“I just want Orlaith and Elijah to know that they're here because of how much we loved them even before they were here” - mum Michaela shares her family’s journey with CF.

A little bit about Elijah and Orlaith

They are standard one-year olds, I’d say. They’re full of energy and a handful now that they’ve literally just discovered how to crawl, and in opposite directions towards things they probably shouldn’t be touching, which is great fun for me! But they’re very cheeky and really good considering everything that they’ve been through. There were challenges along the way as they were in hospital for the first five months of their life, but they’re doing really, really well now.

Chris’s diagnosis and the IVF journey

Chris was diagnosed really late and only officially got his diagnosis this January. When we got married, we started trying for children and it wasn’t happening, so they did tons of tests on me and found out that I had polycystic ovary syndrome (PCOS), and that’s probably what’s going on, but wanted to test Chris as well and then look at our options. Then they tested Chris and found no sperm – which we now know why. But at the time we thought that was the end of the road for us, no children. But then we were referred to an IVF clinic. We chatted to them and they were talking about doing a whole surgical sperm removal, because Chris’s hormones were showing that there was something there. So they did some genetic testing and found out that I was a CF carrier, which means, like one in 25 people, I carry one cystic fibrosis gene variant, but I don’t have CF.  But Chris was found to have two genetic variants which meant that he has cystic fibrosis, although they told us one of the genes was a mild form. They were surprised that we didn’t know. Until this point he had lived a pretty normal life. They asked whether he had a lot of chest infections in his life and he said yes but “I’m from Scotland! It’s always cold and I thought it was just that.”

We then went through genetic counselling and they said that you have an increased chance of having a child with CF and we were offered Pre-Implantation Genetic Diagnosis (PGD)* with IVF, which we decided wasn’t right for us. And then we went back to the IVF clinic and said we were happy to try, and if they do have CF we’ll deal with that when they get here. Then, due to the CF gene being present in both Chris and me, the IVF clinic decided that they had to put us through an ethics committee first to decide if it was ethical to let us have a child knowing that the child could be poorly and have cystic fibrosis, which now looking back makes me really angry. It shows a real lack of awareness and knowledge. The fact that they could have said no to us even trying is upsetting – then Orlaith and Elijah wouldn’t be here. Luckily we had help and our consultant for the case fought for us. When we had our 6 week scan at the IVF clinic, the nurses scanned my womb and said that both embryos had stuck and we were going to have twins!  

Early days and the twins’ diagnosis

We had to come into hospital early near the end of my pregnancy because Orlaith stopped growing. It turned out that it had something to do with her placenta not being connected properly, and that’s why she struggled in the womb so much. But when our twins were delivered, I knew there was something not right from the beginning. Orlaith needed help breathing and it took them a while to get her stabilised, but Elijah cried pretty much as soon as they did a quick slap on his back. I’d never had a baby before , but as everyone seemed happy with them, I just assumed everything was fine. CF didn’t cross my mind until their first night, and they wouldn’t feed. They were vomiting a lot of green stuff that looked mucusy and the only thing I remembered from Googling CF is that it has so much to do with mucus. So on that first night I told them they needed a test, as they were at high risk of CF. But the midwives and doctors just kept saying no, that this is just what happens after a c-section. Over the next three days, it just intensified and they kept vomiting. Elijah’s stomach got really big, and the twins were not keeping anything down. The whole time, we kept asking to see a doctor.

Then in the night, thankfully, a doctor walked into the room to do a check. She took one look at Elijah’s stomach and brought the registrar in, who looked at the bed sheet that had spots of green all over it and decided to do an X-ray. After the scan the twins were admitted and Chris said “look, I know we’ve said it a million times, but me and Michaela know that we’re CF carriers and I have a mild form of CF, could that have something to do with it?” And then the doctor confirmed he thought it was CF, which is how we finally got a diagnosis for the twins.

 A five-month hospital stay

We were then moved to the Children’s hospital, where we stayed from August to December. They did the heel prick test and tried to get their bowels moving first with bowel washouts. This didn’t work and then Elijah’s bowel was accidentally perforated while they were trying to sort it out, so they had to rush him into emergency surgery, and he came out with a stoma, at just 3 days old. They took Orlaith the next day and were able to clear all the blockage and they said she should be fine, but then there were complications and her stomach was at risk of distending, so she was rushed for emergency surgery and also came back with a stoma.

Orlaith recovered really well, but I think she would have recovered a lot quicker if she hadn’t got to the point of emergency. Because of it, she was on a lot of high-flow oxygen and her lungs collapsed because she'd gone through two massive operations in the space of the first six days of her life. Whereas Elijah had just the one surgery to get over, so he was doing really well to start with. She was the one that we were really worried about to begin with, but then they switched places before the stoma reversal because Elijah got meningitis. They had a lot of complications while in the hospital. They had COVID, RSV (respiratory syncytial virus), then meningitis, then the stoma reversal, it was very traumatic. They just kept taking my babies for operations one day after the other. In the end, they were finally well enough to come home, Orlaith in November and Elijah in December.

They gave Elijah a percutaneous endoscopic gastrostomy (PEG) in April, which has made a huge difference and has completely transformed his life. He's suddenly gone from this tiny little baby that had nothing on him to being bigger than Orlaith. They've both had very different kind of medical traumas, but now for the first time since December, we’re not on antibiotics, which is a win.

Being the only family member without CF

It’s really overwhelming and sometimes I feel like my whole family, my unit, my team, all have this horrendous disease and whenever they get poorly, they're passing it around and I'm just sitting there and I'm fine.

I’ve come out of work to look after Orlaith and Elijah because they require a lot of care and are very high maintenance. Chris works in the NHS, and I used to be a youth worker. Now all of a sudden I'm at home on my own with these two tiny humans, who I have to try and somehow raise in a world that is super scary for them. At the same time, I try not put those anxieties onto the twins because I don't want them to grow up fearing things. It’s been a really steep learning curve, so I've just kind of thrown myself into everything. I took part in Wear Yellow Day and have signed up for the parent involvement group as well. I need to know that I'm trying somehow to raise awareness and money so that Orlaith, Elijah and Chris can have the longest and best life that they physically can.

Hopes for the future