Allison Staley
New member
............
Delta F508 & R117H 5T
- Thread starter Allison Staley
- Start date
Aboveallislove
Super Moderator
Dear Allison,
Welcome! I am so sorry to hear of your diagnosis, BUT now that you have it, you will be so much healthier....now and in the future. At the same time I can only imagine at 18 what it must feel like to be diagnosed with CF and then reading all the horror stories and fearing that is your destiny. CF is unique and everyone's manifests differently. There are several on this forum in the 60, 70, etc. And that you are just being diagnosed now shows that it hasn't affected you too severely, but over time things can worsen, so it is important to keep up with the treatments now to prevent that from happening. That said, you are one of the "lucky" ones with the R117H because the mutation can be partially fixed by a drug called Kalydeco which the FDA just recently approved for us in your mutation. The following link gives you info on that.
http://investors.vrtx.com/releasedetail.cfm?ReleaseID=889027
But it gets better: There is a second drug when added to Kalydeco fixes the CFTR function even better and Vertex is starting a trial this year for those with R117H + df508.
So the long and short is that you have every reason to believe you will live a long, healthy and happy life with all the dreams you had possible. You need to take care of yourself in ways other 18 year olds don't, but
you have the hope of everything. Also, doctors have figured out how to "splice" out a mutation in the DNA (or RNA?) strand and insert a "good" gene. This is very very early research, but by the time your 30, you well could have "normal" DNA!
These two links tell you about how R117H 5T seems to affect folks with df508:
http://www.cftr2.org/r117h.php
http://www.cftr2.org/mutation.php?view=general&mutation_id=6
Finally, if you are in the US, you should immediately call and ask the doctor for a script for Kalydeco. I am not sure the status of Kalydeco in other countries. Also, I am not sure why you aren't on any other inhaled meds, such as a bronchialdialtor and Pulmozyme (instead of Mucinex!!), at a minimum. Maybe the doctors didn't want to overwhelm you, but I'd ask about the treatments more next time!
Good luck Allison and let me know if you have any questions!
Love
Welcome! I am so sorry to hear of your diagnosis, BUT now that you have it, you will be so much healthier....now and in the future. At the same time I can only imagine at 18 what it must feel like to be diagnosed with CF and then reading all the horror stories and fearing that is your destiny. CF is unique and everyone's manifests differently. There are several on this forum in the 60, 70, etc. And that you are just being diagnosed now shows that it hasn't affected you too severely, but over time things can worsen, so it is important to keep up with the treatments now to prevent that from happening. That said, you are one of the "lucky" ones with the R117H because the mutation can be partially fixed by a drug called Kalydeco which the FDA just recently approved for us in your mutation. The following link gives you info on that.
http://investors.vrtx.com/releasedetail.cfm?ReleaseID=889027
But it gets better: There is a second drug when added to Kalydeco fixes the CFTR function even better and Vertex is starting a trial this year for those with R117H + df508.
So the long and short is that you have every reason to believe you will live a long, healthy and happy life with all the dreams you had possible. You need to take care of yourself in ways other 18 year olds don't, but
you have the hope of everything. Also, doctors have figured out how to "splice" out a mutation in the DNA (or RNA?) strand and insert a "good" gene. This is very very early research, but by the time your 30, you well could have "normal" DNA!
These two links tell you about how R117H 5T seems to affect folks with df508:
http://www.cftr2.org/r117h.php
http://www.cftr2.org/mutation.php?view=general&mutation_id=6
Finally, if you are in the US, you should immediately call and ask the doctor for a script for Kalydeco. I am not sure the status of Kalydeco in other countries. Also, I am not sure why you aren't on any other inhaled meds, such as a bronchialdialtor and Pulmozyme (instead of Mucinex!!), at a minimum. Maybe the doctors didn't want to overwhelm you, but I'd ask about the treatments more next time!
Good luck Allison and let me know if you have any questions!
Love
D
Deb
Guest
Hi Allison and welcome.
I will be 55 in May and I too have DF508 and R117H. As mentioned above, don't let the internet scare you too much. Things have greatly improved and are continuing to do so. I was fortunate enough to be in the original study for Kalydeco and R117H. Just last week my insurance approved this medication for me. I can tell you that this is a HUGE step in maintaining health. Even so it is not yet a cure. Even though I have been on the medication I still continue to use my vest daily and do all of my meds. I use a Proventil inhaler and do nebulized Pulmozyme and Cayston. I also began an intense exercise program almost 4 years ago and it has made such a drastic change in my health. I encourage you to stay as active as possible, do your meds regularly and try to get on Kalydeco right away. Your future is bright.
Feel free to contact me directly if you would like more info. I remember how scared I was when I was diagnosed at 24.
deedrich.debbie@gmail.com
I will be 55 in May and I too have DF508 and R117H. As mentioned above, don't let the internet scare you too much. Things have greatly improved and are continuing to do so. I was fortunate enough to be in the original study for Kalydeco and R117H. Just last week my insurance approved this medication for me. I can tell you that this is a HUGE step in maintaining health. Even so it is not yet a cure. Even though I have been on the medication I still continue to use my vest daily and do all of my meds. I use a Proventil inhaler and do nebulized Pulmozyme and Cayston. I also began an intense exercise program almost 4 years ago and it has made such a drastic change in my health. I encourage you to stay as active as possible, do your meds regularly and try to get on Kalydeco right away. Your future is bright.
Feel free to contact me directly if you would like more info. I remember how scared I was when I was diagnosed at 24.
deedrich.debbie@gmail.com
Allison,
Your thread is not visible to me so I hope you did not delete it. My daughter Alison was diagnosed with the same genetic combination just about a year ago. She is 13 years old now. As the two wise women stated above, beware what you find on the internet. My doctor told us that CFF.org and the Boomer Esiason web pages were just about the only ones we should look at so we don't get confused by other information. I had also joined a Facebook group for CF and it was one of the most toxic places I have ever been so in the beginning I would stay away, but bear in mind that is just my opinion. I have noticed that most posters on this forum are friendly and I find interesting advice on it to help my daughter. I hope you do too.
Your thread is not visible to me so I hope you did not delete it. My daughter Alison was diagnosed with the same genetic combination just about a year ago. She is 13 years old now. As the two wise women stated above, beware what you find on the internet. My doctor told us that CFF.org and the Boomer Esiason web pages were just about the only ones we should look at so we don't get confused by other information. I had also joined a Facebook group for CF and it was one of the most toxic places I have ever been so in the beginning I would stay away, but bear in mind that is just my opinion. I have noticed that most posters on this forum are friendly and I find interesting advice on it to help my daughter. I hope you do too.
Aboveallislove
Super Moderator
Leecee,
Is your daughter on kalydeco yet? I'm hoping the her doctor is moving quickly on it! And hoping she is doing well.
Is your daughter on kalydeco yet? I'm hoping the her doctor is moving quickly on it! And hoping she is doing well.
Aboveall,
I emailed her doctor about Kalydeco in January and she said she recommended it for my daughter to the other CF doctors. She mentioned that Tricare (insurance) approved it for someone else so we should not have any problems but have not heard from her doctor since that time. My daughters next appointment is next month so if we don't hear from them before, we will take the up the issue at the appointment. Thank you for asking!
rcwebster-Kalydeco is the new treatment for certain CF genes. R117H is one of those genes that the treatment is for. There are a number of others but I do not recall them at this time. My daughter has no issues with the digestive end of CF. In fact, we had no idea she had CF until a little over a year ago and she is 13. We were initially told she had allergies and it wasn't until I took her to an allergist and found out that she has zero allergies that I worked towards finding the cause of her being "sick" all of the time. I am under the impression that if your daughter has no symptoms for digestive issues, that at this point she will not. Please note that I am not a doctor but that is what they told us at our last visit regarding my daughter's case.
When I said "sick all the time" I was referring to her always having a runny nose and a wet cough. She also had constant ear infections. We were always under the impression she had allergies because a doctor told us that must be what it is but when Zyrtec and Nasonex did not work, her doctors would say "oh this is a tough year for kids with allergies". We eventually had to get her tubes in her ears and the ENT doctor told me that she had thick mucus in her ears. Knowing what I know now that should have been a red flag but my thought was that the ear tubes would help clear her ears out. I had one doctor tell me that an allergy test would be useless because I cannot get rid of all the allergens anyway so knowing what her allergies were, would not be worth it. Fast forward a few years and I ask for an allergy test from another doctor and we find out she has no allergies. So now they wanted to know why she is always coughing and we met with a pulmonologist and found out later that she has bronchiostatasis (i know i spelled that wrong) and CF.
Sorry about the diatribe!
Sorry about the diatribe!