I am new here and this is my first post. I would greatly appreciate some help understanding my new diagnosis. I am 31 years old. After years of my wife and I not being able to conceive we decided to get fertility help. During this process we found that I did not have a vas deferens. The doctor explained I may have a CF mutation and he ordered tests. The result came back with only one copy of a CF mutation (G542x). I have since had a successful biopsy for sperm retrieval. My wife and I have 14 embryos that we can transfer. My diagnosis is still troubling me. I am having a difficult time finding information on why with only one mutation was I sympathetic and missing my vas deferens. Do I have another mutation possible not know at this time? Will I develop lung disease? I have been healthy my entire life. No asthma, pneumonia, or any other pulmonary issues. I was tested to make sure I have both kidneys for some reason but have not had any other CF testing (sweat chloride). I gave my primary care doctor all my tests and asked if I should worry about my health long term. His response was "ONLY GOD KNOWS." No very reassuring. Has anyone every heard of a case similar to mine?
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G542X but I have CBAVD
- Thread starter dwatch
- Start date
W
welshwitch
Guest
Sorry to hear about your diagnosis! In fact many men are diagnosed with CF later in life when they have trouble conceiving! There may be some other men on here who have had a similar experience to yours. CF has a wide spectrum and there are many shades -- nothing is black and white. Hope you find some answers soon.
Has your wife been tested to see if she is a carrier, so you know if your future children could have CF? Also do you have any polymorphisms like m470v? What are your variants 5T, 6T, 7T, or 9T? You have two CF genes each of which may or may not have CF causing mutation, polymorphisms, and each gene has a variant. The 5T variant may cause variant CF symptoms. M470V is commonly associated with CBAVD.
You can ask your primary doctor to send you for a sweat test. Www.cff.org lists accredited CF centers to chose from. Other locations may do sweat tests but they are less accurate. I had to go to a children's hospital and other then feeling a little odd sitting with baby's and toddlers with our arms wrapped for the sweat test it worked fine and my insurance paid for it.
I was diagnosed with CF at 35 after my daughters genetic testing revealed one daughter had 1 mutation and the bother daughter had another mutation. PI have had CF treatments for 2 years and feel like a new and improved me.
best wishes
You can ask your primary doctor to send you for a sweat test. Www.cff.org lists accredited CF centers to chose from. Other locations may do sweat tests but they are less accurate. I had to go to a children's hospital and other then feeling a little odd sitting with baby's and toddlers with our arms wrapped for the sweat test it worked fine and my insurance paid for it.
I was diagnosed with CF at 35 after my daughters genetic testing revealed one daughter had 1 mutation and the bother daughter had another mutation. PI have had CF treatments for 2 years and feel like a new and improved me.
best wishes
I am new here and this is my first post. I would greatly appreciate some help understanding my new diagnosis. I am 31 years old. After years of my wife and I not being able to conceive we decided to get fertility help. During this process we found that I did not have a vas deferens. The doctor explained I may have a CF mutation and he ordered tests. The result came back with only one copy of a CF mutation (G542x). I have since had a successful biopsy for sperm retrieval. My wife and I have 14 embryos that we can transfer. My diagnosis is still troubling me. I am having a difficult time finding information on why with only one mutation was I sympathetic and missing my vas deferens. Do I have another mutation possible not know at this time? Will I develop lung disease? I have been healthy my entire life. No asthma, pneumonia, or any other pulmonary issues. I was tested to make sure I have both kidneys for some reason but have not had any other CF testing (sweat chloride). I gave my primary care doctor all my tests and asked if I should worry about my health long term. His response was "ONLY GOD KNOWS." No very reassuring. Has anyone every heard of a case similar to mine?
LittleLab4CF
Super Moderator
“Only God Knows”, maybe for the moment very few people “know” but results are preliminary. I can attempt to explain some of the issues that influence what we know and what we don’t know about CF genetics.
To understand Cystic Fibrosis (CF) from soup to nuts, I suggest a couple of internet sites. Wikipedia has a well written description of CF and well written definition of terms and concepts that one can click on and read when something needs clarification. Some terminology like Cystic Fibrosis Transmembrane electrolyte Regulation (CFTR) gene and CFTR gene mutations seem nonsensical, and in fact are. It may be confusing but a properly working CFTR gene is the name scientists ended up giving to what is both a disease and a functioning gene. The CFTR gene turns on in certain cells. Any mucus gland, sweat gland and a lot of our mucosal epithelia have this gene turned on.
The CFTR gene is in every cell in our body and cells that specialize in producing mucus, which is everything from tears to saliva to protective epithelial cells in our lungs, pancreas, liver, GI Tract, ears, nose and seminal fluid or cervical mucus. If one or both CFTR genes we have in each and every cell, excepting eggs and sperm, is functioning correctly, we should NOT have any CF issues. The idea is old and we no longer divide people strictly as non-symptomatic carriers, if by chance they only show one mutation. The idea was sound, with two correct CFTR genes, there is no disease and if there is only one mutation, the other should easily cover for any inadequacies.
This was true in the beginning when the CFTR gene was discovered and decoded back in 1989. They also believed that there was only one CFTR gene mutation, D508F if I remember right. CF was a near perfect genetic condition to study and its suitability for research had more to do with advances in CF genetics than the suffering of 100,000 people. We hung on the idea that CF was a single gene disease, or mono-genetic disorder, something almost unheard of in mammalian genetics let alone human genetics. It seems a lot of our genes are still pretty fickle.
Scientists had to start with certain beliefs or assumptions and one was that it was an autosomal recessive disease. In other words, genetically speaking, we were pea plants with simple Mendelian Genetics of dominant and recessive genetic characteristics. With the pea plant model, Wikipedia goes through the matrix of inheritance. For most people who have been tested for CF, having a double copy of the same mutation means CF. There are twin studies that show exceptions and there are many siblings who are genetically identical in terms of CFTR profiles but one is symptom free while the other is ravaged by the disease.
We don’t usually consider this but many carriers are discovered because they have issues that raise the suspicion of CF. Many times they display CF in a more specialized way, like pancreatitis and GI issues dominant over pulmonary issues.
I was diagnosed at age 52 via sweat chloride test and then later declared a carrier with my single gene mutation. And later declared atypical CF. For many people, a repeated test that covers all ~1900 mutations will reveal a second mutation, located on the other chromosome. The combinations of mutations is massive and not practical to test each possible mutation set. In my case, the single mutation S1235R has been established as disruptive to the other CFTR gene. I have great lungs for a CFer but I doubt many would enjoy how life is for me below the diaphragm. I have one vas deferens completely missing and the other pinched shut somewhere between ages 25 and 30.
I would guess that you probably aren’t going to develop anything new. With your CAVD issue it is safe to assume you have tiny duct syndrome. From your Eustachian tubes to small sinus opening, a small urethra, extra small ureters and possibly gastritis, IBS and maybe a mysterious pain high in your back between the shoulder blades. You may have gallbladder problems, sluggish bile or stones and your pancreas could be inadequate to some degree.
In my case they call it “atypical CF” and though I’ve discussed changing the diagnosis to Cystic fibrosis Related Metabolic Syndrome or CRMS. More and more symptomatic carriers are being placed in this watch group. Doctors now understand that carriers may develop CF issues and all the bad genes are NOT only bad in pairs.
Everytime something new is dumped on a population, many don’t like the idea. CRMS almost seemed inevitable because CF genetics is proving to be more complicated than was first anticipated. And with the advent of Kalydeco, and other truly genetic drugs for treating CF, doctors and patients need to be straight on their genetics. Medical genetics is sexy and has been a long time for a relatively new science. Sexy things often get much more attention than it should. I for one, would like almost any other name that "test" applied to a genetic assay because we are conditioned to associate greater importance to a test than running an assay. We are conditioned to do good on tests, how do you define a good genetic test? Define a good sweat chloride test? Another word is needed, test isn't it.
I am certain others have suggested a full CFTR gene mutation analysis and this could give you more answers. It won’t change you but it will give you a much better sense of your future than checking in with God. So far all my calls to God have yet to be returned. Learn more about CF and if you are prone to head infections, sinusitis, sore throat, ears or your GI tract is being a problem where Irritable Bowel Syndrome (IBS), Crones Disease, gastritis, floating oily, foul smelling stools or such, see a CF specialist. CF isn't just a pulmonary disease although lung problems are more deadly quicker than most other CF problems. Still for many it is liver failure or kidney failure from a lifetime of infections, toxins and antibiotic battles.
Hope that helps answer your question,
LL
To understand Cystic Fibrosis (CF) from soup to nuts, I suggest a couple of internet sites. Wikipedia has a well written description of CF and well written definition of terms and concepts that one can click on and read when something needs clarification. Some terminology like Cystic Fibrosis Transmembrane electrolyte Regulation (CFTR) gene and CFTR gene mutations seem nonsensical, and in fact are. It may be confusing but a properly working CFTR gene is the name scientists ended up giving to what is both a disease and a functioning gene. The CFTR gene turns on in certain cells. Any mucus gland, sweat gland and a lot of our mucosal epithelia have this gene turned on.
The CFTR gene is in every cell in our body and cells that specialize in producing mucus, which is everything from tears to saliva to protective epithelial cells in our lungs, pancreas, liver, GI Tract, ears, nose and seminal fluid or cervical mucus. If one or both CFTR genes we have in each and every cell, excepting eggs and sperm, is functioning correctly, we should NOT have any CF issues. The idea is old and we no longer divide people strictly as non-symptomatic carriers, if by chance they only show one mutation. The idea was sound, with two correct CFTR genes, there is no disease and if there is only one mutation, the other should easily cover for any inadequacies.
This was true in the beginning when the CFTR gene was discovered and decoded back in 1989. They also believed that there was only one CFTR gene mutation, D508F if I remember right. CF was a near perfect genetic condition to study and its suitability for research had more to do with advances in CF genetics than the suffering of 100,000 people. We hung on the idea that CF was a single gene disease, or mono-genetic disorder, something almost unheard of in mammalian genetics let alone human genetics. It seems a lot of our genes are still pretty fickle.
Scientists had to start with certain beliefs or assumptions and one was that it was an autosomal recessive disease. In other words, genetically speaking, we were pea plants with simple Mendelian Genetics of dominant and recessive genetic characteristics. With the pea plant model, Wikipedia goes through the matrix of inheritance. For most people who have been tested for CF, having a double copy of the same mutation means CF. There are twin studies that show exceptions and there are many siblings who are genetically identical in terms of CFTR profiles but one is symptom free while the other is ravaged by the disease.
We don’t usually consider this but many carriers are discovered because they have issues that raise the suspicion of CF. Many times they display CF in a more specialized way, like pancreatitis and GI issues dominant over pulmonary issues.
I was diagnosed at age 52 via sweat chloride test and then later declared a carrier with my single gene mutation. And later declared atypical CF. For many people, a repeated test that covers all ~1900 mutations will reveal a second mutation, located on the other chromosome. The combinations of mutations is massive and not practical to test each possible mutation set. In my case, the single mutation S1235R has been established as disruptive to the other CFTR gene. I have great lungs for a CFer but I doubt many would enjoy how life is for me below the diaphragm. I have one vas deferens completely missing and the other pinched shut somewhere between ages 25 and 30.
I would guess that you probably aren’t going to develop anything new. With your CAVD issue it is safe to assume you have tiny duct syndrome. From your Eustachian tubes to small sinus opening, a small urethra, extra small ureters and possibly gastritis, IBS and maybe a mysterious pain high in your back between the shoulder blades. You may have gallbladder problems, sluggish bile or stones and your pancreas could be inadequate to some degree.
In my case they call it “atypical CF” and though I’ve discussed changing the diagnosis to Cystic fibrosis Related Metabolic Syndrome or CRMS. More and more symptomatic carriers are being placed in this watch group. Doctors now understand that carriers may develop CF issues and all the bad genes are NOT only bad in pairs.
Everytime something new is dumped on a population, many don’t like the idea. CRMS almost seemed inevitable because CF genetics is proving to be more complicated than was first anticipated. And with the advent of Kalydeco, and other truly genetic drugs for treating CF, doctors and patients need to be straight on their genetics. Medical genetics is sexy and has been a long time for a relatively new science. Sexy things often get much more attention than it should. I for one, would like almost any other name that "test" applied to a genetic assay because we are conditioned to associate greater importance to a test than running an assay. We are conditioned to do good on tests, how do you define a good genetic test? Define a good sweat chloride test? Another word is needed, test isn't it.
I am certain others have suggested a full CFTR gene mutation analysis and this could give you more answers. It won’t change you but it will give you a much better sense of your future than checking in with God. So far all my calls to God have yet to be returned. Learn more about CF and if you are prone to head infections, sinusitis, sore throat, ears or your GI tract is being a problem where Irritable Bowel Syndrome (IBS), Crones Disease, gastritis, floating oily, foul smelling stools or such, see a CF specialist. CF isn't just a pulmonary disease although lung problems are more deadly quicker than most other CF problems. Still for many it is liver failure or kidney failure from a lifetime of infections, toxins and antibiotic battles.
Hope that helps answer your question,
LL