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Thread: DeltaF508 and R117H

  1. #11
    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 least once a year to ensure my health remains stable.

    Deb and kittenface, I really appreciate the insight you have provided here. I will defiantly 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!

    AmalynRose

  2. #12
    marcijo
    Guest
    Hi there!
    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.

  3. #13
    gunelle
    Guest
    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.


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