Newly diagnosed

[Rob9874]

I'm a 31 year old male, and I was just diagnosed with CF. Well, officially tomorrow at my dr. appt. I had a fertility test done last month, as my wife and I were having problems getting pregnant. Long story short, we found out I have CBAVD, and the urologist wanted to check to see if I'm a CF carrier. His exact words were "Don't worry, you don't have it, and you can't get it." I've never had any respitory problems, nor trouble gaining weight (I'm 6'0" 250lbs), so I thought I would be a carrier at worst. However, when I started researching online, I noticed that I do have many of the symptoms. Mainly, salty sweat. I live in AZ, and if I'm outdoors in the summer too long, salt will build up on my skin. I also overheat easily, and have since I was a kid. In 2003, I had to have my gall bladder removed.

The receptionist called and said the blood work results were back, and there were mutations (plural), but that she wasn't comfortable talking about it, so we're meeting with the doc tomorrow to hear the official results. I'm prepared for the worst. It's been a sobering experience doing all the research, and reading these boards (especially the remark about the "results are always the same" in the Progression thread).

I'll post back tomorrow when I get the official results. Looking forward to joining the community to help me cope with this.

 

[CowTown]

Hi Rob,

I'm sorry to hear that you will officially be diagnosed tomorrow. As I'm sure you will find, you may find many answers to your questions on this site. There is always a lot to learn and the learning never seems to end.

I can't imagine finding out such a thing at 31, I was diagnosed at 1 year. I'm sure a lot of people here will be able to help you cope with it! Also, stay open with your family as much as possible, because I've found that a support team, whether it's just a few close people or more, help a tremendous deal.

Good luck at your appointment tomorrow.

 

[JennifersHope]

Hey Rob,

Welcome to this website. I am 33 and was dx with CF at 29. I want you to know that if you are 31 and never have had a lung infection, really you are doing great.

My doctor told me that he has had patients who were only diagnoised by BAVD as well. They are doing fine, never sick and live full and normal lives.

Not everyone ever all does the same thing with this disease that is not true. Most people who have CF do, but not all.

You sound like you are in great shape. I can imagine how overwhelmed you must be. Most people who have CF suffer their whole life with all types of lung infections, pancreatic insuff, and are in and out of the hosptial. Don't think because now that you are dx, all of a sudden you are going to get sick.

Hang in there,

Good luck, keep posting, and try to remember you have always been healthy....

Jennifer

 

[Rob9874]

Thanks Jennifer. You live up to your name's sake. <img src="i/expressions/face-icon-small-smile.gif" border="0"> I'm hoping to get similar hope from the doc, but he's a urologist, and I'm sure will leave the details up to the CF center. I want to hope it's isolated to the BAVD, but I don't want to be in denial either. I have been wondering when I'll take a turn for the worse. I keep telling myself that I've been living with it since birth, and the dx doesn't change anything (except now I can monitor and treat it).

 

[JennifersHope]

I can imagine how stressed you are. I remember when the doctor told me the thought I had it, I was treated with enzymes first, way before I was sweat tested... I kept thinking this is nuts... No way.. I don't have it.. That is a kid disease...I still didn't believe it for a long time, and even now, I still think they are wrong sometimes.

I thought it was just another test they were going to rule out.. For years they just kept testing me for HIV and TB. Over and Over again... DUH them......

But I was sick my whole life.. I didn't just get sick all of a sudden.. I don't have a lot of lung damage probably because of the high dose of steroids I take for for another disease.. but really. If you have CF it is in your whole body, but, your only symptom that you might manifest is infertility. I have heard of that...

Please keep us updated.. you will find lot of loving and supportive people here.

Jennifer

 

[marcijo]

Hi Rob-
I wasn't diagnosed until I was 20, and they say I have a "mild"case of CF. I agree, if you are just being diagnosed now and haven't had a lung infection-you are doing great! Hang in there, you will make it through this! Let us know what happens at your appt tomorrow.

 

[anonymous]

yes if you have CF, it is good to have the dx. much much much better than having it and not knowing that you do.

to be in the great shape you are now at your age AND then to be able to recognize and treat anything that MIGHT come up in the future right away without spending years and years trying to figure out why you have whatever comes up. These things really really make the world of difference to health, longevity, quality of life, everything.

Hang in there. I imagine you are having a truly tough night.
But you are absolutely right. Nothing has changed except that now you have the information and the team behind you if you need it.


-lisav

 

[thelizardqueen]

You know what, that's awesome that you've gone 31 years and not had any problems. The fact that you will get treatment will make you even more healthier! I know that its a shock, and you will learn so much, but it will get easier with time. Just because you are now being diagnosed doesn't mean that this is the end for you - you've gone 31 years undiagnosed - great for you! No health problems yet.

Let us know how it goes.

 

[anonymous]

You are so lucky!!!! Just think of all the CFers who have struggled with this since birth!!! And are sick continuously! I think they should call it something else since it's not really 'CF' like so many of us struggle with on a daily basis. I would love to have lived to 31 and then been told I had CF, instead I've struggled since birth!!!! You are really lucky.

 

[thelizardqueen]

They can call it CF, but I don't think that they should say its a childhood disease.

 

[Rob9874]

OK, back from the doctor. Everything I read about "isolated CBAVD" (CF that only affects the vas deferens and nothing else) says that the mutation pair is usually F508 & R117H. The R117H is Class 4, and becomes the dominant mutation, over the more severe F508. The good news is, that is the pair that I have. However, the doc (infertility doctor) told me "You don't have CF!" I thought anytime you had more than one mutation, you have CF. I read a few people on this board say that they were diagnosed with CF, and have the mutations F508/R117H.

I asked him about it, and he kept saying "You don't have it." He said I'm a carrier, but I don't have CF. I understand the strategy to avoid calling it CF, as I probably won't develop the classic symptoms (God willing). However, I still have questions: Does the fact that I have 2 mutations mean that both my parents are at least carriers? Is there a small chance I will develop classic problems as the disease progresses? Should I see a CF specialist?

I asked him if my parents should get tested for CF, and he laughed and said that if they had CF they'd be dead by now. He went on to explain (his understanding of) CF, and how it's diagnosed in childhood, and most don't make it to adulthood, and my parents wouldn't survive into their 50's if they had CF. I told him I had read many cases online (he must hate internet education stories) of people who were diagnosed as adults, with no previous symptoms, and the disease progressed later in life. And he told me he's never heard of that. So that made me question his knowledge about CF.

Finally, I asked for a copy of the genetic report, and it reads, "Compound Heterozygous for the mutations: Delta F508 and R117H, no 5T. DNA testing indicates this individual has two mutations in the cystic fibrosis gene, consistent with being affected with CF, although the severity of symptoms cannot be predicted. If this result is obtained on a healthy individual, additional studies and/or consultation with a CF specialist may be warranted." So, I don't understand out of that report, where he got that I do not have CF.

So on the one hand, I'm glad my mutation pair is what it is. Everything I've read said it's likely there will be no more symptoms. However, I want to have a more conclusive understanding of what my mutations mean. Guess I should call a CF center. Anyone have any insight?

 

[JennifersHope]

Gosh Rob,

I don't have a clue. Everything that I have learned was if you have two genes you have CF period. Many people might argue with that but as far as I know, CF is diagnoised by sweat test and or gene mutations. Two mutations equal CF or a positive sweat test.

If I were you, I would go to a CF center, they are the experts, they know this disease way better then a regular doctor and could probably help guide you.

Like I said, my CF doctor told me some people with mild forms of CF only ever have CBAVD.. and (please no one yell at me about saying mild, it is what my doctor said) and he said they never get any more symptoms then that. I have never met anyone that just had those symptoms so I can't say personally.

I am not the expert in this area.. by any stretch. Just wanted to say.. I am glad you posted I was thinking about you and your wife today.


Jennifer

 

[anonymous]

Hi Rob,

Well, it sounds to me like the infertility doctor is a little sparse on his knowledge of CF. I would make an appt. at a CF center right away just so you can be properly diagnosed, if you do have CF. I have always thought that if you have 2 gene mutations, you have CF. By the way, your mutations are the same as mine, DeltaF508 and R117H! I was diagnosed when I was 20, but I do have mild lung involvement and no pancreatic issues. Another member of this board has 2 children that have the same gene mutation also.

I think the doctor you saw is a bit ignorant of CF....I have seen a few doctors this way. One time I went to an appt with my husband and when we told his doctor that I had CF, he looked at me like I was crazy, since I guess I don't "fit" the typical CF stereotype. He thought it was really strange and told me that it was a "childhood disease" - it was actually kind of scary about how much he didn't know, and he is a doctor!

So, I would get into a CF center, they are the best people to deal with, they can diagnose you for sure, and they know exactly what you are dealing with. Good luck!

Marci
31 w/CF

 

[anonymous]

It is confusing...

<a target=_blank class=ftalternatingbarlinklarge href="http://adc.bmjjournals.com/cgi/content/full/88/10/886">http://adc.bmjjournals.com/cgi/content/full/88/10/886</a> .
<a target=_blank class=ftalternatingbarlinklarge href="http://pediatrics.aappublications.org/cgi/content/full/103/4/823">http://pediatrics.aappublicati...content/full/103/4/823</a> .
<a target=_blank class=ftalternatingbarlinklarge href="http://www.chestjournal.org/cgi/content/full/126/4/1215
">http://www.chestjournal.org/cg...ntent/full/126/4/1215
</a>
Definately a consult with a really good CF center, I'd say.

 

[Rob9874]

Thanks guys. I will call a CF center this week. I found this online, which is encouraging (but I'll still follow up): "CBAVD is, in most cases, considered to be a mild CF-related disease. Of the men identified to have CBAVD and not show signs of CF, 85% of them have one mild mutation and one severe mutation. This means that the mild mutation is dominant, and thus there are very few "hallmark" symptoms of CF; most often CBAVD is the only symptom."

 

[anonymous]

In reference to the statement:<b>This means that the mild mutation is dominant, and thus there are very few "hallmark" symptoms of CF; most often CBAVD is the only symptom." </b>

I hope for you this is true. My cousin was diagnosed with CBAVD when he was 40. Although he was told this is usually a sign of CF he was not diagnosed with it at that time. They did test him but only one gene was present and since his health was good except for some asthma symptoms he was considered only a carrier of CF. He also had several sweat tests in the normal range. 4 years later he was tested again because his asthma was not responding to treatment. This later testing, which was then expanded to include more CF mutations revealed that he did have CF as they now found the second gene and a sputum culture showed he had psuedomonas and micro avium absessus. It is important for you to be evaluated by a CF physician.

 

[julie]

Welcome to the site Rob. I don't have any words of wisdome for you or anything... just wanted to say I wish you and your wife well with the test results tomorrow and pray for strength for both of you.

I do think what you found about the CBAVD is interesting because 96-98% of men with CF (regardless of the mutation, although some-can't remember which ones they all are, but Delta F508 for sure- mutations are directly linked to CBAVD) have CBAVD. It would appear that in your case the CF is mild, but as others have said (and forgive me, I haven't read through all the posts) you should get yourself into a CF center, have a sputum culture done, a chest x ray (just to be sure of any possible damage, even if you've had "no problems" and get a baseline x ray).

Anyways, welcome to the site and I just have to throw this in there as well... there is still hope for children if you and your wife decide that's what you want.

My husband has CBAVD and we just went though IVF. We're very pregnant (triplets) but are finally having a baby!! If you need some information, I have a site all about it and my husband is happy to talk to anyone with questions.

 

[Alyssa]

Hi Rob,

I'm the mother that Marci talked about with two kids who have the same mutations as you and Marci.

I really like what everyone else has already told you -- I agree, the first doc has limited/outdated information and you really should be seen at a CF clinic just for good follow up and better information.

About you parents having CF -- probably not, most likely they each have one of the genes that you have. That is how it works most of the time, there are some strange, rare cases of different things happening but most likely they are carriers, having one gene each and you got them both. If you go to a CF clinic, they will most likely sent you to genetic counseling and it will all be explained to you in more detail.

As for the question of does two mutations equal CF -- our CF doc has gone round and round with other CF docs about this very question -- here is what he said to us. In order to put a diagnosis on someone, you have to have both things -- positive test (sweat test or 2 gene mutations) <b>AND </b>symptoms. Some of his colleagues agreed with this, some did not -- some CF doctors said that with just the two mutations you could call it CF. The doctor has now settled on calling both my kids "mild variant, A-typical CF" in fact I have noticed on the chart notes for my son the doctor says:
....with current diagnosis of atypical cystic fibrosis based on sibling screen, two CFTR mutations (albeit one not always disease causing) R117H-7T.

I have typed out more information about how and when my kids were diagnosed on my blog, the link is in my signature line. They were not diagnosed until their teens years and are still very healthy. Feel free to email me if you wish.

 

[Faust]

I'm sorry to hear it bro. Of course there might be a chance you don't have CF, and your problem can be related to another exocrin type disease/dysfunction, but more than likely it sounds like you have it, and you have been fortunate enough till now to be able to get by without being an official CF patient. If you have made it this far, theres a good chance you can live out your life without CF being a huge factor in your longevity. You could possibly live to be 80 years old, who knows. But if you are 100% diagnosed with the disease, all you will have to do is be more aware of your situation, treat yourself appropriately, and comply with the medications and clearance you will need to do, and you could live for a very very long time from now.

Be thankful (if you do have it 100%) that your mutations are extremely the better ones to have, but don't go into denial. Live with it, deal with it, and accomodate it like an annoying house guest that can't leave. You will be fine man.

CF sometimes creeps up on people when they are in their 20's, or 30's. I'm 35 and i'm one of the more "normal" cf's in general. CF isn't a total doom and gloom sentence. With proper care, luck, and support, you can live a pretty full life with it.


Farther into the future, newly diagnosed patients with CF (younguns) will look at CF like a chronic, annoying, yet not too serious health issue to deal with on a maintenance level (like say easy diabetes). It's almost to this point now.

 

[dyza]

when you say 5T with the gene , I think that is what they call a 'trigger gene', 5T, if I remember- its starting to come back to me now- generally causes pancreatic problems.The doctor may not be far of the mark with your dx, I have two genes, they are Identical with 9T, my doctor {CF doctor} says you could dx it as CFTR disfunction. I go back the end of May to get the results of various tests, and I have so many questions to ask now, it may be along appointment. Incidently I am 39, this only came to light because of my sons dx. Never had any symptoms and I smoked for 21 years. Good luck.