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Thread: 12 year old just diagnosed

  1. #31
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    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
    66 yr. old man, DX CF 2002 by sweat test. Heterozygous S1235R revealed by genetic testing in 2003 & 2012 accepted secondary mutation. 7T, 7T polymorphism appears to be virulent.

  2. #32
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    Quote Originally Posted by LittleLab4CF View Post
    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.

  3. #33
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    Quote Originally Posted by LittleLab4CF View Post
    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.

  4. #34
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    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 😢

  5. #35
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    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.

  6. #36
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    Quote Originally Posted by Sunny9432 View Post
    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.
    Thirtysomething Dad of three (IVFw/ICSI), Mormon, Engineer in Utah.
    I was dx at 1 yr (failure to thrive), D▲F508, FEV1~94%, PA and MSSA, PI.
    2 brothers w/CF, 3 siblings w/out. My wife and parents are saints.

  7. #37
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    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?
    Parent to a child wcf double delta f508

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