and needed his mum to sit uselessly at his bedside for however long it took to get him home. 

We were in the club, we didn’t want in the club, then 11 weeks later we lost Finn and I can’t put into words how much I want back in.