Rare CF, without male sterility... Need Info

[pyriah]

I lost my father to CF when I was 11. According my mother, he wasn't diagnosed until sometime in his 30's. He also fathered another child, my little brother (we're 25 and 21 years old). My dad was 38 when he passed on.All I knew when I was little was that my father was sick. I knew he had a piece of his lung removed when I was about 6 or 7. After my parents divorced when I was 4, we live a state away from eachother, so I didn't 'grow up' with him around. I never knew anything about his disease. I was fortunate to spend the last 3 years of his life getting to know him and we were very very close. Much later, I asked my mom what he had died from. I didn't know anything about CF, so in high school I started reading (I found the greatest book about a girl named Christine, it's still my favorite. Whether CF is an issue in your life or not it is a GREAT read. It's called Give Me One Wish by Jaqui Gordon. PLEASE find a copy of it, especially if you have an adolescent with CF). In the book, Christine gave an oral presentation to her class about her disease. Part of her 'lesson' stunned me... "Males with CF are sterile." According to everything I read now, the percentage of males with CF who are sterile is 98%. I didn't understand how me or my brother existed, given that new discovery.I went to the library and scoured all the health books and journals I could find, and while I found that there is a much rarer form of CF where the CF shows up later in life, it still didn't go into detail and I still don't know anything about this particular kind of CF.Now my dad's brother, my Uncle Tim (who I am very close to) has just been diagnosed. He is a father of 3 (20, 18, 16) and I'm in shock. It's pretty devastating after all these years to know that someone else in my family has to go through this. I'm not sure but I think my uncle is in his mid-to-late 40's. Also, he and my father were the only children of their generation. And now that we know they BOTH will have had it, I'm terrified about what this means for me, my brother, and my brother's 4 year old. And I'm angry. Does anyone out there know anything about this form of CF??? Sorry my post was so long. I'm new to the forum. I'll be flying home for 2 weeks tomorrow, but I will SOOO be looking forward to what I find here when I get back. Feel free to email: pyriah@comcast.netThank you everyone.

 

[pyriah]

OH I forgot. My dad and uncle also have two half-sisters, both now in thier early 40's (I think). As far as I know my aunts have never had health problems. One has 2 daughters and the other has 5 children. The youngest (a twin; the other didn't survive) was born very premature, so I know her having to use oxygen wasn't to do with CF; now that she's older she doesn't have to use it anymore. So it doesn't seem to have affected them (they had a dff't father than my dad and uncle). Which scares me even more concerning the heredity factor. And here's another scary observation... as a child, even up to high school, when I visited a doctor for whatever reason, my mother always asked if there were any chance my brother and I could 'get' CF, since our father had it. The doctors always responded, "Nah. If they had CF it would have been evident when they were much younger." This is obviously not always the case! My uncle is 40-something!

 

[Drea]

Hi,It's not really a different form of CF but rather just late diagnosis. Some people with CF are pancreatic sufficient to one degree or another so they get diagnosed with "asthma and allergies" rather than CF. To be safe you and your brother should get sweat tested AND get the genetic test that covers less common mutations. If you have a way to find out your dad and uncle's mutations that would tell them what to look for. At least it would give a starting point. May I ask if your Dad and uncle were/are both skinny or if they had trouble maintaining weight? Or did they maybe have the "bottomless pit" kind of appetite and metabolism? Those could all be signs of a lesser degree of pancreatic insufficeincy. Did either of them always have a "cold" or "sinus problems"? if so these are all signs of CF that were misdiagnosed. I have heard that at least 95% of men with CF are sterile, but that still leaves 5% who are not.If it were me I would get tested. Even if you do not have CF you would have to be at least a carrier if your parent had CF. I hope that it all works out ok.AndreaFeel free to visit our site at http://groups.msn.com/teamRachelJane

 

[anonymous]

Hi,I have a mutation that is "mild" and I have met several men online with the same mutation that have been able to have children. I have read in PubMed that men with this mutation are not always sterile. Your uncle should have a genetic test done to find out his mutations and you and your brother should also have the test done to see what mutation you inherited from your father.Tammy 43wcf

 

[anonymous]

Cystic Fibrosis is an autosomal recessive disorder and it is estimated 1/20 whites are carriers. For you to have CF your mother would also have to carry this autosomal recessive disorder. Even when both parents are carriers there offspring have a 25% chance of CF, a 25% of not having gene, and a 50% chance of being a carrier. What is so amazing to me is that there are over 900 abnormal mutations: Delta F508 - most common with a strong pulmonary (lung) component and then A455E - which has preserved pancreatic function & milder pulmonary disease. The latter could be the mutation your father and uncle have. With late diagnosis, thus untreated the liver becomes fibrotic. While most relate CF to the lungs most don't realize that CF affects ALL endocrine glands. I wish you well in your hunt for information. PS. The test to diagnose CF is painless if you decide to go this route.

 

[pyriah]

To answer about my dad and uncle's weight- my uncle has always been a HUGE guy; he would be big even if he wasn't overweight. But if he has the same syptoms as my father did, he won't be a big guy very much longer. My father was always long and lean, and all the years he was sick he was much TOO thin, and didn't have much of an appetite. He had to go on gov't disability because he didn't have the energy to hold down a job for about the last decade of his life. He always had to sleep and take lots of medications. Progressively he had to be hospitalized more and more, and had a quarter of one lung removed, about 5-6 years before he died. He was exactly like all of the CF symptoms I've ever heard of, except he did not have clubbed fingers at all, as far as my childhood memory serves. If memory serves he had to take enzymes all the time, but he had much bigger issues with his lungs than digestive functions (He was a non-smoker too). He always had trouble breathing; couged a lot; did treatments every day to clear his lungs of mucous, etc.Both had perfectly normal lives, no major health problems out of the ordinary, until some kind of heath problem arose and they were diagnosed with CF. I'm not sure yet what prompted either of them to go to a doctor and have this discovered. I haven't been able to reach my uncle yet.I know just about any basic fact about CF; I got kind of obsessed with it in high school. The info I'm looking for has to do with CF that 'lies dormant' until later in life.I read a health encyclopedia, and there was a name for this kind of CF, but I can't remember and I can't seem to find it anywhere on the web. What I can remember is... 1. the patient obviously has CF to begin with, but it 'lies dormant' until later in life. 2. No one knows if anything 'triggers' its onset. 3. males with it are usually not sterile; they have perfectly normal lives until the CF symptoms manifest.I am not sure that this 'type' of CF has to do with dff't genes, but I do remember reading and it had a specific name. I just can't find it now! Thanks everyone for all your help.

 

[pyriah]

<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i>Hi,I have a mutation that is "mild" and I have met several men online with the same mutation that have been able to have children. I have read in PubMed that men with this mutation are not always sterile. Your uncle should have a genetic test done to find out his mutations and you and your brother should also have the test done to see what mutation you inherited from your father.Tammy 43wcf<hr></blockquote>May I ask the name of this mutation so I can check it out?

 

[pyriah]

PS: I guess I mis-labeled my post... it's not as 'rare' as I thought apparently. It's just that the books I read always used the word 'rare' and 'less than 1%'. The books were new editions too (I read them 2 years ago at a library). It had a name and I've had no luck finding it. I wrote all this stuff down, but lost it when I moved.

 

[anonymous]

It's 3849 -10kb c-t.

 

[pyriah]

<blockquote>Quote<br><hr><i>Originally posted by: <b>Anonymous</b></i>It's 3849 -10kb c-t.<hr></blockquote>Thank you.

 

[anonymous]

Just a note, with today's advances in the field of infertility, there are ways around sterility in men w/cf. It is highly effective and the price is coming down as the technology becomes more widely available.

 

[anonymous]

Wow, thanks for your story. I am a 32 yr old female just diagnosed in Sept of 03. Ihave been genetically testsed and have the deltaf508 gene and one that is unidentifiable. I have 2 brothers, I have tried to convice them to get tested, but they won't because the one brother has had 3 children, he has tons of symptoms. My oldest brother is having a hard time having children. He too won't get tested,I am going to cut and paste your story into email and send it to them.Hopefully, it will convince them to get tested. It shows even men with CF can have children. I knew this but they wouldn't listen, now with your story, hopefully they will! Thanks for sharing. Angel pwcf/late diagnosis

 

[anonymous]

Don't be scared for your uncle or your siblings and cousins. From the sounds of it your uncle has a mild case of cf. Which, from talking to lots of ppl with a mild case, seems to not be so bothersom. Some have to take meds here and there and do breathign treatments just for the long run, not that they need it now. Alot of meds we take are taken because we need them now but also some treaments are also used as a maintance. A way of keeping infections away longer and to be as healthy as can be so when an infection does hit, it doesn't hit as hard. There are so many new meds out there to keep us healthy and strog. But your uncle sounds like he has a long way to go before he gets sick like your dad. You say he is 'huge' thats great. People with cf that have the most probplems tend to be way under weight. You probably know all this from your research. But i think your research is also what is scaring you. Even your most recent books from 2 years ago can now be outdated. There is a lady with cf in her mod 70s. There is a guy at my clinic over 60 and many in their 50s doing fine. Sure they have to take med and treatments but its not that bad. I think you maybe more scared because you only got to know your dad when he was sicker. Plus as a child you don't remember him when he was healthier. Just try not to be so scared and worried. All you can really do is live each day to the fullest. Love your family and spend as much time with them as you can. Everything will be ok. If they do have cf its better to know now than to know when they get sick.