Search:

Type: Posts; User: emason

Page 1 of 2 1 2

Search: Search took 0.00 seconds; generated 11 minute(s) ago.

  1. Replies
    3
    Views
    4,023

    Hi! My son has a CRMS dx. He just turned 5. We...

    Hi! My son has a CRMS dx. He just turned 5. We are still pretty grey. He goes to clinic every 3 months and ENT every 6. He has some milder issues but so far nothing that makes them want to change his...
  2. Replies
    2
    Views
    4,901

    I would think it's because they have research...

    I would think it's because they have research that indicates neither of those genes disrupt the cftr channel individually enough to result in CF but they likely don't have any information on whether...
  3. Thread: Tracheal Tug

    by emason
    Replies
    0
    Views
    1,185

    Tracheal Tug

    Hi everyone!

    I'm wondering if anyone has any ideas about this. My 4.5 year old has a CRMS dx (1 classic CF mutation, 1 rare variable mutation, low sweat score). About 5-6 months ago I started...
  4. Replies
    1
    Views
    31,542

    No experience with r334q but my son has df508...

    No experience with r334q but my son has df508 plus a varying consequence mutation (which I believe r334q also is) and he is also dx crms.

    He's 4 now and we still are living in diagnostic limbo.
  5. Replies
    24
    Views
    10,816

    My son has low sweats and 2 mutations. His...

    My son has low sweats and 2 mutations. His diagnosis is CRMS though and not CF since his sweat is so low. While it is possible to have the genetics even with a negative sweat, USUALLY (and there are...
  6. Replies
    12
    Views
    5,214

    Wanted to check back - How'd the sweat test go?

    Wanted to check back - How'd the sweat test go?
  7. Replies
    12
    Views
    5,214

    Ah what a shake up. You know, the thing to focus...

    Ah what a shake up. You know, the thing to focus on is that IF he has CF, he's always had it. So the results are not changing anything but your awareness. All this time while you were trying to treat...
  8. Replies
    12
    Views
    5,214

    My son has had 5. They have all been within 10...

    My son has had 5. They have all been within 10 points of each other. The second one was a few points higher than his first but then the 3rd was actually his lowest and the 4th was a little higher...
  9. Thank you for updating! I find your situation to...

    Thank you for updating! I find your situation to be very interesting since you have the same mutations as my son. I have to imagine there must be other genetic modifiers at play for G1069R to result...
  10. Replies
    16
    Views
    4,659

    Staphylococcus Aureus is an incredibly common...

    Staphylococcus Aureus is an incredibly common thing to show up on a throat culture. Usually clinics don't treat unless they feel the person is symptomatic. Even a large amount of people without CF...
  11. Replies
    16
    Views
    4,659

    A lot will probably come down to the genetics...

    A lot will probably come down to the genetics panel. I'm sorry they can't do the full panel straight away but hang in there. Hopefully there will be answers soon.

    CRMS kids do stay under clinic...
  12. Replies
    16
    Views
    4,659

    Couple things. First is that with PFTs, remember...

    Couple things. First is that with PFTs, remember there is a learning curve and if this was his first time then I wouldn't be surprised if those scores were low estimates. The number that people use...
  13. 5t can be disease causing when paired with a CF...

    5t can be disease causing when paired with a CF causing mutation. It's a complicated one. Have you looked at CFTR2.org? You'll see that the 5t variant is influenced by the TG - in your case that...
  14. Replies
    16
    Views
    4,659

    Next step is Genetics for sure. My son has two...

    Next step is Genetics for sure. My son has two mutations but a low sweat test (negative actually!) and has a diagnosis of CRMS. We found out I was a carrier when I was pregnant with him. At that...
  15. How did the CT go? Hopefully no news was good...

    How did the CT go? Hopefully no news was good news!

    We talked briefly as my son has the same mutations as you, OP. I'm curious if you have had sinus issues? We go to ENT next month but his...
  16. Thread: Drinking water

    by emason
    Replies
    5
    Views
    2,665

    CRMS is essentially a gray diagnosis given when...

    CRMS is essentially a gray diagnosis given when not all criteria is met for a CF diagnosis yet there is cause to still monitor. Most of the time children with a CRMS diagnosis have a positive newborn...
  17. FYI! G1069R was just approved for Kalydaco. If...

    FYI!

    G1069R was just approved for Kalydaco. If you have any health concerns pop up you should talk to your team!
  18. Thread: Drinking water

    by emason
    Replies
    5
    Views
    2,665

    Hi there! I have a child with a CRMS...

    Hi there!

    I have a child with a CRMS diagnosis. Do you mind sharing what mutations your child has?
  19. Replies
    11
    Views
    3,973

    My 2.5 year old son has a CRMS diagnosis (CFTR...

    My 2.5 year old son has a CRMS diagnosis (CFTR Related Metabolic Syndrome). He has 2 mutations. Df508 which is clearly disease causing and G1069R which falls into the mutation of varying consequence...
  20. Replies
    9
    Views
    1,994

    That's actually what the doctor had thought it...

    That's actually what the doctor had thought it was going to be initially - related to reflux. So they had the GI do an endoscopy after the bronch and now I'm thinking it's unlikely that is the issue....
  21. Replies
    9
    Views
    1,994

    Thank you for your insight! I am very new to this...

    Thank you for your insight! I am very new to this all and before my son's dx I can say that I really knew nothing about airways/cf/asthma - any of it! So I am behind the curve here.

    He did have a...
  22. Replies
    9
    Views
    1,994

    That's exactly it. I know that many people will...

    That's exactly it. I know that many people will say that it's not important what it's called as long as issues are being treated but it kind of is important to me. I would like to know if it appears...
  23. Replies
    9
    Views
    1,994

    They did repeat after albuterol. I'm super...

    They did repeat after albuterol. I'm super anxious to know the results because the pulm made it seem like he didn't expect it to go the way it went.

    The hardest part for me is that he is CRMS -...
  24. Replies
    9
    Views
    1,994

    Bronchoscopy Question

    My 17 month old son has a CRMS dx (df508 + a "varying consequence" mutation and negative sweat). We switched clinics about 4 months ago. Our new clinic felt that my son's health history and culture...
  25. Replies
    14
    Views
    3,068

    Thanks for that info Autumn! That's actually what...

    Thanks for that info Autumn! That's actually what I have been trying to understand about how cultures might be interpreted with symptoms. My son had another positive culture for A. Baumannii last...
Results 1 to 25 of 43
Page 1 of 2 1 2