Sunday, February 5, 2012

Theres an App for That

Sickness has plagued our family. It started last weekend with me getting a sinus infection. It had me down and out for most of Saturday and Sunday, but by Monday we were back in business. Monday afternoon Drew developed a fever and started coughing quite a bit more than normal. By Wednesday, Ella had a fever as high as 103 at times, and wasn't feeling well. We missed dance on Thursday and school on Friday. Drew saw the doctor on Friday and got some antibiotics for a sinus infection and a steroid to reduce some of the inflammation that was causing some of his coughing. Both Ella & Drew's fevers would go down with Tylenol, but they were just hanging on for days and days. Saturday morning, Lily woke up barking like a seal and I knew that a croup diagnosis was in our future. I took Ella & Lily to the doc Saturday morning. The gave Lily a steroid for croup, and thought that since Ella's fever wasn't getting much above 100 anymore that she just had a virus that needed to work its way out. Saturday was a rough day, with everyone on some kind of medication and overall just whiny and tired. Saturday night Ella came in around 1:30 am with a fever of 103.5. The doctor had told us that if her fever went back up that we would need to go back in. She had some Tylenol and went back to bed. She woke up this morning with another 103 fever so we called the doc again. This morning when they saw us, they heard some crackling and told us it was pneumonia. Poor girl is so darn sick, just laying around and sleeping and crying inbetween doses of Tylenol, Ibuprofen and an antibiotic. Her fever was really high all day today, and I'm hoping that the two doses of antibiotics she got today will start to fight this and that tomorrow she will start feeling better. I am drained. I'm not convinced we are in the clear yet, but let it be known that I am ready to be.

So when I went to the Pulmonary doc with Drew on Friday, I was talking to his doctor for a few minutes about the approval of Kalydeco. Anyone whose been reading this blog with any frequency knows of my hope for this drug to work for him. Since it was just approved on Jan.31, it was my first opportunity to talk realistically about the possibility of getting him on it. She said that she really didn't expect that it would work for him because his mutations we're "gating" mutations. Wait, what? I thought that R560T was a Class 3 mutation, just like G551D which was tested with Kalydeco and showed remarkable results. She said that she had an app from Vertex Pharmaceuticals that allows you to look up mutations and learn a little bit more about what class they fall into and what kind of problems they cause. HELLO! (The iPhone app is called CF Gene, for anyone who cares). So she pulls up R560T and it shows it as a Class 4 or 5 mutation, just like F508del. This is contrary to everything I've ever read or seen about his R560T mutation, and I told her that. The great thing about our CF doctors is that they want to work with you and learn and grow in their understanding with you. It has never been, for us anyway, a I'm the doctor so I'm right kind of relationship. So she asked me to send her what I had seen about R560T being a class 3 mutation that could benefit from the new drug. I was able to send her several articles, including some from the National Institute of Health and other medical papers from renown research hospitals. She emailed me back today saying this:
There seems to be conflicting information because I see where they call R560T a class 3 mutation and another place where they refer to a gating defect, but I also found an article where they stained the R560T region and did not find the protein on the cell surface. This suggests that it is a class 4 or 5 mutation. I'll check with Dr. Clancy to see if he knows which source is most reliable. I know you will be disappointed if Kalydeco does not work for Drew. I think Kalydeco is just the tip of the iceburg. We are getting closer to having drugs for other mutations and Kalydeco's success will help push research for other drugs along.
We didn't know if Kalydeco would actually work for Drew or not anyway, and she's right that I will be disappointed if it doesn't work for him, but I'm really curious now to see what class his mutation falls into. I hope that the app is wrong and I am right
because I like to be right because I'd love to have a "gating" mutation that might benefit from a drug that is now available. If it turns out that its not, the drug that targets Drew's other mutation, VX809, is expected to be available to patients within the next 18mo. So I guess we just have to wait and see. Even if it happens that I am correct and Drew does have a gating mutation, we will have to get into a research study that tests the drug on gating mutations other than the one it was approved for because right now its only available to a small, select group of CF patients. Fingers are crossed :)

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