Last week I had my follow-up bloodwork with the RE to check my TSH levels. I had been on Synthroid for three weeks. The nurse called and said, "Everything was normal except for your thyroid!" which made me LOL a bit because the only thing I was having tested was my thyroid. I forgot to ask what the numbers where, but my RE wants me to stay on the same dose of Synthroid for two more weeks and then get re-checked. I'm glad we went to the RE early, because I have been hit by the baby rabies and am so anxious to start TTC!
Everything went well at my clinic visit on Thursday. I had a long talk with my doctor about a bunch of different things.
The most important subject, of course, was Kalydeco. He was very surprised when I told him that my insurance says they will cover it off-label, and he seemed a bit hesitant to prescribe it for me because of the cost, but he also said, "I don't want to be the road block to you getting it." So he said he would call Vertex and see if he could get the in vitro data. However, he also felt that, even though Kalydeco is a Pregnancy Category B drug, he didn't think the benefit was the worth the risk of me being the first pregnant human to take it. Maybe if my lung health were worse, he would have felt differently...I'm not sure. But I realized, the second he said that, it was was answer I wanted to hear because I was nervous about taking it while pregnant. So now it's time to get knocked up! ;) I am still looking forward to hearing back from him about the in vitro info, though!
I also asked him about taking Pulmozyme twice a day, either as a regular course of treatment or while sick, because I had read some research that said it may be a good idea for people with mild lung disease. He said there was no benefit. I also asked when I should take pulmozyme. He said the time of day didn't matter much to him, as long as I did it at some point during the day. In addition, I asked if I should leave some time between hypertonic saline and Pulmozyme. He said there was some in vitro data that suggested hypertonic saline might interact with pulmozyme, but there was no concrete evidence that this was necessary. Because I have the luxury, I am going to play around with when I take my Pulmozyme to see if it makes a difference for me.
I also asked if he thought my CF was asymptomatic. I asked this question because I recently requested my records from the CF clinic I attended until I was 22. I was surprised to read in the records that they considered me "completely asymptomatic"....despite my having repeated episodes of bronchitis, culturing Staph and H. Influenzae, and even having one bought of pneumonia that put me in ICU. My (current) CF doctor said that he did think I had symptoms of CF, but that my manifestations are primarily sinus related. The is good news to me, because hopefully it means that my lungs will still be in good shape by the time I am able to take the exciting new CF drugs.
And speaking of sinuses, he thought I had a sinus infection (after I told him I started having night sweats, feeling run down, coughing more, and having congestion after cedar season kicked in here in Austin...which was six weeks ago!) So he prescribed two weeks of Cipro. He also wants to talk to me ENT about putting me on an antibiotic that I could nebulize through my sinuses. Yay for more nebs! (said with sarcasm)
The other thing I asked about was Azithromycin and the study that showed it may increase the risk of culturing MAC. My doctor said that the CF Foundation is looking into that, but at current time, the proof is still questionable and he thinks the potential benefits outweigh the risks. So I'm going to keep taking it.
So that's pretty much all of it! My FEV1 was 115% - down 3% since last visit, but still 2% higher than it had been for the past two years. Hopefully the cipro will make me feel better!
The CF world has been exciting since my last post! I'm sure all CFers (and many non-CFers) know that a few weeks ago the FDA approved a revolutionary CF drug, Kalydeco. I saw one news story say that Kalydeco was "to CF what insulin is to a diabetic." AMAZING. It may be very close to a cure for some people with CF. The stories of people getting their prescriptions filled is so freaking awesome - tears of joy, even from the pharmacists! One parent even videotaped their son taking his first pill :)
The downside is that Kalydeco is only approved for some people with CF, people with the G551D mutation who are six and older. Clinical trials have shown that the drug is a miracle for these people, but that it is not for people who have the most common mutation. Thankfully, there are two drugs in the pipeline that are addressing the most common mutation. So there is so much hope in the CF world right now!
So, now for what I have been doing - researching, researching, and more researching. I have the R117H gene, and the moment I saw the phrase that Kalydeco is a potentiator of the R117H mutation, I started trying to learn everything I could about how the drug might work on my mutation. Might this be a cure for my CF??? Might this stop the night sweats, the coughing, the post nasal drip, the days where I just feel like crap, the pulmonary episodes, the sinus infections, etc.? Might this mean that I no longer have to worry: "Will I meet my grandchildren?" "When am I going to start needing regular hospitalizations, and how will that affect my family?" "Should I bother to save for retirement?"
Based on everything I have read, I think I have a lot of reason to have hope. And last week, I almost died of shock and excitement when I learned two things: Kalydeco is a pregnancy category B drug! This means I could potentially take it during pregnancy and nursing and not worry so much about getting sick. AND, my insurance claims they will cover it off label! I especially could not believe the second one, considering the medication costs $294,000 per year. Holy.freaking.cow.
So now to the next step - asking my doctor for his help. I have gathered all of my research, printed it and done some highlighting, and this is what it boils down to:
-The cause of CF is that certain ions are not processed correctly in cells. One of the problems is with an ion channel, which Kalydeco addresses. It is the first drug that directly fixes the CAUSE of CF, not just the symptoms of thick sticky mucus, inflammation, infection, digestive issues, etc.
-Kalydeco increases channel gating. This is why it works so well for people with the G551D mutation - the whole thing that causes their CF is defective channel gating. In CF, there are five classes of mutations, and G551D is in what they call a Class III, or "gating" mutation.
-In vitro studies have shown that Kalydeco also increases channel gating in many other gating mutations. These studies have been published. Based on these studies alone, the pharmaceutical company (Vertex) is requesting that Kalydeco be approved for ALL gating mutations in Europe. If I had one of these gating mutations, I'd probably be knocking down my doctor's door trying to get it off label.
-My mutation, R117H, is classified as a "Conductance Mutation." HOWEVER, I've read two sources that say the primary problem with my mutation is actually channel gating, not conductance (although there is reduced conductance).
-The in-vitro data for R117H has not been published. But it is good enough that Vertex announced they are going to begin clinical trials for my mutation this year (I whooped like I was watching football when I read that announcement!). I do not qualify for the trials because my lung function is too high.
-I know someone who has a contact at Vertex, and they sent this in an email:
"The answer to that question is that Vertex has not yet tested the effect of Kalydeco in people with the R117H genotype. However, based on testing on airway epithelial cells from patients with that genotype, we believe that Kalydeco could have a similar effect to that seen in individuals with the G551D genotype. We hope to study the effect of Kalydeco on individuals with this and other genotypes in the near future."
I called Vertex and asked about the in vitro results for R117H. They said my doctor would have to call for that information. I am planning to ask him to call, and if the results are similar to those for the gating mutations, I am hoping he will consider prescribing it off-label. I am very excited and nervous for the appointment, because I have dying to get ahold of the in vitro results for almost a year.
Of course, the other big "if" is if my insurance will cover it. They said they would, and I asked for a letter stating this. We'll see if I get it. But I do have hope because I already know of two people who have gotten it off-label based on age (they have the G551D gene but are younger than six).
My blog definitely contains a bit "TMI" (Too Much Information) at times. But I really wanted to be very open about my journey, and I am a very open person. (And yes, people do sometimes say “Thanks for Sharing” to me in real life :) If you don’t want to read about "womanly" issues, you probably doesn't want to venture any further into my blog! ;)
I am 39 years old with cystic fibrosis. For the CFers who may be interested, my FEV1 is 115%, my genotype is dF508/R117H, and I am pancreatic sufficient. The primary way CF impacts me is chronic sinusitis and repeated bronchitis and mild pneumonia. My sputum cultures show pseudomonas aeruginosa(PA). I have only been hospitalized twice. I have been on Kalydeco since February 2015.
My husband, Greg, and I have two daughters: Lily, age 5, and Grace age 3.
I started this blog to share our journey towards conceiving our first child, and to share the information we learned along the way in case it may help other women with CF. During our struggle with infertility, this blog was a wonderful way for me to connect with other women who were dealing with similar struggles.
I now write this blog to share my life as a mom with CF! It has been an amazing journey!
2WW = Two Week Wait (the time from ovulation to menses) AF = Aunt Flo BFN = Big Fat Negative (regarding a pregnancy test) BFP = Big Fat Positive (regarding a pregnancy test) CBEFM = Clear Blue Easy Fertility Monitor CF= Cystic Fibrosis CM = Cervical Mucus CP = Cervical Position ENT = Ear Nose Throat Doctor EWCM = Egg White Cervical Mucus IUI = Intrauterine Insemination KU = Knocked Up LP = Luteal Phase O = Ovulate OPKs = Ovulation Prediction Kits OB/GYN = Obstetrician/Gynecologist PCP = Primary Care Physician PG = Pregnant RE = Reproductive Endocrinologist TTC = Trying to Conceive