Possibly CF?

[Raakel]

Hello! I'm not sure if this is the right place to post this question or not. I'm 40 years old and I have a family history of CF, but I'm wondering if I myself could possibly have CF. I'm visiting the doctor in a few months to discuss these problems and to get a referral to the hospital for genetic testing. I'm not sure if anyone has experienced any of the following, or if the symptoms are all relevant to CF:

Recurrent pancreatitis
Recurrent sinusitis
Recurrent bronchitis
Atelectasis
Nodular density on lung
Recurrent pneumonia
Nasal polyps
Severe acid reflux
Biopsy confirmed Coeliac disease
Hypothyroidism
Fatty liver
Elevated liver enzymes
Biliary sludge (gallbladder was removed)
Arthritis
Persistant constipation despite dietary modifications

Thanks for reading. This is an informative forum, and I expect to learn a lot here.

 

[gunelle]

Yes, this could be CF. I would get the genetic testing as soon as possible. How are you doing at the present?

 

[Raakel]

Yes, this could be CF. I would get the genetic testing as soon as possible. How are you doing at the present?

Hi gunelle! I'm pretty congested and tired most of the time, and I've missed a lot of work during the past few years.

 

[Printer]

Raakel:

I'm male 73 with CF. Your symptoms are classic. I don't know anything about the medical system in Finland but you should not wait. Get yourself into a CF Clinic right away.

Bill

 

[LittleLab4CF]

Raakel,

I agree, get an appointment at a Cystic Fibrosis clinic soon. Finland has one of the higher occurances of CF so there should be a dedicated adult CF clinic. As you know, CF is a genetic disease or more accurately a genetic condition that could present clinical symptoms of CF. Genetic testing for CF could yeild results that could provide you with a genetic medicine, now or in the near future. More than likely it will provide your CF specialist with a more concrete sense of your genetics in terms of CF.

Based on your list of issues and symptoms you are clinically presenting CF. With the caveat that I only have a tiny bit of information about you; If it looks like a duck, quacks like a duck and walks like a duck....... it's a duck!! I needed to be treated as if I had CF years before anybody thought to test for CF. Testing may give you a confirmation that you have CF and you haven't just gotten a case of Finish Sea Ferry Sickness.

If you have missed being diagnosed until age forty, chances are you need to get as far away as possible from your current medical team. They aren't stupid, I was diagnosed at age 52 and excepting missing my diagnosis they were great doctors. CF is tricky and CF is sneaky so be sure you find a clever team that knows CF top to bottom.

LL

 

[JustaCFmom]

I just wanted to add that here in Israel the standard genetic test is for 14 mutations. There are over 1900. In such a case, it is possible to get back a false negative because 14 is so few. If your health plan won't cover a full sequencing, and you get back a negative result, it would be worth doing it privately.

How does it work in Finland?

If one has a cousin with CF then, I think, the odds are 1 in 8 to have CF. What is the family history?

It sure sounds like a 'duck' to me!

I wouldn't wait months to find out. Almost everyone feels SO MUCH better once they are following the treatments, etc

Good luck!

 

[Simba15]

Yes I have experienced some of those and you should get a blood and sweat test. Surprised no one tested you yet!

 

[Raakel]

Thank you for all of the responses!

In Finland, cystic fibrosis is considered a rare disease. There are less than 100 people with CF in the entire country (65 in 2006).

Also, unlike other countries, sweat test values under 60 are considered normal, and 61-80 is something of a grey area. Only results over 80 affirm a diagnosis.

I had a sweat test today, and the result was 44. I was told this was absolutely normal, so no genetic testing will be pursued. They don't even do full genomic sequencing (?) anywhere in Finland, and the test for the 23 most common mutations costs 1600 euros through a private doctor.

Thanks for listening (or reading rather).

 

[Printer]

Raakel:

It is now time for you to vacation in Canada or the United States. Go to an Approved CF Clinic and see a CF Specialist.

Bill

 

[MotherofCFBoy11yrs]

Hi Raakel, we are in Finland too! LittleLabCF is right in saying that Scandinavian countries have a very high incidence of CF, but Finland is the exception because our gene pool is different.

We moved to Finland from Australia three years ago and I've concluded that getting proper CF care in Finland is close to impossible. I've just managed to organize my son's care so that it will be directed from Denmark (we have visited the excellent Copenhagen CF center every year since he was a few months old). The good news is that for example Sweden also has good CF care. If I were you I would contact the Karolinska Hospital in Stockholm and tell them about your situation and ask if they can help. The payment side of things can be organized once you have a diagnosis, there are different ways, it's a headache but can be done.

Actually, you could ask Professor Mertsola in Turku if he can help with the diagnosis. I don't know him but he has recently published this document: http://www.kunnat.net/fi/tietopanki...mi/Documents/2012-12-04-07-Mertsola-Jussi.pdf and I think he is one of the people who has been involved in mapping the CF genes in Finland.

 

[LittleLab4CF]

MotherofCFBoy11yrs,

Thank you for graciously correcting my information. Finn's have about 1/3 the potential for CF as Sweeden, Norway and Denmark on down into Europe. Sorry for the error, and thanks again for catching my error.

LL

 

[Raakel]

Thanks once again to everyone who has replied to me, and I appreciate all of the information and advice very much.