The diagnosis of cystic fibrosis came double for one family.
“Because I’ve had 30 years of crap in my lungs, the damage is done now. It’s just there, and that’s it.”
Bea is 38 and suffers from a relatively mild form of cystic fibrosis. Over tea in her living room, she tells me about how this went undiagnosed until she was 34. When she heard her diagnosis her first thought was: “Oh. I know what I’m going to die of.”
Having missed out on years of physiotherapy, lung medication and health checks, Bea’s CF might never have been identified if it had not been for her son Alec. Three-and-a-half weeks after his birth, Alec was diagnosed with the disease thanks to the heel-prick test, used since 2007 to screen blood from newborn babies across the UK for five serious genetic or congenital diseases that are particularly harmful if not detected early.
By chance, Bea later happened to mention to one of Alec’s doctors that she had not been able to shake off a cough that she’d had for years, and that she had also suffered a bout of pancreatitis fairly recently.
Five months later the diagnosis came back. “I couldn’t even speak. I don’t remember what [the lady on the phone] said afterwards, to be honest. I put the phone down and sat on the sofa. [My husband] had popped out to the shops. He walked back in through the door and I told him. We just sort of stood there for a few minutes looking at each other.”
The full impact didn’t hit her until she had a sweat test to confirm the severity of her diagnosis – one symptom of CF being an abnormally high concentration of salt in your sweat. Bea’s score was practically the same as Alec’s. “That put me on my arse, it really did… That was the day I really got it in perspective… I really have got CF.”
She rang her mother and started asking questions about her childhood. “Because the symptoms are so varied, you can slip through the net… I’ve got a rarer gene and my sweat test was really high, but I got this far being fine… But there’s other people with CF who have different gene mutations, have lower sweat test scores than mine, but they’re really [doing] poorly.”
Looking back, there were signs. “When I was first born, mum said I was really skinny and constantly hungry all the time. As a toddler I had really bad coughs… and I used to get tonsillitis a lot. If I got a cold… I’d be knocked out for a week and a cough always took ages for me to get over. I’ve had earaches, chest infections, all sorts of things. When I was 21 I was diagnosed with hypoglycaemia [and told] to eat loads of sugar. [Not] a single year has gone by in my life where I haven’t been in hospital.”
Bea is more focused on Alec and does not really think about herself except when she gets ill. During Alec’s first year she remembers repeatedly putting her hand against his chest at night to make sure he was still breathing. Sometimes when he coughed he would cover a whole blanket with mucus.
“There were a few frightening moments. When he was about four months old he was coughing and choking on sputum… and his eyes rolled over in his head and he just went all limp. I couldn’t revive him and I rang the ambulance. I was absolutely frantic.” The paramedic managed to bring Alec round, and a doctor later told her that Alec’s young windpipe was probably struggling to bring up all the mucus that was being produced in his lungs.
She isn’t angry or disappointed that no one noticed her condition for 34 years. “I think the only time I’ve ever felt angry about CF is with my son,” she says. “When you first get the diagnosis it’s horrendous, you think it’s the end of your life. You mourn the child that you have – but in some way haven’t – got… I get now that he’s normal, he’s just Alec [plus] CF, but I didn’t understand it then. Any parent who gets a diagnosis like that will understand. The only way you can get over that is with information and with support.”
As Alec has grown in size and strength, Bea has found herself putting CF to the back of her mind. “I wouldn’t change him for all the tea in China,” she says. “There are women who are desperate for children… I consider myself massively lucky.” It’s a message that she is keen to broadcast. “This is not the end of the world. I sure as hell thought it was, but I don’t now.”
2/9/2014 17:56 Corrected Bea's diagnosis period, which was five months not five weeks as originally stated.