cysticfibrosismom

I'm just a regular mom, figuring out life with my daughter Sophia, who has cystic fibrosis.Take this journey with me.


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Your Donations Hard At Work

As many of you know, I am passionate (aka relentless) when it comes to fundraising for Cystic Fibrosis Canada. Through awards and events, we’ve been able to raise almost $250,000 since Sophia was born 4.5 years ago. I often give or arrange talks about where those fundraising dollars go, but I just realized that only a few people really ever get to hear those talks. Maybe I should share some of the exciting breakthroughs here. Maybe my excitement about where research is leading will be contagious? (This is the one time I will use that word with a positive tone).

I’ll give a quick disclaimer here: I am not a researcher. I am not an expert. What I write is based on what I understand to be true. I may be (a little bit) wrong, so please comment and let me know if I’ve misrepresented any ideas.

I’ve mentioned before that cystic fibrosis is genetic. It’s far more complex than that little word implies. There are over 2000 known mutations that lead to cystic fibrosis. They can largely be categorized into one of five different protein (CFTR) malformations. Recently a drug called Kalydeco was approved for use in the USA, Canada, and many other countries. If you are part of the 4% with the protein malformation it targets, it is an incredibly powerful control (not a cure) for cystic fibrosis. In very layperson language, it basically “opens the gate” to allow the protein to pass through and do its magic. Unfortunately Sophia is not in this group. She has 2 copies of deltaF508, which is the most common mutation, and leads to a slightly more complex protein malformation than the one Kalydeco targets. Sophia’s proteins need to be fixed up a little and then let through the gate. There are large-scale studies being done right now looking at the usefulness of Kalydeco combined with another drug. We’re waiting for the final results to be published soon.

Another complicating factor is the presence of modifier genes. These are ‘other’ genes that cause one person with deltaF508 to be quite sick, while another to be relatively well. Again, research is looking at identifying what these modifier genes are, and how we can tailor treatments to each individual with cystic fibrosis.

My bias in outlining only a couple of areas of research is obvious. These are the ones that seem most pertinent to Sophia right now, so I am most interested in them. There are hundreds of other studies funded by Cystic Fibrosis Canada every year. If you are interested, there’s a booklet published yearly on the Cystic Fibrosis Canada website (www.cysticfibrosis.ca).

Some flashy and fun stats to look at (courtesy of Shinerama):

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Journey

Every journey is the same. Every journey is different. There are the good times, the okay times, the rough times

The good times make us smile. Spending time with family, having dance parties, splashing in the water, running full tilt down the hill to the park, chasing big dogs. The okay times are just that- okay. Waiting for kids to wake up, finish their meals, *patiently* waiting for the cold weather to improve. The rough times seem insurmountable in the moment, but end up as little blips in our memories. No TV on the plane to entertain the children, meltdowns over diaper changes, whining voices wearing us down.

To every journey, there’s a beginning and an end. The anticipation of going on an adventure, counting down the sleeps, packing the bags, making lists. The sudden realization that the trip is almost over, the frantic packing, the anticipation of returning to routine, looking forward to your own bed, sadness that you have to leave so soon.

And when it’s all finished, you wish it would start again. Life is a journey in itself.

When you think back on the journeys in your life, are you a pessimist, an optimist, or a realist? Which moments are most salient in your mind? Whenever the bad moments creep into my thoughts (Simon screaming ‘get me out of my seat’ 1 hour into a 4 hour flight), I try to immediately think of something that made me smile (Simon’s never-ending version of counting: 1,2,3,4,5,6,7,8,9,10,11,12,14,8,9,10,11,12,14,8,9,10…).