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Thread: Negative sweat chloride, cf still possible?

  1. #21
    Just saw this article and thought of you. My issues did not start until I was 4, but this experience started at birth and sounds similar. I know it was very hard for my parents not to be able to find answers, so wishing you success for early treatment!
    http://www.nwherald.com/2018/04/09/t...ghing/apqfop9/

  2. #22
    Junior Member
    Join Date
    Feb 2018
    Posts
    11
    Ddawson, that is super helpful information. I think I might need to push on the genetic testing for him then. If he ends up in the hospital one more time, his pediatrician agreed that we should send him somewhere where they deal with more rare diagnosis and stuff.
    Kristan that article is sooo helpful! I feel like it completely describes my son, except heís only 2 1/2, and I honestly donít remember what his birth was like. I had an emergency csection that was quite traumatizing and my son had gastroschisis so I was more focused on his intestines not being in his body and having surgery and such, I donít remember if he was on oxygen right away. I feel like him needing oxygen is getting worse as he gets older actually. His third winter was by far the worst with about 5-6 hospitalizations and multiple ER trips. Thank you for the article! Any other info is helpful as well!
    Also, do either of you know of a forum like this for PCD? Where I can talk to multiple people who have it?

  3. #23
    There is a PCD Foundation website. They had a forum at one time, but now have a closed facebook group you can join. I would encourage you to contact one of the consortium clinics (PCD clinics) to discuss the information you have at this time. I have 2 recessive genes and my organs are on the correct side, so I was never diagnosed. There are 5 main PCD genes, but the consortium in mapping out genetic information and will probably have a growing number of mutations over time. Treatment is to follow CF protocol to prevent lung damage.
    Not sure if your child is too young, but a nasal nitric oxide test provides clear evidence of PCD. It is low for CF and very low for PCD. Easy and quick, but not a lot of places have the equipment.
    Also, if your son is getting pneumonia frequently, you may want to look into CPT (manual percussion therapy) or a vest (ask doctor) to loosen and clear mucus. As a child, my mom thumped my chest while I hung over the couch. A vest device is much easier, but insurance will want a diagnosis to cover. Sometimes just gathering pieces of evidence can get coverage - bronchiectasis, hospitalizations, etc

  4. #24
    Junior Member
    Join Date
    Mar 2018
    Posts
    5
    The "PCDF Connect" and "PCD Family Support Group" pages on Facebook have members with kids who have PCD and also members who themselves have it. Definitely worth joining and asking any questions you might have. I'm sure they can point you to the best way to go about testing, etc.

    And I agree with the previous poster. Even before getting a positive diagnosis, treatment is possible. Standard treatment for PCD seems to be: 1) albuterol, 2) saline, 3) and either CPT or a vest.

    Chest Physiotherapy is something you could even do daily now just to help him move mucus along if you think he needs help with that now. My sister in law does it for her baby when he gets a cold and he doesn't even have PCD- it just helps him have a more productive cough. You can get the little palm cup percussors fairly cheaply off Amazon. Obviously, first check with his doctor just to make sure there isn't some reason he shouldn't do it.

  5. #25
    My case, it is a similar situation, the sweat test was not proactive and it was negative. I'm waiting for new tests and I'm terribly scared by their results, I hope everything goes well ..

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