• Profile photo of scotcfmumscotcfmum
    Member
    #171205434306

    Hubby and I have three beautiful kiddos . First two are CF free and our latest addition “yes for Cf” is 6 months old and doing amazing. We had no idea we were carriers.

    Profile photo of pgog27pgog27
    Member
    #171205153371

    i dont no if it well help u much, but me and my hubby just had our 2nd child, both of us have other kid, but out first together is clean and clear of CF, out 2nd has CF hes almost 6 months and he is our pride and joy.

    Profile photo of NaomiNaomi
    Member
    #171205031254

    Johnson:

    Let me chime in here too. 2 carriers = 25% CF 50% Carrier 25% clean of mutations. Someone either mis-spoke, was misunderstood or just plain had no clue as to what they were talking about. Now if one of you have CF, what you were told would be correct.

    Bill

    Profile photo of scotcfmumscotcfmum
    Member
    #171205432123

    My husband and I have a 4 yr old and a 3 yr old without CF and a special lil 4 month old with!!! My email is Dowling.trisha@yahoo.com if u wanna chat

    Profile photo of LittleLab4CFLittleLab4CF
    Keymaster
    #171205426897

    mea culpa. What was I thinking? Being an insuferable know-it-all, with my background, seeing a genetic counselor was a passing remark by my CF specialist. It was a first time visit +/- with him and we were just getting familiar with each other. Genetic Counselors as far as I know, have no State Boards Exam, or other certifications.

    As with doctors, or any other medical profession, what you get is a matter of luck. I have paid more than one medical bills with pennies. A great example going on in “New Member” is a number of people chiming in about a particularly fantastic (CF) pancreatic specialist.

    If I had your “Genetic Counselor” experience, I probably would have paid the bill in pennies. She really DID have everything wrong! My only defense is I recommended and continually recommend that parents or patients go through an autodidactive before seeing a Genetic Counselor. Your background instantly put up a red flag and everything thereafter became suspect. She had to have gotten her patient interaction class on line. Jesus! she actually proposed termination of the pregnancy pending amio? I firmly back a woman’s choice but even when I have counselled friends on genetics or genetic testing, I would never weigh in on the issue of termination. And I have been asked more than once. The furthest I have gone is to suggest they consider looking into foundations and support groups for more insight. But your experience speaks volumes, genetic counseling requires an educated, sensitive and wise individual, for it is literally life and death issues. To that end, CF specialists are generally Pulmonologists and from my experience are winging it beyond that domain, again not all, but too many. My first run in with genetic ignorance was in going over my genetic analysis. He got it wrong, I humbly suggested the correct conclusion, he firmly stood by his conclusion and I, euphamistically, swallowed my gum. I downloaded an authoratative abstract on CF genetics, underlined where we split ways and had him read it in my follow up appointment. A few years later, I saw a different doctor at the CF clinic and he was off in the weeds on another basic genetic conclusion. My take away is, my expectation of a Genetic Counselor should be better at this than I am

    My beef is genetic disease analysis for CF, and I am finding a lot more genetic diseases, have printouts resembling a blood panel you would get back from an annual physical. And I think this Mendelian presentation is both the analytical limit and the most marketable information format. Ergo anybody who has taken a high school biology class can presume to understand. A number of posts state that if your ‘medical proffessional’ doesn’t actually have CF, they don’t know and they can never understand.

    I really would like to see what experiences CFers that have seen Genetic Counselors think. It is a great question!

    66 year old man. S1235R, 7T, 7T Polymorphism. Bronchiectasis, Exocrine PI, Small Duct Disease and intractable "pancreatic pain".

    Profile photo of kitomd21kitomd21
    Member
    #171205426896

    Just an FYI, our genetic counselor was less informative than my own knowledge base. She told us to consider abortion if our son (first born, no CF) had CF via amniocentesis. I found meeting with a genetic counselor to be of absolutely no help. Your odds are as stated above…25% CF, 25% non-carrier, 50% carrier. CF or no CF, our children would be born…a genetic counselor – IMO – can’t tell you anything more than %s. I’m jaded as they also told us that our child (if affected by CF) would have the most severe form – a scare tactic in my opinion and an absolutely 100% incorrect statement. They obviously had no clue that genotype doesn’t equal phenotype. They should have said that our child would have the most common form of CF which commonly manifests in GI and lung involvement.

    Anyone else learn more from their genetic counselor??

    Profile photo of LittleLab4CFLittleLab4CF
    Keymaster
    #171205426895

    For the record I hold a doctorate in genetics. Granted genetics parallels the exponential leaps of space science. I was 6 when Sputnik orbited our terrified country. We had the sub orbital Redstone rocket thanks to Werner Von Braun and what he recruited from the Nazi rocket team. I received my doctorate when my contemporaries were starting University. Genetics was too dynamic for textbooks in 1969. Anything except basic genetics could be useful as a book, which might be useful for a school year. Remaining current in genetics, I had a dozen very expensive perioicals and subscriptions to publication databases that catagorized and listed any and all scientific papers. Something about the time of entry altered my designs of a lifetime doing pure genetic research. We needed to invent or just build our laboratory equipment. A team of us built prototypes of all the slick looking equipment in “Abby’s Lab” in NCIS because even if the university had a mass spectrometer, there would probably only be one and you took a number with available time weeks away. I started identifying wish4 equipment and other genetic bottlenecks and spent my life in the private sector inventing for example a fair chunk of the equipment to automate the processes that were core to the human genome project. SaveFerris99 validated what I easily could have done with a simple diagram. Please understand I am just interested in helping you understand that CF specialists most likely don’t have a CF laboratory 8 feet from their bedroom. And I even slipped when I didn’t clearly state that your child and any future child must have two identical CFTR gene mutations, one from each parent to have CF. In other words your CF child might have two copies of Delta DF508. If your next child has CFTR gene mutations Delta DF508 and S1235R. Let’s say the DD508 came from mom and dad contributed the S1235R, the child will be a carrier just as you parents. This underscores the value of a genetic counselor. Whether the combined experience of 60 years of treating CF, something got lost in the translation. If I were to guess, SaveFerris99s explaining how 50% odds for anybody, maybe they were explaining if your son has a child with a CF carrier, they would have 50-50 odds of having a CF baby. If you still doubt, I suggest you Google Cystic Fibrosis and chose Wikipedia’s post. Don’t cheat, read everything and jump to everything unfamiliar. Then do the same with CFTR gene mutation including selecting Wikipedia’s ditty. Somewhere in all that are the diagram showing classic inheritance patterns. I can imagine your emotional discovery when your beautiful baby inherited CF. Maybe you can imagine my horror when you were cruelly misinformed about any future children. Why see a genetic counsellor after this time has past? An understanding of CF genetics is an invaluable tool and it promises to be a bright future. Good luck and please continue to join in. Cystic Fibrosis is much more than genetics.

    66 year old man. S1235R, 7T, 7T Polymorphism. Bronchiectasis, Exocrine PI, Small Duct Disease and intractable "pancreatic pain".

    #171205426894

    i don’t care if someone has been working with CF patients for 500 years, you don’t have a 50% chance of having a kid with CF unless one parent has CF and the other is a CF gene carrier.

    facts are facts. maybe you heard the counselor wrong

    Profile photo of jsjohnson77jsjohnson77
    Member
    #171205426893

    Little Lab it was our son’s CF specialist who informed us of the 50% and also a genetics spealist told us the same thing both have been working with CF patients for over 30 years.

    Profile photo of AllmylifeAllmylife
    Member
    #171205426892

    here is the actual link…

    <iframe width=”560″ height=”315″ src=”http://www.youtube.com/embed/zCW0nLK1K2E” frameborder=”0″ allowfullscreen></iframe>

    Profile photo of AllmylifeAllmylife
    Member
    #171205426891

    Hi there,

    We were in your exact shoes just 11 months ago. Our child did end up having CF and she is now 4 months old and doing great!!!! Here is a video that the Dallas CF chapter put together about our story. Please feel free to reach out to me if you want to talk or pick my brain. I know when I was going through it I just wanted to talk to someone that went through what we were going through. Unfotunately I was not able to find such a person that knew early on in their pregnancy. Fotunately though, I did find a great support system within the CF Family.
    If you want to reach out to me you can email me at jjscott1101@gmail.com

    http://youtu.be/zCW0nLK1K2E

    Profile photo of LittleLab4CFLittleLab4CF
    Keymaster
    #171205426890

    Jsjohnson77: If it was your doctor who told you that your next child has a 50% chance of being born with CF, read the first post and my last post. It would be good even now to see a genetic counselor. To wade a little where I shouldn’t, the classic genetic trait CF represents is Mendelian or ideal genetics. Example: both parents carry the CF gene with both male and female having one healthy gene and one defective gene in their body cells. Both parents produce eggs and sperm loaded half with the normal gene and half loaded with the defective CF gene. The CF gene mutation is recessive which means only a person with two CF genes will have CF. No other combination will cause CF. The monthly egg the mother releases for fertilization is split equally. On any month 50% cf and 50% normal are the odds. Sperm work the same way. Take two coins, one representing each parent. The coins appear normal because one side is normal the other side with the single recessive side. Join egg and sperm, flip both coins. The first observation, each time, the odds are the same. Each time a coin is flipped odds are 50-50. If we could slice each coin and lay it out, mom could contribute 1CF and one normal. Dad looks the same. There are four possible combinations with each pregnancy. Three cannot have CF, one can. The odds each time are 25% or one in four. Exactly the odds your first child had.

    If this was so simple, genetic counseling would be a waste. One thing you do know, and that is you both carry at least one CF mutation in common. Read through a lot of past posts on this forum and you will discover each person has different presentations of the disease. This is where a genetic counsellor comes in. CF initially seemed classic, genetically. Nothing could be further from reality.

    66 year old man. S1235R, 7T, 7T Polymorphism. Bronchiectasis, Exocrine PI, Small Duct Disease and intractable "pancreatic pain".

    Profile photo of jsjohnson77jsjohnson77
    Member
    #171205426889

    After our son was born and they found out that he had CF in his newborn screening we were told that if we had any more children there is a 50% chance of the child having it and obviously a. 50% chance that the child would just be a carrier. We were shocked when we found that our son had it. Neither my husband or myself knew we were carriers. After we found out we got down to business and started doing all the treatments and medicines and our son is now a very onery 6 year old boy. By looking at him you would never knew that he had CF. We are actually trying to have another one and the way we look at it if the child has CF we are more prepared and will know what needs to be done.

    Profile photo of LittleLab4CFLittleLab4CF
    Keymaster
    #171205426888

    Your basic understanding of genetics has paid off in spades. I recommend you continue reading this section of posts. As Printer noted, there are many older CFers. It is a great place to have a vicarious experience of CFers’ lives. You would be surprised at how special and rich most of our lives’ have been. We also ferret out and quickly analyze anything on the horizon. I am constantly amazed how synergistically and viral this forum works.

    So, you’re going to see a genetic counselor. I wish you could fly that on a flag. I don’t understand the widespread disconnect with doctors presuming to be qualified to play ‘GENETIC COUNSELOR’. A brand new doctor is out of date with concern to genetics, not all, but I have seen almost daily on this forum, a first timer with just enough information to be dangerous. We know, collectively evrything about CF. The genetic counselor will start where your knowledge ends. You may be totally up on CF and the CFTR gene mutation. Rather than spewing stuff you may well know, if you want a leg up; Wikipedia Cystic Fibrosis and CFTR gene mutation. You don’t need to understand codons and exons, but you might want to what they are. Heterozygous and homozygous you know and that will start the conversation higher, avoiding learning the language.

    Two thoughts, I hope and chances are good that of the 1600+ CFTR mutations you shoot and miss sharing the same mutations. This is the most hopeful time in CF medicine. CF was one of the first genetic diseases located and decoded. Already a few CFers are benefitting from a genetic replacement drug. This will become a watershed.

    66 year old man. S1235R, 7T, 7T Polymorphism. Bronchiectasis, Exocrine PI, Small Duct Disease and intractable "pancreatic pain".

    #171205426887

    I agree. Post in the family section and you will get a lot of info from the moms/dads there.

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