kittenface
Member
I'm a 47 year old female that was diagnosed with CF at age 38. Anyone with same gene combo?? How are you doing?
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D508/R117 mutations
- Thread starter kittenface
- Start date
I have those mutations. I was diagnosed at six months due to salty tasting skin, but I didn't show symptoms until I was older. I'm doing pretty well. I get recurrent sinus infections and bronchitis, but new treatments have helped with that. I had a CT scan done last year that showed some mild bronchiectasis my right upper lobe, and my doctor thought it was probably from a collapsed lung I had when I was 12. I'm 35 and my FEV1 was 119% at my last clinic visit.
And ditto Jenny - have you looked into Kalydeco? It's supposed to work for our mutation, although it's still undergoing clinical trials, so some insurance won't pay for it yet.
And ditto Jenny - have you looked into Kalydeco? It's supposed to work for our mutation, although it's still undergoing clinical trials, so some insurance won't pay for it yet.
kittenface
Member
I haven't heard of Kalydeco before. I have had bronchitis and pneumonia since I was a child. I was extremely underweight as a child to young adult. I had a bowel blockage 4 years ago and I believe it was linked to my appendectomy surgery. I've done research and when CF patients have anesthetic it can cause havoc on the digestive system. I don't take any medications other than my puffers when I have pneumonia or asthma or the odd sinus infection. What seems to be worrying me lately is my bm - I'm having a lot of issues with my bowels since February/March. I travelled to Cuba and thought perhaps I caught a bug or something.... I also have been noticing that my hands and feet prune up really easily - much faster than in the past when I'm in water. Even if I have a 5 minute shower. Again this is linked to CF. Can you tell me what FEV1 is? I had my lung function testing done 3 years ago and it went down 7%. This year it improved probably since I had been taking better care of myself and trying to do some cardio. I live in Canada and have a great drug plan. What is Kalydeco? Do you take it? I have 2 children 9 and 5 - both girls. My husband was tested and he isn't a carrier so our girls are fine. I also had no problem conceiving even though I didn't start until late. Had my first at 38 and 2nd at 42. Thank you for sharing all of your info.
kittenface
Member
Hi Jenny
I haven't heard of this drug. I'll google it. What is it used for?
Thank you for your message.
Lori
I haven't heard of this drug. I'll google it. What is it used for?
Thank you for your message.
Lori
G
gunelle
Guest
Hi, I have this mutation, R117 as well. I recognize the pruning of the hands that you mention. I suffer from this, as I tend to sweat a lot in my palms. In summer time it's even more prominent, and I am bothered by it. I put deodorant on my palms after showering (a tip I think I read on here), and that helps. Now I am not so sore when finished showering. I do not have problmes with BM. I maintain a very(!) stable weight, and have never had problems in that area. I have bilateral bronchiectasis, which is what mostly affects me. Also I have sinus issues from time to time, but not as severe as others. I have had my infections but lately it's been ok (knock on wood).
I am surprised that you only take puffers for medication. Are you seeing a CF specialist? I take sodium saline, pulmozyne and an antibiotic called promixin. I take these in nebulizers. Also I do physical theraphy.
In summer, due to the extreme heat in Madrid, I increase my salt intake and on occasion take urbason.
Due you work full time? How do you manage that with two girls? Please can you share your experience?
My fev1. is around 80, sometiems more sometimes less. I have read some about kalydecho, and plan to ask my pulmo come my next visit.
I am surprised that you only take puffers for medication. Are you seeing a CF specialist? I take sodium saline, pulmozyne and an antibiotic called promixin. I take these in nebulizers. Also I do physical theraphy.
In summer, due to the extreme heat in Madrid, I increase my salt intake and on occasion take urbason.
Due you work full time? How do you manage that with two girls? Please can you share your experience?
My fev1. is around 80, sometiems more sometimes less. I have read some about kalydecho, and plan to ask my pulmo come my next visit.
G
gunelle
Guest
Hi again, I think you should move this topic to the "adult" section, where I think it will get more response <img src="i/expressions/face-icon-small-smile.gif" border="0">
Kristen...Kalydeco is amazing!! Some are calling it an almost cure! Yes my daughter is on this even though she does not have the proper mutations. You definitely need to get a hold of marcij, which I think you did on another thread. She is having amazing results and she has your mutation! If there is any advice I can give you it is try it!! you too gunelle. I hope you do google it, and also read Marci's blog: http://marcicfblog.blogspot.com/
I think you will be amazed! Good luck
I think you will be amazed! Good luck
Kittenface, ditto that you need to find a CF center. You should be getting a lung function test every three months. There are many CF meds available that should improve your quality of life AND your life expectancy! FEV1 is one type of measurement of lung function. Kalydeco is a new CF drug that was approved by the FDA in the US this year. I don't think it is available in Canada yet. However, they are begining clinical trials of this drug on people with the R117H mutation, and that may include people in Canada. I would highly recommend looking into it! http://clinicaltrials.gov/ct2/show/NCT01614457
Seriously, I recommend finding a CF center and calling them TODAY!
BTW, I am not taking Kalydeco because I'm pregnant, but I hope to start next year!
Seriously, I recommend finding a CF center and calling them TODAY!
BTW, I am not taking Kalydeco because I'm pregnant, but I hope to start next year!
D
Deb
Guest
I have the same mutations. I am 52 and doing well (all things considered) Exercise is the key! Feel free to friend me on Facebook...I don't get on here a lot.
LittleLab4CF
Super Moderator
We all have special areas of talent, expertice and interest. By necessity CFers must be, or become experts. I admit that cystic fibrosis has ists own acronyms like FEV1, MRSA, CFRD, PI, Pa (not PA), etc. Even CFers who obsessively study the disorder go on the hunt to decypher some uncommon terms. In a post a while back, somebody had "abscess M" actually meaning abscessus M assuming I spelled it correctly. I had an appointment with my CF Pulmo, when I asked about it, both my nurse and my doctor shrugged and the exam continued. Later the nurse popped her head in the exam room and noted what it is.
The bottom line is you have to become an informed person even expert in CF. Why? In order to advocate for yourself, understand problems early on for treatment. CF falls in a catagory known as chronic wasting disorders. People with CF used to be outlived by diabetics, before Fredrick Banting and his team isolated the pancreatic juice from a cell group producing insulin. Today diabetics can live lives near normal with insulin. Prior to insulin nobody with Juvinile diabetes lived beyond puberty.
At this point I join in strongly suggesting you waste no time making an appointment at an accredited CF center. Go to Wikipedias description of cystic fibrosis. I think the CF Foundation contributed the body of information Wiki uses. Read it completely touching on any colorerd term you don't completely understand. If you wade through this before your CF Center appointment, more time can be spent on topics you now know enough to need clarity. When you take a deep breath and blow hard to fully empty your lungs completely into what is loosely referred to as a spirometer, the Forced expressed (air) volume Fev is meaasured. I can only guess the 1 is a simple test. A similar test except you are sealed in a chamber measures your Fev1 and measures your body volume displacement increase as you inhale and exhale. Maybe this spirometer/volumeter has a different number associated with it like maybe FEV2?
The bottom line is you have to become an informed person even expert in CF. Why? In order to advocate for yourself, understand problems early on for treatment. CF falls in a catagory known as chronic wasting disorders. People with CF used to be outlived by diabetics, before Fredrick Banting and his team isolated the pancreatic juice from a cell group producing insulin. Today diabetics can live lives near normal with insulin. Prior to insulin nobody with Juvinile diabetes lived beyond puberty.
At this point I join in strongly suggesting you waste no time making an appointment at an accredited CF center. Go to Wikipedias description of cystic fibrosis. I think the CF Foundation contributed the body of information Wiki uses. Read it completely touching on any colorerd term you don't completely understand. If you wade through this before your CF Center appointment, more time can be spent on topics you now know enough to need clarity. When you take a deep breath and blow hard to fully empty your lungs completely into what is loosely referred to as a spirometer, the Forced expressed (air) volume Fev is meaasured. I can only guess the 1 is a simple test. A similar test except you are sealed in a chamber measures your Fev1 and measures your body volume displacement increase as you inhale and exhale. Maybe this spirometer/volumeter has a different number associated with it like maybe FEV2?
kittenface
Member
Well first of all thank you for all of your responses. I appreciate your comments and advice. I haven't been able to really focus on my health since I'm in the situation of being in a sandwich era of my life. I have elderly parents and 2 small children. I also have a career etc. I do have a CF specialist. I had not heard of this new drug since I haven't been up to date with my health issues. I live in Canada I understand it's not yet available here. My lung function was normal until 3 years ago and it dropped slightly. I decided to join the forum to see if other people with my same "mild CF" gene combination were experiencing health problems. I've noticed that my health has been declining and will be contacting my CF specialist for an appointment. I have great health coverage and insurance through my company. Again, thank you for your messages.
I am surprised your CF specialist is not having you come in every three months. Is he/she associated with an accredited CF center?
However, I will add I have always had "mild CF" and have always been seen at an accredited CF center. Even they treated me similarly to the way you have been treated - that I was "too healthy" too need more than an inhaler and some antibiotics when I got sick. Then I joined some of these online CF forums and learned so much about CF, and how it is progressive, even if you are considered "mild." Eventually, CF will catch up with you, cause your lungs to decline, you will be in and out of the hospital more and more, etc (I mean the collective "you" not "you" personally kittenface). It just make take longer for those of us with "mild" CF. So I started asking my doctors about things like the vest and hypertonic saline. And, once I started hypertonic saline, I got bronchitis less often. After I had my daughter, I realized how much I want to stay healthy for her for a long time (I want to meet my grandchildren) and I got more aggressive with my treatment and asked my doctor why I wasn't on pulmozyme. And I started allergy shots. Both those things are helping even more.
Anyway, I just wanted to share this, because it's so important to learn everything you can about CF so you can be your own advocate. It will have a significant impact on your health. And I feel like this is especially important for us "mild" CFers because it seems like some doctors act like they don't have to worry about us. Adding nebs into your routine will be a pain in the butt, I'm not gonna lie. Especially with everything you have going on, but there are ways to make it easier (when I used to work, I had an adaptor so I could do them in the car on the way to work). And, I try to remember it's either spend time doing nebs now, or spend time in the hospital (or on disability, or feel like crap all the time, etc) later.
However, I will add I have always had "mild CF" and have always been seen at an accredited CF center. Even they treated me similarly to the way you have been treated - that I was "too healthy" too need more than an inhaler and some antibiotics when I got sick. Then I joined some of these online CF forums and learned so much about CF, and how it is progressive, even if you are considered "mild." Eventually, CF will catch up with you, cause your lungs to decline, you will be in and out of the hospital more and more, etc (I mean the collective "you" not "you" personally kittenface). It just make take longer for those of us with "mild" CF. So I started asking my doctors about things like the vest and hypertonic saline. And, once I started hypertonic saline, I got bronchitis less often. After I had my daughter, I realized how much I want to stay healthy for her for a long time (I want to meet my grandchildren) and I got more aggressive with my treatment and asked my doctor why I wasn't on pulmozyme. And I started allergy shots. Both those things are helping even more.
Anyway, I just wanted to share this, because it's so important to learn everything you can about CF so you can be your own advocate. It will have a significant impact on your health. And I feel like this is especially important for us "mild" CFers because it seems like some doctors act like they don't have to worry about us. Adding nebs into your routine will be a pain in the butt, I'm not gonna lie. Especially with everything you have going on, but there are ways to make it easier (when I used to work, I had an adaptor so I could do them in the car on the way to work). And, I try to remember it's either spend time doing nebs now, or spend time in the hospital (or on disability, or feel like crap all the time, etc) later.
Kittenface:
You are not the only person out here with two elderly parents, two or more kids and a career. Like the rest of us you have CF.
If you are concerned about your parents and your kids, your first order of business is to maintain your own health. You had your lung function tested three years ago.. your lung function should be tested every three months.
I dont care what "CF Specialist" that you are seeing, YOU ARE NOT EVEN CLOSE TO GETTING THE MINIMAL CARE REQUIRED FOR A CF PATIENT.
You can continue to fool yourself to thinking that your excuse is valid. Everyone here has told you that is wrong.
Get in contact with an APPROVED CF CLINIC and see an CF SPECIALIST at that hospital. Your life depends upon it.
Bill
You are not the only person out here with two elderly parents, two or more kids and a career. Like the rest of us you have CF.
If you are concerned about your parents and your kids, your first order of business is to maintain your own health. You had your lung function tested three years ago.. your lung function should be tested every three months.
I dont care what "CF Specialist" that you are seeing, YOU ARE NOT EVEN CLOSE TO GETTING THE MINIMAL CARE REQUIRED FOR A CF PATIENT.
You can continue to fool yourself to thinking that your excuse is valid. Everyone here has told you that is wrong.
Get in contact with an APPROVED CF CLINIC and see an CF SPECIALIST at that hospital. Your life depends upon it.
Bill
M
marcijo
Guest
Kristen-I could have written your last post-word for word! <img src="i/expressions/face-icon-small-smile.gif" border="0">
Hi Kittenface-I am the one JennyC was talking about. I started Kalydeco a few months ago and it has been a miracle drug for me! I would check into the trials if you are able. Also-I agree with the others - you need to be seen by an accredited CF center ASAP. Your health is important-if you are sick, how are you supposed to take care of your children and your parents?
CF eventually will catch up with you. Like Kristen, I was pretty much told that I was "mild" and that I was pretty healthy for a CFer my age. Since then-I have increased my lung function a great deal by being pro-active! Also-I asked my doctor for Kalydeco-I don't think if I had not asked him that I would not be on it. It WORKS amazingly on our mutation-it is truly a miracle!
I'm not sure if someone posted this already - but here is a link to accredited CF centers/doctors in Canada: http://www.cysticfibrosis.ca/en/treatment/FindaCFClinic.php
Hi Kittenface-I am the one JennyC was talking about. I started Kalydeco a few months ago and it has been a miracle drug for me! I would check into the trials if you are able. Also-I agree with the others - you need to be seen by an accredited CF center ASAP. Your health is important-if you are sick, how are you supposed to take care of your children and your parents?
CF eventually will catch up with you. Like Kristen, I was pretty much told that I was "mild" and that I was pretty healthy for a CFer my age. Since then-I have increased my lung function a great deal by being pro-active! Also-I asked my doctor for Kalydeco-I don't think if I had not asked him that I would not be on it. It WORKS amazingly on our mutation-it is truly a miracle!
I'm not sure if someone posted this already - but here is a link to accredited CF centers/doctors in Canada: http://www.cysticfibrosis.ca/en/treatment/FindaCFClinic.php
G
gunelle
Guest
Hi Marci, please can you explain how kalydecho has helped you? Are you still doing your treatments, or do you not need them anymore? How does the drug affect the body?
Thank you
G.
Thank you
G.
M
marcijo
Guest
Sure! The most noticeable thing is that I rarely cough anymore. I used to hate to be in a quiet room with others because of my coughing. Now I don't have to worry about that. I rarely have mucus production-before Kalydeco I used to cough up gunk every day!
I am still doing my treatments-I have an appt on Aug 9th - so we'll see what happens. I am thinking they will still keep me on it though until the FDA approves Kalydeco for the R117H mutation (they are starting tests on it).
It really has made a huge difference in my life! My sweat test went from an 81 down to a 36 (normal!) which is amazing. My PFT's only went up from 83% to 87% - but it was still an increase! I am hoping they are higher at my next appt.
From what I understand about Kalydeco - it corrects what is CF makes go wrong with your body (in very simple terms) - and I think makes it work like a normal person's body would-amazing!
I am still doing my treatments-I have an appt on Aug 9th - so we'll see what happens. I am thinking they will still keep me on it though until the FDA approves Kalydeco for the R117H mutation (they are starting tests on it).
It really has made a huge difference in my life! My sweat test went from an 81 down to a 36 (normal!) which is amazing. My PFT's only went up from 83% to 87% - but it was still an increase! I am hoping they are higher at my next appt.
From what I understand about Kalydeco - it corrects what is CF makes go wrong with your body (in very simple terms) - and I think makes it work like a normal person's body would-amazing!
G
gunelle
Guest
Hi Marci, thank you for replying <img src="i/expressions/face-icon-small-smile.gif" border="0"> I am glad that Kalydecho has worked for you an improved your quality of life. But I am doubtful how if it will apply to me. The results you describe I have had too, when I was diagnosed and started daily treatments. Before I started with saline, pulmozyne and antitibiotics nebbed, I too coughed all the time and produced mucus daily. Now I only do when I have an exerbation.
My sweat levels have always been low, but a blood test showed i have F508d/R117C.
I wonder if the drug is meant to replace daily treatments? And surely it will be more of an aid to those with more severe case history than we have? I hope that it will help them.
Thanks
G.
My sweat levels have always been low, but a blood test showed i have F508d/R117C.
I wonder if the drug is meant to replace daily treatments? And surely it will be more of an aid to those with more severe case history than we have? I hope that it will help them.
Thanks
G.
My son also has F508 and R117H. His doctor has always said that he will most likely be "mild" his whole life. In fact he has gone 9 years before he started to show "signs" of having CF. Within this past year he got (and got rid of) Pa, x-ray showed damage, and his lung functions went down...but his last appointment last week showed them higher then they have been in a while (thank you for our swimming pool and increase in treatments). At our last appointment his doctor mentioned that they applied for the trial for Kalydeco for R117H and are waiting to hear if they got it. I def want to have him in it if he applies. I also agree that you need to fight for yourself. About a year 1 1/2-2 years ago my son's doctor told us that he's falling into what they call "CFTR-Related Metabolic Syndrome" because his sweat test are always "borderline". I asked if his treatment would be any different and doctor said no, so I pushed to keep the CF diagnosis (more for insurance reasons, he is on MA) and I'm glad I did because of this past year. I should also note that his doctor did not seem like she wanted to push the CFTR-Related Metabolic Syndrome either but it was something that was being pushed on her. You need to find the time to get to your CF doc and have your lung function tested...my son goes every 3 months. Millie