The Start of My Kalydeco Journey

Guest post by Angie 

On January 31, 2012 the CF community received amazing news.  The FDA approved Kalydeco, the first drug to treat the root cause of CF.  However, Kalydeco is only effective for individuals that have the G551D mutation.  I, like many other DDF508’s, celebrated the wonderful news but was still holding out for the drug that would help the mutations that I had.  That’s right… I said had. 

About a month ago I took my 2 year old son to see a pediatric pulmonologist, because just like his Daddy, he has asthma.  The doctor and I discussed the fact that I had CF and my son’s newborn screen did not come back with any genetic markers for the disease.  He thought this was very strange knowing that my son would automatically be a carrier since I have the disease.  The doctor decided to add a CF mutation panel to the labs he was already ordering for my son. 

Fast forward to one week later and I received an email notification that my son’s test results were available.  I logged on to his EHR (gotta love technology) and saw the CF mutation panel.  I clicked on the result fully expecting to see DF508 since I had been genotyped as a DDF508.  Instead, I got the shock of my life when his test showed G551D.  What?!?!  The only logical conclusion I could come to was that I must have a G551D mutation.  But, that was impossible, right?  I had a cheek swab in the late nineties during an initiative sponsored by the CFF to get everyone’s genotype into the CF portal.  It was after 8pm on a Thursday night, so I couldn’t call any of our physicians.  So, where did I turn?  The CysticLife community.  I posted a rambling question asking if there could be any other logical explanation.  Of course I received lots of wonderful feedback from the CL community.  Everyone drew the same conclusion that I had.

I contacted my clinic the next day and they ordered a CF mutation panel for me.  I had my blood drawn and the waiting began.  I was still trying not to get my hopes up, but I think it was too late.  I received the phone call on a Thursday morning.  I had just sat down at my desk at work and my cell rang.  I recognized the number of my CF clinic.  I answered and the nurse said “I have some wonderful news.”  That was all I needed to hear.  I started blubbering.  I have the G551D mutation!!! I could not believe it.  I cannot even describe what it felt like to hear that news.  I can tell you it ranked right up there with the first moment I looked into the eyes of both my babies.  This news actually allowed me to picture holding my grandbabies.  I started the ball rolling that day to have Kalydeco delivered to my door and begin my new lease on life! 

Thank you for taking the time to read my story.  I can hardly believe it when I read it myself, but I am living it every day and it is wonderful!  I will be posting weekly updates about my progress with Kalydeco.  Please feel free to ask any questions or leave comments through this blog.  I look forward to sharing my journey with you!  

Angie's BIO:
I am a 36 year old married, working mother of two beautiful children. I was diagnosed with CF when I was 7 months old. When I was 6 years old my mom decided to become a respiratory therapist. I grew up with my own private RT!!  I was first hospitalized at age 8 and so began the annual hospitalizations. In my twenties I sometimes averaged two hospitalizations a year, but its pretty much just once a year now. I went through the usual rebellion from my late teens to early twenties. Luckily, I have been able to maintain stable lung functions for over 10 years. My FVC averages around 80-90% pred, and my FEV1 is usually around 63% pred.  

Note from Ronnie: I am so thrilled that Angie has agreed to give weekly updates of her progress on Kalydeco!! Her story is amazing, and I know I for one, am really looking forward to hearing about where this story leads. I can only hope that it's not only to improved lung function, but LIFE function as well!!