A different life: Living with cystic fibrosis
Posted on 11 April 2019
When her daughter was diagnosed with a rare disease, Nicole Capper first wanted to hide away from the world. Then she decided to fight back.
TATUM WAS BORN AT A HEALTHY 3.9KG.
I had the perfect pregnancy, the perfect delivery. A few weeks after she came home, I was holding her in my arms, and she started coughing. Then she turned grey.” Nicole Capper says she will never forget the drive to Mediclinic Sandton emergency centre. “I don’t think anyone knows, really, how you’re going to react in a moment like that. I had one hand on the steering wheel, the other on her head, in the back seat, trying to feel if she was still warm.”
Although Nicole didn’t know it at the time, Tatum has a severe form of cystic fibrosis. This means very thick mucous builds up in her lungs, continuously. In her first few weeks, the mucous had built up so much she could no longer breathe. Another symptom of cystic fibrosis is a failure to thrive. Where healthy children will grow rapidly in size and weight, Tatum’s development chart was flatlining. “I had no reason to think something might go wrong,” Nicole explains. “Joshua, our first-born, was healthy and strong. Tatum’s last few weigh-ins hadn’t been great, but I wasn’t too concerned. I thought she was just taking some time to put on her baby fat.”
The family now knows Tatum has what is known as an insufficient pancreas. Apart from its impact on the lungs, cystic fibrosis also affects the intestinal tract, making the absorption of nutrients very difficult. In her first few weeks, she absorbed almost no protein or fats. “I had no idea,” says Nicole. “At six weeks old, she weighed 3.6kg.”
UNDERSTANDING THE DISEASE
Cystic fibrosis is a life-threatening disease that affects multiple organs. It is also incredibly rare, says Dr Dave Richard, Tatum’s paediatric pulmonologist at Mediclinic Sandton. The disease affects chloride channels, which are unable to maintain the proper balance between water and salt in the body’s cells.
“This means your mucous becomes thick and sticky,” Nicole says. “And that does two things: it creates a perfect petri dish in the lungs for bacteria, causing recurrent infections and accelerated lung damage, and it blocks the ducts in the pancreas, preventing it from releasing the enzymes needed to break down food.”
The majority of people are born with two healthy copies of the cystic fibrosis transmembrane conductance regulator (CFTR) gene, which is responsible for creating mucous and other fluids in the body. Some people are born with one working copy and one mutated gene. Usually, one working copy is enough to prevent the disease. Cystic fibrosis occurs when a child inherits two malfunctioning copies.
As Dr Richard adds, “Children with this condition don’t put on weight. They also have very salty sweat and recurrent chest infections. Symptoms like these can be missed or misdiagnosed in rural or impoverished areas, where malnutrition is unfortunately more common.”
DIAGNOSIS AND TREATMENT
“We were lucky,” says Nicole. “The fact that Tatum has a severe form of cystic fibrosis meant she was diagnosed early.” For some children, milder forms of the disease can cause health issues like chest infections, delayed development and even diabetes, and aren’t diagnosed until they’re older.
Nicole, who has since become an ambassador for Rare Diseases SA that advocates for greater awareness and supportive care for those impacted by rare diseases, says the consequences of a delayed diagnosis can be catastrophic. “A lot of children in South Africa don’t have easy access to hospitals with specialists who are equipped to deal with these kinds of rare diseases,” she says. “So they may only be diagnosed, and get the treatment they need, when they’re around seven years old. By that time, the damage is severe, and may be permanent.” This can include long-term damage in the lungs and pancreas and hindered childhood growth.
A major factor in managing the effects of cystic fibrosis is the expertise at hand. “The doctors at Mediclinic Sandton looked at Tatum’s symptoms from every angle,” says Nicole. “They really worked as a multidisciplinary team.” The little girl spent three weeks in and out of hospital undergoing a range of tests before her diagnosis was confirmed. “It was as if her infections were getting worse. Her weight dropped after each setback, and she needed to be tube-fed, as she was too weak to breastfeed.”
By the time Tatum was ready to go home, with a confirmed diagnosis, a check-up protocol and a course of treatment, she was two-and-a-half months old. “When the medical team sat us down and told us what no parents want to hear, I knew we could trust them,” Nicole reveals. “They gave us the full picture: what was wrong, how they could help, what we could expect.”
As Dr Richard explains, the earlier the diagnosis, the better the outcomes. “If doctors are astute enough to test for cystic fibrosis in the first few days or weeks, we can avoid some of the nastier bugs and help promote as normal a path of development as possible.”
Children with cystic fibrosis can have up to five times the normal amount of salt in their sweat. In the early hours after birth, doctors can perform a sweat test to check for signs of the disease. The simple test involves stimulating the skin and sending traces of sweat o for analysis in a laboratory. Even with an early diagnosis, this is a life-altering condition.
“Care is crucial for these children. Their parents have to be very aware of the dangers of infection – they need to keep a close eye on which bugs their kids catch, so they can respond quickly.” Treatment involves a great deal of medication, he says. “In most cases a child with cystic fibrosis will be prescribed a range of oral enzymes, to help them absorb their food, and supplementary vitamins, to add necessary nutrients.” “Right now Tatum is taking around 40 tablets a day. That’s just enzymes,” says Nicole. “She’s three years old. This is her normal.”
LIVING WITH THE CONDITION
Two months in intensive care gave Nicole a crash course in Tatum’s therapy. By the time they arrived home, their daughter’s new schedule didn’t seem like a big adjustment. “I made two decisions in that time,” says Nicole. “Number one: we would never be victims. In the ICU we were surrounded by people who were facing far worse situations than ours. They were there when we started, and they were still there when we left. Some of those children never got to go home, and that gave me a sense of perspective.” The second resolution: to build a tribe. “We needed some help from the family and friends around us,” she says. “I’m not talking purely about emotional support, but practical things – how to use a nebuliser, how to administer her medications, when it’s time to go to physio. Tatum needs a squad capable of performing her therapy.”
Nicole says parents of children with rare diseases can fall into a trap of becoming everything their child needs. “It’s a natural response, to become that all-in-one caregiver: a physio, a pharmacist, a therapist, a nutritionist. But what happens when you are away, or unavailable – who is going to help your child?” Nicole lent on parents, and hired a nurse to train Tatum’s nanny. “We wanted to be there for the fun things,” she says. “I’ve never wanted to be the family with the sick child. I want to be a normal family, for her sake.”
DEALING WITH THE FUTURE
Cystic fibrosis is an incurable disease, says Dr Richard. “We have made several strides in improving the longevity of patients. This condition poses real challenges for both them and their parents. There is a lot of medication, a lot of physiotherapy work and a lot of doctor visits.” There is also a lot of uncertainty.
“There is no way of knowing how long Tatum will be with us,” says Nicole. “Cystic fibrosis affects her quality and quantity of life. Modern medicine has come a long way, but these things are random – at any time, she may pick up a bacterial infection out of nowhere that makes her prognosis difficult to predict.”
In the beginning, Nicole says she wanted to hide Tatum from a world of risks. Now, she is determined those dangers won’t stop Tatum from living a confident life. “She is so full of beans as it is. If I were fearful on her behalf I’d be killing that sense of adventure. I have learnt a lot from her, about bravery and how to fight.”
While her medication enables Tatum’s body to absorb nutrients from food, physiotherapy helps remove the sticky mucous from her lungs. This regular removal process is critical to her quality of life, as it allows her to be active and helps prevent infections. As she grows older, the number of tablets will increase in proportion to her weight, while the physiotherapy will become more important. “By far the most important element in any child’s life is support,” says Dr Richard. “This is especially true when that child has cystic fibrosis. There is a lot they can do on their own, like exercising to help elongate their lifespan. But consistent therapy, focused care and attention to detail: that has to come from their parents.”
Tatum has helped Nicole see the world differently. “I used to aim for perfection. Now, sick is not ‘bad’. Failure, mistakes, hardship are opportunities to grow.” Nicole says her daughter’s diagnosis gave her a sense of purpose. “I am so grateful for what I have. I would give anything to cure it today, of course, but the fact that I can’t means it is something I have to take responsibility for. I raise both of my children with intention – I want them to know they are strong and capable of taking on the world.” All that time in intensive care. All the tablets, all the physiotherapy. The care, in the face of unrelenting risk. “Being positive doesn’t feel like a conscious decision. I’m just reacting in the only way I know how. I could live in fear. I choose to believe in my girl.”
WORDS THOMAS OKES
PHOTOGRAPHS MARIJKE WILLEMS