A true hero: The fight against cystic fibrosis
Posted on 28 February 2018
Cystic fibrosis is a rare disease, and the patients and families who live with it are a tight-knit global group of people who have been tested to the limit – emotionally, financially, and spiritually. But it is in challenging circumstances like these that heroes are forged. Kayla and her mom Kerry are sterling examples.
A shocking diagnosis for a young mother
Kayla Glaser was six weeks old when she was diagnosed with cystic fibrosis (CF). This progressive, degenerative disease is hereditary – there is a 25% chance of occurrence if both parents carry the gene. It is incurable, and even though median life expectancy improvements have been made, it is still considered terminal. There is no cure.
The first sign of trouble was that newborn Kayla was not gaining weight. Despite drinking more breastmilk than a child her age normally would, Kayla’s weight dropped from 2.7kgs at birth, to 2.1kgs a few weeks later. When she dropped below 2kgs, Kalya’s mom, Kerry, took her to a paediatrician who conducted some tests.
When the doctor came back with the results, she said: ‘I think you should sit down.’
There are five main mutations of the CFTR gene, which causes CF, some worse than others. Kayla was diagnosed with the most common one – ∆F508. 70% of CF cases in Northern Europe and 66% of CF cases worldwide are diagnosed with this particular mutation.
A few decades ago patients with ∆F508 CF rarely made it past childhood, but with advances in modern medicine, there is hope. Life expectancy has improved over the years and although individuals may not have a completely normal childhood, families and the patients are able to adapt and function.
Adjusting to a new normal
As she struggled to get her newborn to ingest pills of digestive enzymes which she had to open and pour onto teaspoons of apple juice, the seriousness of the situation gradually dawned on Kerry. At the age of six months, Kayla had a gastrointestinal tube inserted to help with the medication. Kerry would spend up to three months watching life go by through a hospital window.
‘The first year was absolute hell,’ says Kerry. ‘I had two breakdowns. I just couldn’t come to terms with the fact that my child could die before me. I was scared to bond with her. I was terrified.’
Slowly, she discovered an online community of CF-affected parents who offered her support and advice. ‘At first I didn’t believe them when they said that it got better,’ says Kerry. ‘But it does. It becomes your new normal.’
The new normal consists of a gruelling routine. First there is a mucus-thinning nebulisation. Then Kayla needs to spend time in “the vest” – a vibrating machine that loosens the mucus in her chest. Then there is the “flutter” – a breathing tube that creates resistance to strengthen the lungs. This routine is repeated three times a day, every day. ‘And that’s when she’s not sick,’ says Kerry. ‘When she’s sick, it’s treatments every two or three hours, throughout the night.”’
And then there are the endless pills – a course of treatment for a lung infection can take up to 14 months!
Understanding the disease
The disease affects all the major organs, but it is felt most acutely in the lungs because the thick mucus creates a breeding ground for bacteria. This is why it is often perceived as a respiratory disease, and most CF deaths are a result of respiratory failure.
As CF patients are generally more susceptible to germs, they need to live in a sanitary environment. Visitors to the household must use sanitisers and alcohol sprays (which are all over the house) and leave their shoes at the door.
Needless to say, this lifestyle and environment is difficult for toddlers, who yearn to play and explore. Kayla is a particularly bubbly, outgoing and extroverted human being who longs to interact with others and learn about the world.
‘We had to make some tough decisions,’ says Kerry, ‘but it can’t always be a matter of quantity over quality.’ So in 2017, Kayla went to school. She was thrilled. In the first term, she lasted 10 days before she landed up in hospital. In the second term she lasted 12 days. In the third term, she ended up in ICU.
One day, Kerry overheard Kayla pretending to be on the phone with two friends she’d made at school. ‘I miss you too,” she said into the phone. ‘But don’t worry. Mommy said as soon as I get better I can come back.’
That night, Kerry cried in the shower. ‘You do that a lot as a CF parent,’ she says. ‘You cry a lot in the shower. As you walk along with them on this journey, you develop a unique relationship with this child. It’s different, and very intense. It’s strange. Sometimes I don’t even see her as a child anymore, but as my best friend. She is a true hero. I am just the backup team, a cheerleader.’
Is it in your genes?
A genetic test will tell any prospective parents if they have the CF gene. If both parents have the CF gene, there is a 1 in 4 chance that their child will be born with CF.
In Europe, America and Australia, CF testing is done routinely. And although there are cases of black and Asian babies being born with it, CF is still seen very much as a Northern European disease. There are approximately 75,000 people living with CF in the world. According to Dr Cathy Baird of the South African Cystic Fibrosis Association, there are an estimated 750 cases in South Africa. More detailed information about the disease is imminent because the CF Medicine and Scientific Advisory Committee has appointed Dr Marco Zampoli, a senior specialist in division of Paediatric Pulmonology, Red Cross War Memorial Children’s Hospital and University of Cape Town, to compile an accurate, detailed and up-to-date registry for CF patients in South Africa.
Dr Baird points out that while there is still a misconception in South Africa that CF is a ‘European disease’ – leading to unfortunate misdiagnosis – treatment has progressed in leaps and bounds due to a multidisciplinary approach from nurses to paediatricians, dietitians and other specialists, as well as medicinal breakthroughs like enzyme replacement therapies and medicines which address the actual cause rather than the symptoms of the disease.
One of the main messages that Kerry wants to communicate is: if you’re wishing to fall pregnant discuss the possibility of genetic testing with your healthcare provider. Only one of you needs to go at first, because if one of you is in the clear then you are both in the clear. (The disease can’t occur if only one parent is a carrier.)
“CF is unpredictable,” says Kerry. “There are so many mutations and it affects each kid differently. Kayla is a severe case, but you get other mutations that are mild. Some kids only get diagnosed when they are six years old. Some don’t get hospitalised until then. But the important thing is to get tested for the gene before you conceive.”
The second message is about organ donation. Kerry understands more than anybody how difficult it is to consider the death of a loved one, but the only chance that most CF patients have at a longer life is through a lung transplant. Organ donor registration is quick and easy. Do it here now.
Get to know Kayla on her Facebook page: https://www.facebook.com/CaringForKaylaGlaser/