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Cystic Fibrosis
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Posted 4/8/2005 2:11 AM (GMT 0)
I am so confused!!! I'm 25 and in medical school ... grew up with what was called "severe atypical asthma". I got pseudomonia once, and had other weird respiratory issues that are not usually seen in asthma. fine, well, then in med school we learned all about genetic diseases and cystic fibrosis etc. One thing we learned was that carriers of the CF gene are more prone to asthma. Huh, interesting. So my husband and I decided to go for genetic testing before trying to get pregnant next year. His came out as a carrier. Mine came out as having 2 mutations in the CF gene. What? I thought the problem was a phenylalanine substitution, a single problem. So I asked my genetics prof and he said that different mutations can cause it. I asked if my husband and I have different mutations, can our children still get CF? He said yes. So then the place I had gone for testing asked to see the old records from when i was a kid and they did a sweat test. Mom dug that out and the Cl level was at the upper limit of normal. so what does that mean???

I'm so confused because I dont know what any of this means for me or for my future children. I have finals in 2 weeks so I really don't have time to be thinking about this now...but during break I am supposed to go to the CF clinic near our home (in New York City) for additional tests. what tests? what are they trying to figure out?

If anyone can shed any light on this, I'd appreciate it. I feel like i should know more, being that I'm going to be a doctor myself soon...but the fact is that I feel totally blindsided. Thank you!! - Anna

Posted 4/8/2005 5:19 PM (GMT 0)
If your test came back positive for two CF gene mutations, you have Cystic Fibrosis.  Do you know what your mutations are?   What symptoms have you had throughout your life, other than "asthma"?  As for you sweat test as a kid, it is not uncommon to have a high norm result, it really should have been repeated.  A lot of CF patients are misdiagnosed as simply having asthma.

As for future children, if you have CF, and your husband is a carrier, I beleive that the chances that you will have a baby with CF is 50% with each pregnancy.  Your genetics prof can correct me if I am wrong.  If both parents are just carriers, you have a 25% chance with each pregnancy that your baby will have CF.

At your CF clinic appointment you will probably meet the "CF team", which typically includes docs, nurses, RT, nutriton, social work.  They will probably do further blood work, including vitamin levels, LFT's, etc.  Sputum cultures along with PFT's (to measure you lung function and capacity) are also something they may do.  They will probably do a lot of education with you, spend a lot of time answering your questions.

Hope this helps you out somewhat...  I know, its overwhelming to think about.

Posted 4/8/2005 6:52 PM (GMT 0)
Hi - Thanks so much for replying! I never had any of the GI problems associated with CF...I've always been pretty much average weight. My lungs have always been a bit of a pain in the neck...like when I get a cold it takes 4-6 weeks for my lungs to stop being really junky. My parents were taught how to do chest PT and did that whenever I had a cold to help me clear out the mucus. For asthma they also do PFTs and mine never came as close to normal as they were supposed to...even after taking albuterol I'm in the 85% range, which apparently is low for someone with asthma who is diligent about her medications. As a teenager I was hospitalized about 10 times with asthma...they always gave me tons of steroids and strong antibiotics and I got better. At home I have a nebulizer to use whenever I get sick. So thats pretty much the story. Shouldn't this have been picked up before now? Honestly I thought people with cystic fibrosis did not live to be my age without aggressive treatment, let alone without a diagnosis! So with the mutations, if there are 2 different mutations in the gene, isnt it possible to be just a carrier of 2 mutations? or does any gene muation shut the gene off, making it not matter what or where the mutation was? So where does this leave me? and my family? what can i expect now??? thanks so much to anyone who can reply and help me out!!! - Anna   

Posted 4/9/2005 11:17 PM (GMT 0)

Yes, this should have been picked up long before now.  Unfortunately, there are a lot of doctors out there who lack the knowlege the need about the disease.  There have been so many great things that have happened in the CF world in the last 15 years that most people just don't know.  Unfortunately, CF isn't out in the public eye like cancer or other less desirable dieases.  We just diagnosed a patient in our clinic last year that reached retirement age a few months ago.  We are finding that there are cases of CF that are going undetected, obviously for many years.

Its is true, those afflicted with CF never used to live to be in their mid 20's. Right now the median age is around 33 years of age.  Medications and treatments have come a long way and and greatly improving the lives afflicted by CF. 

As for the mutations, if you have two, you have CF.  If you have one you are a carrier. You can either have two identical mutations or two completely differnt one. There are SO many mutations.  Many that are still to be found.  There are patients that have mutations that have not been found as of yet.  They were diagnosed through sweat, and symptoms alone.

Try not to let this overtake your life.  You may have CF, but don't let it have you.  You had a normal life up until now, and though things may change somewhat for you, keep living!!  That is most important.  I would suggest going to the CF clinic and learning as much as possible.  Form a good relationship with them all, and ask lots of questions.

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