The first time my parents heard the words “cystic fibrosis”, they were rolling off a doctor’s tongue as the condition was diagnosed in their first child, my big sister, within her first day of life.
As a parent myself, I know the vulnerability of holding new life in your arms; the sense that suddenly your own heart now beats so that your child will be healthy and happy for the rest of your life and beyond.
My parents learnt the hard way that they were both carriers of the gene causing CF. I imagine that, even momentarily, my parents felt cheated by life and scared for the future. However, they had become parents and their love for their child was unconditional.
Those next years were peppered with surgeries, treatments, medications and fear, but also with an immense amount of joy as smiles were exchanged, words formed and first steps taken. My parents continue to love Janette as much as any other parents love their children. CF did not break my parents, their marriage or my sister. It bruised them sometimes but never beyond repair.
In fact, just 18 months after Janette was born, my parents, now professionals in CF without the medical degree, were delighted to learn that they were expecting another child and eight-and-a-half months later I was born ... without CF. Knowing there was a one-in-four chance I would have CF, Mum and Dad ran the genetic gauntlet to have me, not with blind faith that they would strike it lucky, but knowing they would love another child. Period.
I don’t look at Janette and see CF. I look at her and see my caring, intelligent, hard-working sister. My daughters do not see CF when they are belting out Disney’s greatest hits with their aunt. The tax man doesn’t see CF as he clips the ticket on the pay cheque of her full-time salary. She has a genetic mutation causing CF, but she is not her illness. She lives a rich and full life in spite of CF. Even on her most unwell days, she shines brighter than any illness ever could and she has touched the lives of many, myself included.
The “diversity conversation” rarely extends to genetics, but perhaps it should. The inclusion of people from a melting pot of ethnicities, beliefs and backgrounds in our communities, education systems and corporations is a hot topic, yet many would wince at the thought of this conversation extending to people with invisible but ever-present genetic illnesses. Even more uncomfortable is the question of how many would feel about the inclusion of genetically imperfect people in their families.
To those people who feel paralysed at or jarred by the thought of bringing a genetically different child into the world, the Mackenzie Project (pre-conception carrier testing for up to 500 genes linked to illnesses, including CF, with the option for subsidised IVF) may be an important step in the family planning process. The $20 million trial with 10,000 participants could start next year. However, with all of its benefits and positive intent, the project cannot stop even the most genetically perfect families from receiving curve balls - accidents, lifestyle illnesses, even the human condition itself can cause mental illness, addiction and any number of ailments. Life is a near-death experience regardless of how your parents’ DNA reads.
If there were a scale which registered couples from “blissfully ignorant” to “acutely aware that their offspring may carry a genetic birth defect”, my husband and I would have registered off the charts. I was born a sister to a person with CF and I married a sciencey-guy. Yet we did not undertake genetic testing before starting a family. Several years and two babies later, we still have no idea if either of us carry the gene causing CF or any other genetic illness and for me this was a conscious decision. We have never pined for a child with CF, however if the children we pined for had CF, we knew they would receive all our love.
Whenever I considered genetic testing, the ethical question always became: “If I could tinker with Janette’s DNA to rid her of CF, would I?” One way or another, CF has made her who she is: she met her husband while in hospital because of her CF. Her best friend had CF. She, CF and I have rumbled and tumbled over the years, shaping us both into resilient, compassionate, loving sisters. I wouldn’t change any part of who she is.
Science is shaping and mostly improving our lives and life expectancy dramatically. In the same way that I would never tell a couple whether or not to terminate a pregnancy when a genetic abnormality is detected, I would never tell a couple not to undertake genetic testing if that is what sits with their value system. I would, however, encourage them to look around at the differences which exist in us all.
I would never wish cystic fibrosis upon anyone. But while a Utopian world where genetic illnesses could be bred out sounds great on the surface, it might be a world without my sister and lots of people like her.
Anna Knuckey is an advocate for people living with cystic fibrosis and their families.