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Hi, I have a few questions about cystic fibrosis (CF), hopefully someone can answer

  • 07-06-2013 08:55PM
    #1
    LegacyUser
    Registered Users, Registered Users 2 Posts: 166,012 ✭✭✭✭


    I can't seem to find an answer to this: can you be tested for the CF gene if you don't know of anyone in your family who has CF or has the gene? If so, what is the most reliable test to know whether one is a carrier?

    I'm not particularly close to much of my family and I don't want to be digging into personal questions like this. But I do want to know if I am a carrier for CF.

    I'm 30, and for as long as I can remember I've had chronic sinus issues and sputum production--I cannot go half an hour of socialising or talking without having to spit out phlegm. It has massively interfered with my work and personal life. I've ruled out food and other allergies, so I'm forced to conclude it must be a genetic predisposition.

    Apparently there is mounting evidence that people who carry *one* gene for CF (as you'll know, you need two mutated genes to express full CF) can be plagued with sinus and mucus problems that fall short of CF but can still be debilitating.

    Most doctors, I've heard, tend to be dismissive of this, but based on my exploration of this topic it seems plausible that being a CF carrier can predispose you to sputum and cough issues. I want to get tested for it.


Comments

  • #2
    Hersheys
    Closed Accounts Posts: 1,308 ✭✭✭Hersheys


    http://www.genetics.ie/clinical/

    They're the guys who do all of the clinical/genetic testing in Ireland. Your best bet would be to contact them and see if a) they do the genetic screening for CF; and b) providing they do do the screening, what steps need to be taken (GP referral would be essential I assume).

    There is a massive waiting list to be seen by the team. Just googling the clinic brings up some news reports dated May 2013 highlighting that there is an 18 month backlog in clinical testing for the BRCA1/2 gene for genetic breast cancer (the type Angelina Jolie tested positive for, resulting in her preventative mastectomy).

    Without meaning to trivialise your problem, I would imagine that unless there is clinical evidence that you a) are a carrier or b) have the disease, it will be a while before you get seen.

    Have you spoken to your doctor about your concerns?


  • #3
    jacksonsarm
    Registered Users, Registered Users 2 Posts: 19 ✭jacksonsarm


    hi op.

    I have cf. I am 38 years old and was diagnosed two years ago. It came as an awful shock. I had pretty much the same symptoms as yourself. My sinuses are awful and i produce a lot of sputum. I have a mild version though so that's why i got through so much of my life with out finding out. I finally found out when i was was referred to a respiratory consultant after getting constant chest/sinus infections. They found bronchiectasis and thought it would be worthwhile testing for cf.

    No one in my family had cf though since i've been diagnosed my brother has also got a diagnosis. Neither of my parents have cf.

    I don't know much about a person with one gene getting cf.

    There are a few ways to get tested. A genetic test would be done after consulting with a doctor or respiratory specialist. Blood tests and sweat tests would also help to rule cf out or in. Don't delay because cf is a chronic condition and a diagnosis would help to keep a persons lungs healthy.

    Hope thats of some help. If you have any questions just ask. Also, the cf ireland forum might be a good place to look too http://212.21.121.186/phpbb3/index.php?sid=c60ed576dd2de4e789e1f269aa2f610d

    good luck


  • #4
    LegacyUser
    Registered Users, Registered Users 2 Posts: 166,012 ✭✭✭✭LegacyUser


    Thank you for the replies, and my apologies for the late reply.

    @Hersheys, yes I spoke to my doctor about 5 years ago and went to see an ENT. Bottom line is, I don't think I impressed upon them the extent of the illness. I'm a naturally "stoic" person who downplays problems as much as possible, and now I realise a little hyperbole is sometimes necessary to snap them out of their indifference and get them to take you seriously, especially when you don't seem to fit the profile/demographic of someone who'd be at risk for illnesses like this.

    They suggested "phlegm is normal", and "take some fisherman's friends" (some kind of decongestant lozenge), which is a joke when you realise how bad my situation is. I will check out that website, thank you for the link.


    @ jacksonarm: wow, that's wild. I've taken your words to heart. If you return to this forum, could you tell me more about your diagnosis--you say it was a mild version, did you get a genetic test or blood/sweat test?


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