princesskc2MemberFebruary 18, 2013 at 3:04 pm #171205433473
Hi AmalynRose, sorry for not replying earlier, I meant to but then things came in the way I get the sinus headaches with smoke as well, I cover my mouth and nose as I walk by someone who is smoking. It affects the lungs as well, but the sinusis is what I notice straight away. I have just finished a 3 week treatment for my sinusis, as I kept getting headaches and then a head cold that made it worse. I was home for 4 days about 2 weeks ago. I had some mucus stuck that I had difficulty getting up, which made me have flu like symptoms. I also have bronchiecstatis, bilaterla, becasue of CF, do you have that also? Hope you are doing well. We are going to see a gynacologist in the near future, who is familiar with CF. Keep us posted how you are.
😮janiceMemberDecember 27, 2012 at 3:15 am #171205299550
I have the exact same mutations as you- DF508 and R117H. I was diagnosed at age 21 when I came down with walking penumonia. They wanted to figure out why I had it, gave me a TB test and a sweat test. Sweat test came back borderline, so they did a genetic test to test for CF-came back positive. I was surprised to say the least-but looking back it made sense (I had nasal polyps taken out when I had my tonsils taken out at age 12, etc).
After I was diagnosed I started going to a CF center. As I grow older (I am 38) – I did notice that my symptoms were getting worse. I would get sick more often-have to go on antibioitics more often etc. About 8 months ago-I asked my doctor if he would write me an Rx for Kalydeo (the new miracle drug) and he did. My insurance covered it-and I started it. It makes an AMAZING difference for me. No more cough, lung function increase, sweat test is normal, etc. Insurance tried to deny me after 6 months as I am off label (it is not approved for my mutations-but they are doing a trial right now on the R117H gene). It works-and it is AMAZING.
Anyways-it sounds like the Mayo Clinic is taking good care of you. I had 2 children with no problems. My first child I couldn’t gain weight (which is funny because I am actually an overweight CF’er and I have NO problem gaining weight normally). I had to get a PICC line and go on TPN (nutrition) for the last 2 months of my pregnancy. My pregnancy with my daughter was totally normal. My husband was tested before we decided to have children and his results came back negative.
I agree with the exercise-it really helps. I have fallen off of the exercise wagon on this past year-but my goal is to start running again.
Good luck – and keep us posted on how it is going
Oh-I am pretty sure I have the 5T variant looking at my symptoms. However-when I was diagnosed (1994) they didn’t have that test apparently-because the only thing in my records is the R117H – no variant.December 21, 2012 at 4:58 pm #171205300768
Good morning everyone!
I thought I would share a quick update on what I have found out from my doctors throughout the week. I had a pulmonary test: normal. Sweat test: normal. ECHO (I am post cardiac ablation for SVT, but they said it was to check pressures in my heart): normal. Chest x-ray: normal. Fat test: pending.
I meet with the CF people at the clinic and they were very helpful. They did confirm, like many of you have stated, that I do have CF even though I show no symptoms at this time. I really appreciate everyone’s advice in seeking out a CF center. Please understand that I am keeping this in the back of my head, but Mayo has treated me very well over the past 10 years and I am accustomed to the top notch care I receive not only from specialists, but from my family doctors as well. I am sure a CF center would provide amazing care as well, but due to insurance restrictions and me being a student with no current employment, I don’t think it’s in the cards right now.
My mother (thankfully) has agreed to get tested for CF so we can find out if I carry these on one or two chromosomes. My CF doctors stated that regardless of how that test turns out, they want to see me at once a year to ensure my health remains stable.
Deb and kittenface, I really appreciate the insight you have provided here. I will start exercising right away. I have battled my weight for the last 6 years. I have already made changes to what I eat. This is a good push to get me back in the gym on a regular basis.
I will continue to post updates as I receive more information from my doctors. If there is anyone else out there that has these mutations, I would appreciate your insight on what to expect as I get older.
Thank you again to those who have posted!
AmalynRose65IrishRosesMemberDecember 21, 2012 at 3:31 pm #171205301164
I have the same mutations as you so I must tell you: you DO have CF and it WILL get worse. In fact I was diagnosed at 24 as well. Except for a nagging cough I was pretty healthy when I was diagnosed and remained that way for many years. Our local doctors had no idea about CF so they sent me to Mayo Clinic. I’m sorry to say that Mayo was no help at all. They are a great hospital but not for CF. Getting to a CF center is the most important thing you can do. Genetic testing was not available so my husband and I took our chances and we have 2 healthy children. However, over the years I developed several nasty infections including MAC. I don’t want to be negative but want to stress the importance of being seeing by a CF center and taking care of yourself NOW before the progression starts.
My second piece of advice is EXERCISE. I wish I had started at age 24. Exercise is more helpful than a vest and meds at times. It took me many years to find something I could stick with but now I work out 5 days a week and I am in the best shape and health ever at age 52. Good luck to you.ZyrexanaMemberDecember 21, 2012 at 3:42 am #171205289504
I have the same gene combination as you. I am 47 and was diagnosed at 37. I had always had lung issues growing up. My lung function was 107% 10 years ago and now it’s 92%. I’m now starting daily physio and should exercise 5 times a week -cardio. In the last 10 months my lung function has dropped just over 8%. You’ll probably hear from other Cf’ers with the same combo …will tell you the same thing mild CF doesn’t always stay that way. My hub was tested and he is not a carrier. I have 2 young daughters who are both carriers (no CF) It’s really important to have your husband tested for a full sequencing. The D508 is the more severe gene. Your genetic specialist should share with you the chances of having a baby with CF. if you would like to chat further You can send me a private message. It’s scary when you are first diagnosed and it helps to talk to someone else who’s been there. Take care.
KittenfaceNaomiMemberDecember 19, 2012 at 8:03 pm #171205431882
OMG. If you have CF (and you do) and your husband has CF, EVERYONE OF YOUR CHILDREN WILL HAVE CF.
If your husband is a carrier (one mutation) there is a 50% chance that your child will have CF and a 50% chance that your child will be a carrier.
Just because you are being seen at the Mayo Clinic, does not mean that you are being seen by a CF Specialist. You DO NOT need to “show symptoms” to be dx with CF.
BillDecember 18, 2012 at 10:44 pm #171205431843
I have always gotten sinus headaches but attributed them to seasonal allergies as they only occurred during spring and fall. However, I am finding that as I get older I am getting more frequent sinus headaches. I also had an upper respiratory infection in August, something that I have never experienced before. As a child I didn’t get colds or the flu at a rate any different from other children. If anything, I got sick less often then other children. As an adult, I do not get sick very often. However, when I do, I get really sick. I often have to miss school or work because of it. However, I have never been hospitalized due to a cold or flu.
I do find that I am very sensitive to cigarette smoke. If someone walks by me on the sidewalk with a cigarette in their mouth I almost instantly get a sinus headache. Does this happen to you as well?
I hope you and your partner have a smooth conception and pregnancy!
Amalynprincesskc2MemberDecember 18, 2012 at 9:01 pm #171205431840
Hi, I have almost the same mutations as you. F508d/R117C. By reading on this forum for a couple of years, I have found that the symptoms of r117h and r117c are about the same. Lung and sinus problems but PS. I cannot tell you if the mutations are on the same cromosone or not…just wanted to reply and see how you are doing healthwise. Have you not experienced any health issues at all? No ‘having a cold all my life’ or daily mucus or sinus headaches? I was diagnosd with mild cf at 32, but at 24 as you are now, I did have symptoms, just didn’t know what they were and the are more severe now. As to having symptoms to be able to be diagnosed I disagree. You have two mutations therefore you have cf. Your symptoms will most surely come ( would be strange if not). My partner has also been tested and came back negative, but has not had the full panel testing. Not possible here in spain. But we are most likely going to try for a baby also…Hope to hear from you soon.December 16, 2012 at 5:20 pm #171205431802
All of my care is being done at the Mayo Clinic in Minnesota, so I am sure I am in good hands. My husband and I have discussed having him tested for the rest of the CF mutations. We do not know if this will be covered by our insurance. Regardless of if we have him tested or not, we are still going to have children and those results will not change that. As a result, we are determining if the cost of having him tested again for more mutations is really worth it.NaomiMemberDecember 16, 2012 at 4:47 pm #171205431801
Alot of Doctors are totaly ignorant about CF. There is no question that you have Cystic Fibrosis, you do. You need to be seen by a CF Specialist at an Approved CF Center. It is important to know that there are almost 2000 CF mutations. Given that your husband was tested for the most common, he was tested for less than 250 of the 2000.
Husband should be given a FULL CF SEQUENCING.
If your husband tested negative, given theDecember 16, 2012 at 4:24 pm #171205431800
My doctor stated that in order to be diagnosed with CF, I would need to display symptoms. I have a plethora of tests this coming week to see if I am displaying minor symptoms that I have been unaware of.ldyParticipantDecember 16, 2012 at 11:51 am #171205431796
There are many knowledgeable people on this forum…hope they get back to you. So, to clarify, you have CF? They are studying a great new drug on your R117H mutation–but it sounds like you wouldn’t qualify b/c you are so unaffected by disease…good lucky finding your answers.AmalynRoseMemberDecember 16, 2012 at 3:24 am #1712471
I am 24 years old and was just informed by my genetic consular that I have both the DeltaF508 and R117H mutations. This came as a bit of a surprise, as I have been asymptomatic or had mild symptoms my whole life. We are unsure if I have the 7T or 9T alleles. I was tested because my husband and I are planning on starting a family and there is a case of CF on my father’s side of the family. My husband’s side of the family has no history of CF but since he is of European decent, we decided it was a good idea to have him tested, too. He came back negative for the most common CF mutations.
Our genetic consular was very nice, but she spoke English with a very thick accent. There was a little bit of a language barrier during our appointment and I was hoping someone may be able to clarify a few questions for me.
Our genetic consular implied that these mutations could be on the same chromosome or on different ones. She talked a little bit about how the 5T can cause infertility in males. Can the DeltaF508 and the R117H mutations be on the same chromosome? If so, does it really matter if I have the 7T or 9T alleles? Would having the DeltaF508 and the R117H on the same chromosome would affect fertility in a male child if he did NOT inherit another CF mutation from his father?
If anyone can please clear up this confusion for us, it would be greatly appreciated!
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