I'm not sure if our insurance covers other enzymes. Our insurance has tiers so for generics we pay 10 percent. So for a lot of things like antibiotics we only pay like 50 cents. Then for brand names I think it's 20 percent. The Zenpep without insurance was close to 3000 dollars, but our copay would be a little over 300 from what the pharmacist said. The insurance is covering it. The problem is with the live2thrive program they will only pay the copay if it's less than 330 pills from what the pharmacist said although I don't know why. He's take the lipase 15000 capsules and right now is supposed to take 3 with each meal and 1 with a snack. I'm not sure if that will change since his results our back now. I was thinking maybe they just want the dosage to be increased so that it's less capsules. Taking 3 15000 capsules would be 45000 of lipase, but if they changed him to the 25000 lipase and he took 2 capsules it would be 50000 with meals, and he would need less capsules. I was just wondering if anyone else had had this problem. It was too late for me to call the clinic, or the live2thrive program by the time the pharmacist told me all of this. The live2thrive program seems nice though because every month they will send you your choice of adek vitamins for free, vitamin d 3, and your choice of nutritional supplements like scandishake or boost, and it makes our copay only 40 dollars so that would be just fine with me. Hopefully it will all get straightened out in the morning.
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12 year old just diagnosed
- Thread starter Sunny9432
- Start date
Thank you! Yes it seems to be one thing after another right now, and really worries me that his disease is progressing. I hope they find out what is going on with your child soon. I saw that you were still waiting for a diagnosis. I really hope for you and her that it is something more easily treated than cf and not lifelong illness. I do understand just wanting the right diagnosis whatever it may be, so that your child can get the right treatment.
Aboveallislove
Super Moderator
I'm sorry if I missed it, but one thought I had: If the ER started your son on an antibiotic, you should make sure to cross check with the CF clinic b/c they usually give higher/longer doses for antibiotics and also will want to make sure it is one to work on whatever he cultured. Our cliinic's practice is if you go to your GP or an urgent care place that the doctor is to call and coordinate the antibiotic to make sure it is appropriate type, dose, etc.
LittleLab4CF
Super Moderator
Sunny 9432,
I hope that I didn't offend you. I appreciate your time taken to clarify a lot of issues CFers and the parents of CFers face. You are going to do great with your new challenges. In my experience, the warning about taking too much has the unintended consequence of being under treated. A question you asked in one of your replies is a great one.
What is the process of a pancreas die off? It took about 58 years for my pancreas to become totally PI. I began to feel pancreatic pain in my 40's. My inability to gain weight is life long so I was having problems as an infant. I'm hyperactive but I ate well. His gallbladder should be watched for thickened bile and stones. A gallstone can get stuck and cause damage to the pancreas and/or the liver and gallbladder.
CF comes down to thick mucus. If your son is partially PI, his digestive cocktail could be thickened to the point where it doesn't move out of the pancreas to the sphincter of Oddi, located in the duodenum. Often it's a case of messed up timing. The food is ground up and reduced to chyme by the stomach. Chyme is the consistency of toothpaste or pablum, and when it enters the duodenum, it's supposed to be met by enzymes and bile. I discovered that the enzyme cocktail I was producing was so viscous that it wasn't leaving the pancreas as I was building up to a CF diagnosis. The mucus intended to carry the sodium bicarbonate and pancrealipase to the duodenum was immobile. The old test, a pancreatic function test was done on me in 2001. The pancreas was stimulated by the hormone secretin, and the digestive juices were drawn out with a huge 2 hp vacuum pump into a very optimistic looking 4 liter flask. An hour of teasing the thickest liquid I have ever seen from a body at body temperature barely covered the bottom of the flask. I kept some. It was absolutely solid at room temperature. According to Beth Israel Deaconess Center, I had the North American record for BAD on this test.
Some things to watch out for involves pain. Kidney stones, we need extremely good hydration, including electrolytes. Gallstones. It breaks my heart to see young CF kids dealing with thick, gooey bile, and the pain that goes with gallstones and thickened bile. Our pancreas dies as a result of pancreatic auto-digestion. You got it, part of his protein could be coming from digesting his own pancreas. Chronic pancreatitis with acute attacks are not uncommon in GI dominant CF. Usually (66%) when the pancreas atrophies, the pain diminishes or completely goes away. The rest can have the pain of a live pancreas for reasons unknown. Pancreatic atrophy happens very quickly in some, usually in the first months-year. It might take a year, decade or decades for the pancreas to atrophy.
These are referred pain issues. People complain of a burp/belch that is "stuck" and extremely painful, maybe call it heartburn but it could be a gallbladder attack or pancreatic attack. Pain between the shoulder blades. This can be either the gallbladder or pancreas, usually a deep burning "hole" from around T5 towards the heart. Lung pain can be felt in the bronchi, but that is usually the bronchial tubes complaining. Lung pain is felt in the ribs or also referred to the back.
As a Hospice nurse, you face stuff on a daily basis that should send the uninitiated running to a counselor. I really wasn't giving you enough credit.
Mea Culpa. This site is a great place to find good information, vent when you have nobody to vent to and many kind hearts.
LL
I hope that I didn't offend you. I appreciate your time taken to clarify a lot of issues CFers and the parents of CFers face. You are going to do great with your new challenges. In my experience, the warning about taking too much has the unintended consequence of being under treated. A question you asked in one of your replies is a great one.
What is the process of a pancreas die off? It took about 58 years for my pancreas to become totally PI. I began to feel pancreatic pain in my 40's. My inability to gain weight is life long so I was having problems as an infant. I'm hyperactive but I ate well. His gallbladder should be watched for thickened bile and stones. A gallstone can get stuck and cause damage to the pancreas and/or the liver and gallbladder.
CF comes down to thick mucus. If your son is partially PI, his digestive cocktail could be thickened to the point where it doesn't move out of the pancreas to the sphincter of Oddi, located in the duodenum. Often it's a case of messed up timing. The food is ground up and reduced to chyme by the stomach. Chyme is the consistency of toothpaste or pablum, and when it enters the duodenum, it's supposed to be met by enzymes and bile. I discovered that the enzyme cocktail I was producing was so viscous that it wasn't leaving the pancreas as I was building up to a CF diagnosis. The mucus intended to carry the sodium bicarbonate and pancrealipase to the duodenum was immobile. The old test, a pancreatic function test was done on me in 2001. The pancreas was stimulated by the hormone secretin, and the digestive juices were drawn out with a huge 2 hp vacuum pump into a very optimistic looking 4 liter flask. An hour of teasing the thickest liquid I have ever seen from a body at body temperature barely covered the bottom of the flask. I kept some. It was absolutely solid at room temperature. According to Beth Israel Deaconess Center, I had the North American record for BAD on this test.
Some things to watch out for involves pain. Kidney stones, we need extremely good hydration, including electrolytes. Gallstones. It breaks my heart to see young CF kids dealing with thick, gooey bile, and the pain that goes with gallstones and thickened bile. Our pancreas dies as a result of pancreatic auto-digestion. You got it, part of his protein could be coming from digesting his own pancreas. Chronic pancreatitis with acute attacks are not uncommon in GI dominant CF. Usually (66%) when the pancreas atrophies, the pain diminishes or completely goes away. The rest can have the pain of a live pancreas for reasons unknown. Pancreatic atrophy happens very quickly in some, usually in the first months-year. It might take a year, decade or decades for the pancreas to atrophy.
These are referred pain issues. People complain of a burp/belch that is "stuck" and extremely painful, maybe call it heartburn but it could be a gallbladder attack or pancreatic attack. Pain between the shoulder blades. This can be either the gallbladder or pancreas, usually a deep burning "hole" from around T5 towards the heart. Lung pain can be felt in the bronchi, but that is usually the bronchial tubes complaining. Lung pain is felt in the ribs or also referred to the back.
As a Hospice nurse, you face stuff on a daily basis that should send the uninitiated running to a counselor. I really wasn't giving you enough credit.
Mea Culpa. This site is a great place to find good information, vent when you have nobody to vent to and many kind hearts.
LL
Thank you! The clinic wasn't open on Sunday, but I called them the next morning and let them know what was going on and what he was started on. They said the treatment was appropriate when I talked to them, but later I talked to the NP, and she said they got his sputum culture back and will be starting him on inhaled abt at his appt today. I didn't ask what he grew. She said we would talk about it at appt, so I figured I'd just find out then.
Thank you so much for sharing this with me. I know there is no way to know for sure what the course of a specific person's illness will be, since there are so many factors involved. Our son's stories do sound pretty similar though. It's nice for me to hear of other people diagnosed later in childhood that weren't so much worse off for it. Sometimes I worry that the late diagnosis and late treatment may have allowed a lot of damage to occur that wouldn't have if he had been treated all his life. The thought of losing my son really terrifies me. I know they have made great improvements in treatments, but I see so often on groups and pages about people dying so young. I try not to think about that too much though. I'm going to share your son's story with my son. Obviously he doesn't know anyone else going through what he is going through. He seems to be taking it all so well, but he is an almost 13 year old boy, probably not in the group that would be most open about sharing their feelings with their Mom or anyone really. He's doing great so far with taking his medications without complaint, so hopefully that will last. I'm glad to hear your son is doing so well and I hope that does continue.
Sunny:
I was dx at age 47. At age 59 I coughed up blood and went to the ER, where the Doctor told me that I was too old to have CF. We actually fought, when I told him to call the Dr who dx me (the head of the CF dept at Bostn Children's Hospital) he walked out of the room, never to be seen again.
Two CF truths that I learned, don't be concerned unless son produces a cup full of blood. Second, when in a need for a ER drive to the nearest hospital that has an Approved CF Clinic.
Bill
I was dx at age 47. At age 59 I coughed up blood and went to the ER, where the Doctor told me that I was too old to have CF. We actually fought, when I told him to call the Dr who dx me (the head of the CF dept at Bostn Children's Hospital) he walked out of the room, never to be seen again.
Two CF truths that I learned, don't be concerned unless son produces a cup full of blood. Second, when in a need for a ER drive to the nearest hospital that has an Approved CF Clinic.
Bill
Sunny 9432,
I hope that I didn't offend you. I appreciate your time taken to clarify a lot of issues CFers and the parents of CFers face. You are going to do great with your new challenges. In my experience, the warning about taking too much has the unintended consequence of being under treated. A question you asked in one of your replies is a great one.
What is the process of a pancreas die off? It took about 58 years for my pancreas to become totally PI. I began to feel pancreatic pain in my 40's. My inability to gain weight is life long so I was having problems as an infant. I'm hyperactive but I ate well. His gallbladder should be watched for thickened bile and stones. A gallstone can get stuck and cause damage to the pancreas and/or the liver and gallbladder.
CF comes down to thick mucus. If your son is partially PI, his digestive cocktail could be thickened to the point where it doesn't move out of the pancreas to the sphincter of Oddi, located in the duodenum. Often it's a case of messed up timing. The food is ground up and reduced to chyme by the stomach. Chyme is the consistency of toothpaste or pablum, and when it enters the duodenum, it's supposed to be met by enzymes and bile. I discovered that the enzyme cocktail I was producing was so viscous that it wasn't leaving the pancreas as I was building up to a CF diagnosis. The mucus intended to carry the sodium bicarbonate and pancrealipase to the duodenum was immobile. The old test, a pancreatic function test was done on me in 2001. The pancreas was stimulated by the hormone secretin, and the digestive juices were drawn out with a huge 2 hp vacuum pump into a very optimistic looking 4 liter flask. An hour of teasing the thickest liquid I have ever seen from a body at body temperature barely covered the bottom of the flask. I kept some. It was absolutely solid at room temperature. According to Beth Israel Deaconess Center, I had the North American record for BAD on this test.
Some things to watch out for involves pain. Kidney stones, we need extremely good hydration, including electrolytes. Gallstones. It breaks my heart to see young CF kids dealing with thick, gooey bile, and the pain that goes with gallstones and thickened bile. Our pancreas dies as a result of pancreatic auto-digestion. You got it, part of his protein could be coming from digesting his own pancreas. Chronic pancreatitis with acute attacks are not uncommon in GI dominant CF. Usually (66%) when the pancreas atrophies, the pain diminishes or completely goes away. The rest can have the pain of a live pancreas for reasons unknown. Pancreatic atrophy happens very quickly in some, usually in the first months-year. It might take a year, decade or decades for the pancreas to atrophy.
These are referred pain issues. People complain of a burp/belch that is "stuck" and extremely painful, maybe call it heartburn but it could be a gallbladder attack or pancreatic attack. Pain between the shoulder blades. This can be either the gallbladder or pancreas, usually a deep burning "hole" from around T5 towards the heart. Lung pain can be felt in the bronchi, but that is usually the bronchial tubes complaining. Lung pain is felt in the ribs or also referred to the back.
As a Hospice nurse, you face stuff on a daily basis that should send the uninitiated running to a counselor. I really wasn't giving you enough credit.
Mea Culpa. This site is a great place to find good information, vent when you have nobody to vent to and many kind hearts.
LL
You didn't offend me at all. No one has offended me here. Everyone has been great and I appreciate all the information and encouragement. He turned out to be severely PI. Severe PI on the fecal elastase test is 99 or less and his was 23. It seems crazy because his weight seemed normal until maybe the last couple years he wasn't gaining as much but still gaining. We went to his first appt yesterday and his fev1 was 67. The doctors came in and told us that he cultured MRSA and 2 strains of pseudomonas on his sputum culture, and that they were admitting him to the hospital for 2 weeks for IV antibiotics. I was in shock I still am a little. From what I've read particularly the MRSA is not good at all. He's never been in the hospital since he was born. I'm thinking I was wrong in hoping he had a mild form, because obviously we had no idea things were this bad. I mean like I said he was still gaining weight. He doesn't have labored breathing just a little sob when running around. No fevers. Biox 97 percent . I would have had no idea he had pneumonia if he hadn't coughed up blood or all these types of bacteria without the culture. I had been told prior to the appt that they were just starting him on inhaled antibiotics. I think I've been replying to messages wrong, so it's hard to tell who I am talking too. I really do appreciate you all taking time to respond to me. I really don't know anyone in person who can relate to all this. He's not too excited about being stuck in a hospital room for two weeks. He's never had an iv before today. I know it's for the best though to hopefully get this all cleared out.
Sunny:
I was dx at age 47. At age 59 I coughed up blood and went to the ER, where the Doctor told me that I was too old to have CF. We actually fought, when I told him to call the Dr who dx me (the head of the CF dept at Bostn Children's Hospital) he walked out of the room, never to be seen again.
Two CF truths that I learned, don't be concerned unless son produces a cup full of blood. Second, when in a need for a ER drive to the nearest hospital that has an Approved CF Clinic.
Bill
That doctor was probably too embarrassed to come back after that. Thankfully our CF clinic is at the hospital so that works out well for us.
LittleLab4CF
Super Moderator
I discovered that a suspicion I have held for a long time about CF isn't an original thought. Imogene, our fearless Founder of CysticFibrosis.com and I were talking some time back and when I remarked that CF MUST have another gene that controls the degree of disease penetration, severity and something to do with onset or changes. She almost screamed when she said that her husband had been saying this for years.
We talk about genes turning on. A gene turns on causing breast cancer to develop or cardiac disease develops when a gene becomes active and so forth. My own journey with chronic illness generally follows the disease prevalence in the population my age. As a young child, I caught every head and chest bug that walked by our house, most kids did. I still feel sympathy for the fired teacher who misunderstood a reduction in Facebook security and told some fellow teachers that kids are little germ bags. She was quite sick from a bug or bugs from the bags of germs and missing work when she made the remark. It turned out that some of her students and several parents were following the teacher on Facebook. Oops.
Anyway, back to disease onset and our genes. We have super tiny genes, that aren't even part of the chromosome structures. Some are hidden in the cell furnaces, mitochondria, many of which can determine our ancestral origins, some are small molecule genes, found in the protoplasm of cells. We have genes that act big, like the genes in development of a fertilized egg into a living human being. A single gene causes a limb to form, called limb bud genes, in the laboratory, we can take one of the limb bud cells, move it to the abdomen, and a limb, arm or leg will develop, grow right out of the belly. It explains birth defects where people are born with hands attached to the shoulder, no arm to make it a useful end effector. An error in the timing of coordinating genes that determine growth, sex and much more.
CF is so popular in science, especially mammalian genetics, not because it's popular, but it is believed to be a single gene disease, behaving in Mendelian fashion, Dominant and Recessive genes and you get CF if you have two identical recessive CF genes. Even people new to CF know that with over a thousand known disease causing CFTR genes, that can cause CF, Mendelian genetics is out.
I seriously doubt that CF comes down to the set of CFTR gene mutations. Twin studies have established that identical CFTR genes does not mean identical disease presentation. I am certain that there are tens of thousands of people walking around genetically CF and will never know it, they have no symptoms or they are misdiagnosed as asthsma or Marfans disease, a nervous stomach or whatever, but not CF.
Another gene or genes are influencing where CF is going to cause issues, and possibly when. Late diagnosed CFers give me the best evidence. An Atlantic Ocean Life Guard, as Printer was in his youth, is a miracle? His two college degrees, multiple businesses he developed don't sound like a person with CF, except it is.
My paternal grandmother was a German Russian born in Waterloo Russia, now Belgium, in 1897. She's my CF Eve, I believe. She died at age ~48 of pancreatic/liver cancer. My father joined the Army in 1942, went through Basic training and was discharged due to "Neuro-Gastric" disorder. He battled GI disease and pneumonias from about the age of 42 until his death at 48. He was diagnosed based upon his autopsy results interpreted after my CF diagnosis. No great surprise, I had boundless energy, so much that I was suspected of the dreaded disease FFI, fatal familial insomnia. It was believed that I had just inherited a number of rather annoying, but disparate health issues like chronic sinusitis, ENT infections, and my father's GI mess.
Things started to go downhill when I hit about 47. Up until then, I was a globe trotting jet setter, spending an average of six months of each year over one pond or the other. It was a marathon lifestyle that very few people can sustain. I worked 90 hour weeks when I was home and worked even more when I was working internationally. This isn't what you expect of CF. By age 49 I had been to the top clinics in my area, the Mayo Clinic and such. I reached the point where I could work 32 hours per week, period. I wouldn't have done that except the company's future was riding on my completion of a huge automation project, one with serious consequences if it failed. By age fifty, I had sold my stock and was essentially bed bound.
If genetics isn't behind the precipitous deaths of my lineage at age 48, my own close call at a similar age, I'll eat dirt. It has been established that environment, in twin studies and other studies, has little effect, diet is a big one but I look at all CFers not diagnosed, or not even really sick at birth, to the late in life, interestingly around age 45-50, diagnosed who are very sick now but somehow pushed through life and excelled, to survive and be diagnosed late. Heck, age 4, 9, 12, 22, 30, any age beyond infancy to evade diagnosis means to me that other genes are impacting when the severity of CF is going to amp up.
Just a thought,
LL
We talk about genes turning on. A gene turns on causing breast cancer to develop or cardiac disease develops when a gene becomes active and so forth. My own journey with chronic illness generally follows the disease prevalence in the population my age. As a young child, I caught every head and chest bug that walked by our house, most kids did. I still feel sympathy for the fired teacher who misunderstood a reduction in Facebook security and told some fellow teachers that kids are little germ bags. She was quite sick from a bug or bugs from the bags of germs and missing work when she made the remark. It turned out that some of her students and several parents were following the teacher on Facebook. Oops.
Anyway, back to disease onset and our genes. We have super tiny genes, that aren't even part of the chromosome structures. Some are hidden in the cell furnaces, mitochondria, many of which can determine our ancestral origins, some are small molecule genes, found in the protoplasm of cells. We have genes that act big, like the genes in development of a fertilized egg into a living human being. A single gene causes a limb to form, called limb bud genes, in the laboratory, we can take one of the limb bud cells, move it to the abdomen, and a limb, arm or leg will develop, grow right out of the belly. It explains birth defects where people are born with hands attached to the shoulder, no arm to make it a useful end effector. An error in the timing of coordinating genes that determine growth, sex and much more.
CF is so popular in science, especially mammalian genetics, not because it's popular, but it is believed to be a single gene disease, behaving in Mendelian fashion, Dominant and Recessive genes and you get CF if you have two identical recessive CF genes. Even people new to CF know that with over a thousand known disease causing CFTR genes, that can cause CF, Mendelian genetics is out.
I seriously doubt that CF comes down to the set of CFTR gene mutations. Twin studies have established that identical CFTR genes does not mean identical disease presentation. I am certain that there are tens of thousands of people walking around genetically CF and will never know it, they have no symptoms or they are misdiagnosed as asthsma or Marfans disease, a nervous stomach or whatever, but not CF.
Another gene or genes are influencing where CF is going to cause issues, and possibly when. Late diagnosed CFers give me the best evidence. An Atlantic Ocean Life Guard, as Printer was in his youth, is a miracle? His two college degrees, multiple businesses he developed don't sound like a person with CF, except it is.
My paternal grandmother was a German Russian born in Waterloo Russia, now Belgium, in 1897. She's my CF Eve, I believe. She died at age ~48 of pancreatic/liver cancer. My father joined the Army in 1942, went through Basic training and was discharged due to "Neuro-Gastric" disorder. He battled GI disease and pneumonias from about the age of 42 until his death at 48. He was diagnosed based upon his autopsy results interpreted after my CF diagnosis. No great surprise, I had boundless energy, so much that I was suspected of the dreaded disease FFI, fatal familial insomnia. It was believed that I had just inherited a number of rather annoying, but disparate health issues like chronic sinusitis, ENT infections, and my father's GI mess.
Things started to go downhill when I hit about 47. Up until then, I was a globe trotting jet setter, spending an average of six months of each year over one pond or the other. It was a marathon lifestyle that very few people can sustain. I worked 90 hour weeks when I was home and worked even more when I was working internationally. This isn't what you expect of CF. By age 49 I had been to the top clinics in my area, the Mayo Clinic and such. I reached the point where I could work 32 hours per week, period. I wouldn't have done that except the company's future was riding on my completion of a huge automation project, one with serious consequences if it failed. By age fifty, I had sold my stock and was essentially bed bound.
If genetics isn't behind the precipitous deaths of my lineage at age 48, my own close call at a similar age, I'll eat dirt. It has been established that environment, in twin studies and other studies, has little effect, diet is a big one but I look at all CFers not diagnosed, or not even really sick at birth, to the late in life, interestingly around age 45-50, diagnosed who are very sick now but somehow pushed through life and excelled, to survive and be diagnosed late. Heck, age 4, 9, 12, 22, 30, any age beyond infancy to evade diagnosis means to me that other genes are impacting when the severity of CF is going to amp up.
Just a thought,
LL
I discovered that a suspicion I have held for a long time about CF isn't an original thought. Imogene, our fearless Founder of CysticFibrosis.com and I were talking some time back and when I remarked that CF MUST have another gene that controls the degree of disease penetration, severity and something to do with onset or changes. She almost screamed when she said that her husband had been saying this for years.
We talk about genes turning on. A gene turns on causing breast cancer to develop or cardiac disease develops when a gene becomes active and so forth. My own journey with chronic illness generally follows the disease prevalence in the population my age. As a young child, I caught every head and chest bug that walked by our house, most kids did. I still feel sympathy for the fired teacher who misunderstood a reduction in Facebook security and told some fellow teachers that kids are little germ bags. She was quite sick from a bug or bugs from the bags of germs and missing work when she made the remark. It turned out that some of her students and several parents were following the teacher on Facebook. Oops.
Anyway, back to disease onset and our genes. We have super tiny genes, that aren't even part of the chromosome structures. Some are hidden in the cell furnaces, mitochondria, many of which can determine our ancestral origins, some are small molecule genes, found in the protoplasm of cells. We have genes that act big, like the genes in development of a fertilized egg into a living human being. A single gene causes a limb to form, called limb bud genes, in the laboratory, we can take one of the limb bud cells, move it to the abdomen, and a limb, arm or leg will develop, grow right out of the belly. It explains birth defects where people are born with hands attached to the shoulder, no arm to make it a useful end effector. An error in the timing of coordinating genes that determine growth, sex and much more.
CF is so popular in science, especially mammalian genetics, not because it's popular, but it is believed to be a single gene disease, behaving in Mendelian fashion, Dominant and Recessive genes and you get CF if you have two identical recessive CF genes. Even people new to CF know that with over a thousand known disease causing CFTR genes, that can cause CF, Mendelian genetics is out.
I seriously doubt that CF comes down to the set of CFTR gene mutations. Twin studies have established that identical CFTR genes does not mean identical disease presentation. I am certain that there are tens of thousands of people walking around genetically CF and will never know it, they have no symptoms or they are misdiagnosed as asthsma or Marfans disease, a nervous stomach or whatever, but not CF.
Another gene or genes are influencing where CF is going to cause issues, and possibly when. Late diagnosed CFers give me the best evidence. An Atlantic Ocean Life Guard, as Printer was in his youth, is a miracle? His two college degrees, multiple businesses he developed don't sound like a person with CF, except it is.
My paternal grandmother was a German Russian born in Waterloo Russia, now Belgium, in 1897. She's my CF Eve, I believe. She died at age ~48 of pancreatic/liver cancer. My father joined the Army in 1942, went through Basic training and was discharged due to "Neuro-Gastric" disorder. He battled GI disease and pneumonias from about the age of 42 until his death at 48. He was diagnosed based upon his autopsy results interpreted after my CF diagnosis. No great surprise, I had boundless energy, so much that I was suspected of the dreaded disease FFI, fatal familial insomnia. It was believed that I had just inherited a number of rather annoying, but disparate health issues like chronic sinusitis, ENT infections, and my father's GI mess.
Things started to go downhill when I hit about 47. Up until then, I was a globe trotting jet setter, spending an average of six months of each year over one pond or the other. It was a marathon lifestyle that very few people can sustain. I worked 90 hour weeks when I was home and worked even more when I was working internationally. This isn't what you expect of CF. By age 49 I had been to the top clinics in my area, the Mayo Clinic and such. I reached the point where I could work 32 hours per week, period. I wouldn't have done that except the company's future was riding on my completion of a huge automation project, one with serious consequences if it failed. By age fifty, I had sold my stock and was essentially bed bound.
If genetics isn't behind the precipitous deaths of my lineage at age 48, my own close call at a similar age, I'll eat dirt. It has been established that environment, in twin studies and other studies, has little effect, diet is a big one but I look at all CFers not diagnosed, or not even really sick at birth, to the late in life, interestingly around age 45-50, diagnosed who are very sick now but somehow pushed through life and excelled, to survive and be diagnosed late. Heck, age 4, 9, 12, 22, 30, any age beyond infancy to evade diagnosis means to me that other genes are impacting when the severity of CF is going to amp up.
Just a thought,
LL
I know they say that certain cftr mutation pairings cause a more "mild" form of the disease or are more likely to affect sinuses/gi and not as much the lungs leading to the longer lifespan of people diagnosed late with cf. It does seem strange to me though that even siblings with the same gene pair considered "severe" like double delta f508 can have much different courses of the disease, even though their mutations are the same and environment/diet largely the same. I think you may be right that another gene or genes has some effect on how and when the mutation is expressed. In identical twins though wouldn't all their genes be the same so that another gene affecting the mutation would still be the same? My son hasn't had his gentetic testing done yet, but before everything that has happened since his diagnosis I would have expected him to have my delta f508 and another more "mild" mutation. Now that we have found out he is severely PI, lung function kind of low, and culturing mrsa and psuedomonas I'm not so sure. I think what helped with his weight and nutrition is that I make healthy meals for my kids, but I mostly let them eat what they want for meals and snacks. I know people nowadays would gasp at that, but surprisingly as they have gotten older they love vegetables and healthy foods, and they have normal healthy weights and none of them gorge themselves on sweets. I think it helped my son with cf though because he was naturally drawn to high salt foods and foods that were easier to digest without enzymes like carbs and some protein and fruit. Anyways it confuses the heck out of me, because I haven't found many cases of people with cf who had the issues he has now, but were not too much affected until his age. He was never even on any asthma meds and only did albuterol nebs once in awhile if he had a bad cold or bronchitis. I even asked the nurse if you can develop severe PI overtime and she said they either are PI or are not, and I can't find anything about it online. I read online that only 25 percent of cf patients culture mrsa and it seems it's hard to get rid of and can increase morbidity which scares the crap out of me. Do you have lung problems also or is it mostly the pancreatic issues? I read a study that showed almost all patient in a study with chronic pancreatitis had at least one cftr mutation. They have thought that alcoholism is one of the biggest causes, but even most of alcoholics had at least one mutation. I had wondered before when I had very young copd patients on hospice like early 50s what the difference was between the ones were in their 80s. They all usually smoked so why would some be terminal so much earlier, now I think it's probably some gene possibly even undiagnosed cf.
I discovered that a suspicion I have held for a long time about CF isn't an original thought. Imogene, our fearless Founder of CysticFibrosis.com and I were talking some time back and when I remarked that CF MUST have another gene that controls the degree of disease penetration, severity and something to do with onset or changes. She almost screamed when she said that her husband had been saying this for years.
We talk about genes turning on. A gene turns on causing breast cancer to develop or cardiac disease develops when a gene becomes active and so forth. My own journey with chronic illness generally follows the disease prevalence in the population my age. As a young child, I caught every head and chest bug that walked by our house, most kids did. I still feel sympathy for the fired teacher who misunderstood a reduction in Facebook security and told some fellow teachers that kids are little germ bags. She was quite sick from a bug or bugs from the bags of germs and missing work when she made the remark. It turned out that some of her students and several parents were following the teacher on Facebook. Oops.
Anyway, back to disease onset and our genes. We have super tiny genes, that aren't even part of the chromosome structures. Some are hidden in the cell furnaces, mitochondria, many of which can determine our ancestral origins, some are small molecule genes, found in the protoplasm of cells. We have genes that act big, like the genes in development of a fertilized egg into a living human being. A single gene causes a limb to form, called limb bud genes, in the laboratory, we can take one of the limb bud cells, move it to the abdomen, and a limb, arm or leg will develop, grow right out of the belly. It explains birth defects where people are born with hands attached to the shoulder, no arm to make it a useful end effector. An error in the timing of coordinating genes that determine growth, sex and much more.
CF is so popular in science, especially mammalian genetics, not because it's popular, but it is believed to be a single gene disease, behaving in Mendelian fashion, Dominant and Recessive genes and you get CF if you have two identical recessive CF genes. Even people new to CF know that with over a thousand known disease causing CFTR genes, that can cause CF, Mendelian genetics is out.
I seriously doubt that CF comes down to the set of CFTR gene mutations. Twin studies have established that identical CFTR genes does not mean identical disease presentation. I am certain that there are tens of thousands of people walking around genetically CF and will never know it, they have no symptoms or they are misdiagnosed as asthsma or Marfans disease, a nervous stomach or whatever, but not CF.
Another gene or genes are influencing where CF is going to cause issues, and possibly when. Late diagnosed CFers give me the best evidence. An Atlantic Ocean Life Guard, as Printer was in his youth, is a miracle? His two college degrees, multiple businesses he developed don't sound like a person with CF, except it is.
My paternal grandmother was a German Russian born in Waterloo Russia, now Belgium, in 1897. She's my CF Eve, I believe. She died at age ~48 of pancreatic/liver cancer. My father joined the Army in 1942, went through Basic training and was discharged due to "Neuro-Gastric" disorder. He battled GI disease and pneumonias from about the age of 42 until his death at 48. He was diagnosed based upon his autopsy results interpreted after my CF diagnosis. No great surprise, I had boundless energy, so much that I was suspected of the dreaded disease FFI, fatal familial insomnia. It was believed that I had just inherited a number of rather annoying, but disparate health issues like chronic sinusitis, ENT infections, and my father's GI mess.
Things started to go downhill when I hit about 47. Up until then, I was a globe trotting jet setter, spending an average of six months of each year over one pond or the other. It was a marathon lifestyle that very few people can sustain. I worked 90 hour weeks when I was home and worked even more when I was working internationally. This isn't what you expect of CF. By age 49 I had been to the top clinics in my area, the Mayo Clinic and such. I reached the point where I could work 32 hours per week, period. I wouldn't have done that except the company's future was riding on my completion of a huge automation project, one with serious consequences if it failed. By age fifty, I had sold my stock and was essentially bed bound.
If genetics isn't behind the precipitous deaths of my lineage at age 48, my own close call at a similar age, I'll eat dirt. It has been established that environment, in twin studies and other studies, has little effect, diet is a big one but I look at all CFers not diagnosed, or not even really sick at birth, to the late in life, interestingly around age 45-50, diagnosed who are very sick now but somehow pushed through life and excelled, to survive and be diagnosed late. Heck, age 4, 9, 12, 22, 30, any age beyond infancy to evade diagnosis means to me that other genes are impacting when the severity of CF is going to amp up.
Just a thought,
LL
It also makes me wonder if the 37 year lifespan for cf would not be that high, if they excluded patients with the "mild" class mutations who likely wouldn't have been diagnosed with cf before they could find so many mutations. I don't think any cf is mild because of the issues it causes, but in comparison to the ones dying in childhood or teens.
I have one other issue that is concerning me that I'm going to ask the doctor about. I have online access to all his lab results. His first glucose was a little high, so they did a fasting glucose and a 2 hour glucose. His fasting and 2 hour were both in the prediabetic range. Two hour was 157 and fasting was I think 101. I've been doing research and it says that cf patients who develop cf diabetes will have prediabetic results for awhile before. It also says that the prediabetic state causes nutritional and respiratory decline even before reaching full diabetes. Does anyone have any experience with this or being treated for prediabetes? Just another thing to worry about ?
Sunny, welcome to the forum, I'm sorry we aren't meeting under more pleasant circumstances for you.
Your son's diagnosis would have been similar to my older brother had I not come along. He was 8 before being diagnosed. He had pneumonia as a kid and had some other minor indicators (gassy, BM issues, etc). But without me coming along and having more significant intestinal involvement (I just wasn't thriving) he might have gone several more years without a CF test. Don’t beat yourself up about not catching the diagnosis earlier, this is just not a straight forward disease.
Adjusting to a new diagnosis is tough. It is obviously extra stress, often people go through a sort of grieving process with many of the same stages. Your son may also experiencing the same. Getting some counseling (for the entire family) and dialing back on outside stresses or extracurricular activities for a few month or so might be helpful. Just make sure that you communicate that this disease won’t be the loss of those things but that you just need to learn how to manage, and that your son taking care of himself needs to be a bit of a priority.
The management of CF can be broken down to just a few things (even though at first it seems overwhelming). I’ve listed them in the order that is most important for me;
1) Learn to take enzymes when you eat. For me just carrying a small container of 8-10 pills in my pocket helps me remember. In a long term snack mode (like while watching football or at a party), it helps if I take pills at the start of the event and again at the end of it.
2) Learn to do breathing treatments on a regular schedule, just plan it in like a commute or brushing teeth. I have a block of time in the morning and a second block right before bed for doing inhaled medicines and the Vest, these times are non-negotiable and go with me when I travel, visit family, and even when camping.
3) Get used to quarterly trips to the CF clinic for regular checkups. These are not quick trips to the doctor and often take the better part of a day. Make these more enjoyable by bringing snacks and distractions for the waiting room. My mom would end our clinic by taking me out to eat (which was a big treat) afterwards.
4) Spend the time to study and learn about your health insurance (ask here if you get stumped) and talk with your clinic social worker if you need any help paying for treatments or meds. This disease is expensive and sometimes necessitates adjustment to your personal finances and standard of living.
5) Learn that sometimes life will just have to be paused to deal with CF, but don’t spend time worrying about it (easier said than done, I struggle with this). Worry doesn’t really do much to treat this disease. Instead of worry, get to the doctor and get a treatment if warranted and available.
Do your best to continue to treat your son like a normal kid. He just now has some extra responsibility in his life (like getting a miserable pet that keeps messing up the carpet). With the current batch of treatments and meds, plus current research, odds are your son will have a long full life. And feel free to ask the forum when you get stumped, or stress, or anything else bothers you.
Your son's diagnosis would have been similar to my older brother had I not come along. He was 8 before being diagnosed. He had pneumonia as a kid and had some other minor indicators (gassy, BM issues, etc). But without me coming along and having more significant intestinal involvement (I just wasn't thriving) he might have gone several more years without a CF test. Don’t beat yourself up about not catching the diagnosis earlier, this is just not a straight forward disease.
Adjusting to a new diagnosis is tough. It is obviously extra stress, often people go through a sort of grieving process with many of the same stages. Your son may also experiencing the same. Getting some counseling (for the entire family) and dialing back on outside stresses or extracurricular activities for a few month or so might be helpful. Just make sure that you communicate that this disease won’t be the loss of those things but that you just need to learn how to manage, and that your son taking care of himself needs to be a bit of a priority.
The management of CF can be broken down to just a few things (even though at first it seems overwhelming). I’ve listed them in the order that is most important for me;
1) Learn to take enzymes when you eat. For me just carrying a small container of 8-10 pills in my pocket helps me remember. In a long term snack mode (like while watching football or at a party), it helps if I take pills at the start of the event and again at the end of it.
2) Learn to do breathing treatments on a regular schedule, just plan it in like a commute or brushing teeth. I have a block of time in the morning and a second block right before bed for doing inhaled medicines and the Vest, these times are non-negotiable and go with me when I travel, visit family, and even when camping.
3) Get used to quarterly trips to the CF clinic for regular checkups. These are not quick trips to the doctor and often take the better part of a day. Make these more enjoyable by bringing snacks and distractions for the waiting room. My mom would end our clinic by taking me out to eat (which was a big treat) afterwards.
4) Spend the time to study and learn about your health insurance (ask here if you get stumped) and talk with your clinic social worker if you need any help paying for treatments or meds. This disease is expensive and sometimes necessitates adjustment to your personal finances and standard of living.
5) Learn that sometimes life will just have to be paused to deal with CF, but don’t spend time worrying about it (easier said than done, I struggle with this). Worry doesn’t really do much to treat this disease. Instead of worry, get to the doctor and get a treatment if warranted and available.
Do your best to continue to treat your son like a normal kid. He just now has some extra responsibility in his life (like getting a miserable pet that keeps messing up the carpet). With the current batch of treatments and meds, plus current research, odds are your son will have a long full life. And feel free to ask the forum when you get stumped, or stress, or anything else bothers you.
It also makes me wonder if the 37 year lifespan for cf would not be that high, if they excluded patients with the "mild" class mutations who likely wouldn't have been diagnosed with cf before they could find so many mutations.
The 37 expected life span would be a lot higher if they excluded patients with 'sever' disease manifestations. CF still takes some in infancy and early childhood, which keeps the 'life expectancy' numbers low. I had a friend who recently passed at 40 years old, when she was diagnosed the stated life expectancy was 19. So she beat her expected by 20 years.
Also type of mutations isn't always an indicator of severity, I have double delta F508 mutation which isn't mild in any sense, but here I am with pretty good odds of getting well past my expectancy.
I know a number of people, who have dd F508, including my child with varying diagnoses and progression. My son was diagnosed at birth due to meconium ileus. His sweat test at 3 weeks was a normal 32. He always had very loose stools, sinus issues and really no long issues/pneumonia. Friend of mine's daughter was diagnosed at 18 months. Issues with constipation, many bouts of bronchitis. Doctor decided to do a sweat test to rule out CF and it was off the charts. Another friend's daughter was diagnosed at 3 years old -- had never been sick -- not even an ear infection--- though had some issues with reflux. She was diagnosed after her brother was found to have CF via newborn screening. Friend of mine's husband diagnosed at age 14 and is working full time, in his 40s.
In terms of progression, you can do everything you're supposed to do and still have issues because of bugs you pick up. Unfortunately it's the luck of the draw.
In terms of CFRD. DS gets annual bloodwork done. In recent years his glucose tolerance test results haven't been great. I believe the CFF website had a good explanation on CFRD. DS has had an A1C test in which the results have shown he's fine. Due to his pancreatic insufficiency I dread the day he has to deal with yet another diagnosis, but we'll deal with it. What choice do we have?
In terms of progression, you can do everything you're supposed to do and still have issues because of bugs you pick up. Unfortunately it's the luck of the draw.
In terms of CFRD. DS gets annual bloodwork done. In recent years his glucose tolerance test results haven't been great. I believe the CFF website had a good explanation on CFRD. DS has had an A1C test in which the results have shown he's fine. Due to his pancreatic insufficiency I dread the day he has to deal with yet another diagnosis, but we'll deal with it. What choice do we have?
The 37 expected life span would be a lot higher if they excluded patients with 'sever' disease manifestations. CF still takes some in infancy and early childhood, which keeps the 'life expectancy' numbers low. I had a friend who recently passed at 40 years old, when she was diagnosed the stated life expectancy was 19. So she beat her expected by 20 years.
Also type of mutations isn't always an indicator of severity, I have double delta F508 mutation which isn't mild in any sense, but here I am with pretty good odds of getting well past my expectancy.
I hope it's much longer. I've looked at the cff foundation Facebook and see a lot of comments from people saying they lost a young child or teen. Or a cf Facebook group with lots of people in their 20s and it all makes me worry. Which is why I wondered about their quoted life expectancy. But it does seem like there must be something else at work when so many people with the same mutations can have such different levels of diseases
I know a number of people, who have dd F508, including my child with varying diagnoses and progression. My son was diagnosed at birth due to meconium ileus. His sweat test at 3 weeks was a normal 32. He always had very loose stools, sinus issues and really no long issues/pneumonia. Friend of mine's daughter was diagnosed at 18 months. Issues with constipation, many bouts of bronchitis. Doctor decided to do a sweat test to rule out CF and it was off the charts. Another friend's daughter was diagnosed at 3 years old -- had never been sick -- not even an ear infection--- though had some issues with reflux. She was diagnosed after her brother was found to have CF via newborn screening. Friend of mine's husband diagnosed at age 14 and is working full time, in his 40s.
In terms of progression, you can do everything you're supposed to do and still have issues because of bugs you pick up. Unfortunately it's the luck of the draw.
In terms of CFRD. DS gets annual bloodwork done. In recent years his glucose tolerance test results haven't been great. I believe the CFF website had a good explanation on CFRD. DS has had an A1C test in which the results have shown he's fine. Due to his pancreatic insufficiency I dread the day he has to deal with yet another diagnosis, but we'll deal with it. What choice do we have?
I know it's so strange how people with the same mutations can have such different manifestations of the disease. I know I would hate for my son to have diabetes on top of everything else, but you're right nothing else to do but just deal with it.