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Thread: New possible diagnosis

  1. #1
    Junior Member
    Join Date
    Aug 2019
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    New possible diagnosis

    Hey,

    Iím from the Netherlands so my apologies if my English isnít so well. I have a question...

    My 3-year-old son will soon have an appointment at the pediatrician where I will express my concerns about possible CF, but I am looking for some information in advance.

    He was born at 36 weeks and had no first stools until after 48u, using an enema and then it took another 2 hours but then it came.

    Then I expressed all my concerns about this to the pediatrician at the hospital, but he said that I should not be worried and that a possible cause would also be looked at at the newborn screening.

    It came back negative and then I stopped worrying about it actually. He grew well (at least until breastfeeding stopped, he then dropped a line but kept that line and had no lung infections).

    However, it now takes little effort to discover that a newborn screening in a child with Meconium Ileus often gives a false negative result. I therefore do not understand why the pediatrician did not have the delayed meconium passage examined further immediately and all my worrying is back.

    So now we are 3 years further. From the age of 1.5 he has an chest infection more often. In the sense that he can cough a lot in the event of a cold, which persists after the cold so reminds of bronchitis? He has had that several times now, and certainly in the winter, but so far it is fairly easy to get over without help. I guess he now had about 7-9 periods with a quite persisstent cough.

    In my opinion, he doesn't gain weight enough by looking at what he eats even though everyone arounds me keeps saying itís just his figure. He often has a somewhat loose stool and this also floats 99% of the time. So my feeling / fear says, and certainly because of the whole meconium story, that he might had cf after all.

    My question now is, does this later diagnosis (in case I am right) automatically mean a poorer prognosis? Greater chance of problems / lung damage / lung transplantation? Or does this not necessarily have to be? In other words, are we 10-0 behind already?

  2. #2
    Super Moderator
    Join Date
    Apr 2006
    Posts
    20,950
    There's something to be said about an earlier diagnosis and being proactive to minimize lung issues; however, if it is CF, one can't worry about what ifs or what they should've done knowing what they know now. One can only move forward. Being your child has had lung infections, loose stools and difficulty gaining weight, in my opinion you should push for testing to rule out CF.

    There are a number of individuals who have been diagnosed later on in life and once they started receiving treatment --- digestive enzymes, chest physiotherapy, etc. that their quality of life improved significantly. I hope you can get some answers soon.
    Parent to a child wcf double delta f508.

    Started Orkambi July 2015
    Began Symdeko August 2018

  3. #3
    Junior Member
    Join Date
    Aug 2019
    Posts
    5
    Thank you. I pushed and we get a sweattest done next monday. I was wondering, in case there also needs to be done a DNA test, is that possible with saliva or do they need to take blood?

    They took blood the other day in the hospital for regular testing like iron levels and stuff so I would not like him to go through that again, if not necessary... although he didnít cry at all but rather not again

  4. #4
    Senior Member
    Join Date
    Sep 2016
    Posts
    201
    It will be a blood test for a full genetic test. With having cystic fibrosis you unfortunately become a human "pincushion". Give him lots of love and something to look forward to afterwards! I hope you get answers soon and keep us updated so we can help you in anyway we can.

  5. #5
    Junior Member
    Join Date
    Aug 2019
    Posts
    5
    Last week the pediatrician ordered a stool examination to check the elastase. Last night she called to indicate that it gave a good result. She stated a value of around 400.

    I know that not all CF people suffer from a poorly functioning pancreas. But it is strange that this does not explain his faeces pattern. He has also shown no food intolerances she said.

    The sweat test tomorrow. Will discuss it there because read about atypical CF and low / normal salt values ...

    Obviously happy with a correct elastase amount , but slightly confused due to bowel movements and his weight.

    Curious what people at the cf center will say about this tomorrow ...

    Any thoughts or tips?

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