Approved for New Cystic Fibrosis Medication!

I just wanted to share that I just got approved for the new Cystic Fibrosis drug that treats the root cause of the genetic defect of my mutation!!!

While taken, Orkambi corrects the defect that prevents the flow of salt and water from passing through cells properly, which creates the thick, sticky mucus in all of my organs, especially the lungs and digestive system. It is for CF patients with the mutation Delta f508, of which I carry two copies. It is also the most common mutation, and responsible for disease in most of my major organs.

While not a cure, this drug can potentially decrease the frequency and severity of complications, thus leading to a better quality of life. There are no guarantees, and there are side effects, but this is a HUGE chance for me – for us. My husband and I are excited and nervous that Orkambi will provide at least some benefits to increase quality of life.

I hope to share the process here. I see my doctors on Monday and hope to begin the medication in next week or so. If you’re interested in following my story, please subscribe for updates and you’ll be notified whenever I publish a new post.

Orkambi – Rejection, Appeal, and Life in Between

Here’s my first update since/about Orkambi, the new medication designed to improve the quality of life for a large percentage of Cystic Fibrosis patients.

My CF clinic sent the prescription to my Health Insurance provider, but they have rejected the pills based on need for proof that I…

A. Have CF,

B. Have the correct CF mutations,

C. The doctor prescribing the Orkambi is a CF specialist.

In the past two and a half weeks, there have been at least 10 phone calls and emails trying to move this process along. While I was on the fence in the beginning, unsure that I would take Orkambi, after getting sick again, and my doctor threatening to put me in the hospital a month ago, I started praying that I would be able to do everything possible to get approved.

I got through that exacerbation with 2 oral antibiotics. I was happy. I also saw my CF clinic and had my lung function tested – it was high enough that when I (presumably) started Orkambi ASAP, any side effects would be obvious, because I wasn’t sick at the time.

Now, as I watch my email inbox, make phone calls, and stalk my postman, I feel more and more that I want…I need…Orkambi.

But Wait, There’s More

I started to get sick again.

  • Productive nighttime cough
  • Fevers
  • Difficulty keeping up my oxygen saturation (I have no oxygen at home.) When asleep and after physically exertion, my oxygen saturation levels have dropped.
  • Walking up the stairs takes twice as long.

Now… It’s not emergent – I am not in respiratory distress, but they if they stay below 90 for any period of time, I will neeed oxygen.

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If my symptoms collectively worsen, I will have to call my clinic and most likely will be placed in the hospital.

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My fevers are relatively low, but still bothersome – and make me feel achy and tired!

Please pray, cross your fingers, or send your positive thoughts out into the universe that I have the courage and patience to do what I have to do should I go in the hospital, that my doctors have the wisdom make the best decisions possible, and that while I continue to fight for Orkambi, I will continue to hear all about all of the other CF patients who are taking the closest thing to gold we’ve ever had.

Until then….tell me about your Orkambi adventures, good and bad!!

The Road to Orkambi

You may have heard that there is a new medication for people with a certain gene mutation of Cystic Fibrosis.

The FDA has approved a new drug that treats patients with two copies of the most common gene mutation, Delta f508. Forty-five percent of CF patients fit this profile.

The Basics of the Cystic Fibrosis Gene Mutation

Each of the more than 1,500 known mutations affects protein responsible for the proper transport of salt and water through each cell, creating a thick, sticky mucus that clogs the lungs and digestive system. Each of those mutations in the CFTR (transmembrane conductance regulator) protein has a different faulty mechanism.

Think of the protein as an electronic garage door. Consider some ways in which the door can malfunction: Continue reading

The Price of a Few Months’ “Life”

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As if my body somehow can read a calendar, I am back in the hospital. I have been averaging an inpatient stay for IV antibiotics every six months or so, and I was last inpatient in December, so it’s about … Continue reading

And After the Rain, Sun-filled Adventures

Sisters at the beach

I’m still sick – it’s been about 2 1/2 months now, and am nearing the time when we need to decide as to whether we need to escalate or not. Like the saying goes, “April showers” and all that jazz… I guess … Continue reading