Cystic Fi-what?


“The greatest wealth is health.”  ~Virgil

This will be another 2-parter. I was going to attempt it in one post, but then I started writing and realised it was just going to be TOO LONG. What’s it about? Well, remember when I was prattling on about Ethan Hawke I mentioned that Gattaca frightens me a bit? Well, that.

In May 2008, my first child was born. Our little boy came into the world an epic 43 hours after my water broke. To say I was tired the next day was a bit of an understatement.

Fast-forward to the day before he was four weeks old. Me excitedly getting ready for my first Mother’s Group meeting at the Maternal Health Centre up the road. Husband goo-goo-ing at the baby. And then the phone rings.

“Hi, this is blah blah blah from the Royal Children’s Hospital. Am I speaking to Katie?”

Me- Confused. How’d they get my name and number? I’ve never been there. Cold-calling for donations, perhaps?

“Your son had a heel prick test when he was first born and the results suggests he has some indicators for Cystic Fibrosis.”

Me- room does that thing like in movies where it tips on it’s side a bit and we zoom in on the protagonist furrowed brow.

“Hello? Hello?”

Me- hands phone to husband (who has to figure out who is on the phone and what we are talking about) and picks up the baby who, on cue, has started crying. Like he knew something major had just happened.

So, she casually tells Colin that I will need to bring the baby in for some tests. That doesn’t sound so bad, she’s pretty calm,  until she says “You need to come in tomorrow morning.”

So off I go to my first mother’s group to talk excitedly about our wonderful little bundles. Except I can’t. I just kind of drift off into my own thoughts about chronic illnesses. They must have thought I was a bit low on the social skills. Or just really, really tired.

Going to the Royal Children’s Hospital the next day was surreal. We had to go up to the top floor of the old part of the hospital which seemed to be a horrible, windowless building painted in depressing shades of blergh with sad and exhausted parents sitting in the hallways and small sickly children walking around with IVs. Until we got to the top floor. The Genetics department is all glass and glowing white and minimalism.

It was here we met our “Genetic Counsellor” who told us all about how our child has come to have a genetic indicator for Cystic Fibrosis (CF).Further tests would confirm if he was merely a carrier or if he actually had CF.

Without getting too fancy with the medical talk, basically our Chromosomes are in pairs. We got one from mum and one from dad for each of the 23 we have that make us who we are. One such pair is called the cystic fibrosis transmembrane regulator (CFTR). When they are both mutated, Cystic Fibrosis occurs. You can have the following combinations:

Normal CFTR from mum + Mutation from dad = Carrier

Normal CFTR from dad + Mutation from mum = Carrier

Normal CFTR from mum + Normal CFTR from dad = Not a carrier and does not have CF

Mutated CFTR from mum + Mutated CFTR from dad = Has cystic fibrosis

So, the statistics for actually being born with CF are as follows: if both parents are carriers then there is a 1 in 4 chance of them producing a child with CF. There is a 1 in 2 chance of them producing a child who is a carrier. If only one parent is a carrier then there is ZERO chance of the child having CF, but a 1 in 4 chance of them being a carrier.

The counsellor said that Colin and I would need to have blood tests to be screened for indicators. If we were both carriers, regardless of whether or not our son had CF, she implied we should not have anymore children.

So, quick recap, in the space of 24 hours we had gone from happy family like on a Huggies ad to possibly having a child with an illness that would half his life and not being able to have another biological child. Bad day, to put it lightly.

After all this doom and gloom we went back downstairs to do the “sweat test” on our darling tiny boy and for me to have a blood test (they are rather expensive tests for them to run so they only do one parent and then see if the second needs to be tested also).  The sweat test was kind of funny. I can’t imagine how they came up with this as being the conclusive test for CF. My blood test was pretty standard, except that it takes them WEEKS to get the results.

The sweat was analysed immediately, and by the time I was half way home in my car, I got the call to say he was fine, just a carrier.

Biggest sigh of relief known to mankind.

My test came back positive as a carrier. Colin was then tested also. I think it was a total of 8 painful weeks of smiling and nodding when people jokingly ask you when you are having the next one (why do people do that? Just had a baby….let’s have another one 2 months later!!) when really we were thinking “CAN we have another one?”.

Colin’s test came back negative, to much relief. The incidence of being a carrier for people of Asian decent is much lower.

So where does this leave us? Well, there is still a lot of research to be done for CF and how it is passed along. A lot of my extended family have been test to help with the study. As for our son, when he is old enough to understand we will have to explain to him that if he wants to have biological children, he will need to find a partner who is not a CF carrier.

Stay tuned for part 2 of why Gattaca scares me a bit, or the horrors of Future World in my paranoid mind.

5 responses »

  1. I found out during my pregnancy screening that I am a CF carrier. It made for a terrible two weeks while we waited on my husbands’ screening results. Thankfully hubby was negative, and our daughter’s heel-prick result came through clear too. I’m encouraging my brother to get tested when he’s back in the country – I wish I’d known up front.

    • We knew nothing of it. When I was born (or even 10 years ago when my brother’s kids were born) they didn’t test for this kind of thing. My brothers still haven’t gotten around to getting the test yet, even for the sake of helping the research let alone for their own piece of mind.

  2. Pingback: Paranoia Future-land « thisgirlinmotion 2.0

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