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  • Families of IPF/PF patients getting tested

    Posted by gina-burke on June 13, 2019 at 11:47 am

    Hi all!! I’m wondering how many family members get tested for IPF after losing your relative to this horrific disease? My Dad had IPF and was diagnosed in August 2015. He was diagnosed after being hospitalized for pneumonia. He came home on oxygen in April of 2015 and wasn’t told he had IPF until August of that year. He had just turned 70 years old on April 16th and the weekend after his birthday was when he got pneumonia. My Dad had never been sick other than diabetes so it was quite shocking to say the least!! After reaching out to relatives on his father’s side, he had never really known them, we found that several of his Uncles and cousins had died from IPF. My Daddy died on April 1st, 15 days before his 74th birthday. So, he almost made 4 years with this effing disease!! The last 6 months were brutal and at times I didn’t know how he could endure much longer. We are, still, very much broken that this, larger than life man, best husbad, Dad, grandpa, friend and rock of the family could have to go through this. He was so very religious/spiritual and I know that he was in God’s hands through his until the end.

    My question is; how many people get tested after watching your family member die from this? What made you decide to either get tested or not? My thoughts were to get tested as soon as possible so that I know what to expect. My brother, on the other hand, does not want to know if he has it or not. I feel so frustrated that he doesn’t want to know. Please share your thoughts and opinions with me and others just to hear different views. I hope it’s a question that others have as well.

    Sorry if this is too long.

    Thank you for your time.


    anjolie1 replied 2 years, 10 months ago 16 Members · 27 Replies
  • 27 Replies
  • marianne

    June 13, 2019 at 5:00 pm

    Gina –

    I don’t know the answer to your question.  But from what I understand about IPF many of the cases no not run in families.  I was just diagnosed in May 2019 with IPF.  To my knowledge no long in my family was ever diagnosed with IPF.  Many people in my family had cancer and heart issues.  I understand your desire to be tested as well as your brother not wanting to be tested.  Hope you get the answers you want.


    • ron-leeaspenwebs-com

      May 25, 2021 at 7:36 pm

      from what I have learned, and what is somewhat confirmed by various posters here, it is rarely found to run in families. I know there is no known lung disease of any kind in my parents, my grandparent or cousins. Likewise with my adult children.

      No one in my family  has been tested for IPF because of my IPF. I have had IPF since 2007 and have yet to progress to that so-called “horrible” ending. It does not help to have people refer to it that way. We all feel compassion for those who suffer, but like the disease itself, the amount and type of suffering varies widely. For some the end comes quietly. I prefer not to be concerned, what will be will be. I’m prepared to accept it. Please don’t tell me how horrible it might be. It might not.

  • Charlene Marshall

    June 14, 2019 at 10:40 am

    Hi Gina ( @ihateipf  – love your username, btw) !

    Thanks for writing and starting this topic, it really is an interesting one! I haven’t really been able to secure an answer about whether “familial PF” is something that exists or not. Some people say it doesn’t, whereas others in various groups I am in say they have been told it can be genetic. I’m a bit stuck and not sure what to believe, but I can tell you about my experience of being diagnosed with IPF at 28 years old and how they wanted my siblings tested for any type of autoimmune or interstitial lung disease (ILD) that they may have as well…

    The specialist was very open and up front about not knowing how this disease would present itself since I was so young. He ran through a huge medical list of conditions and wanted to know if any of my family (immediate or extended) had them, to which most of my answers were no or “no history of”. This seemed to boggle the physician! I had the options of asking my siblings if they wanted to be tested for IPF, both didn’t so I can’t know if it runs in my family in any way, although I do know that no one in my family history has died of a lung disease. Isn’t that odd?

    I have corresponded with many people who have had multiple siblings with PF/IPF and then they get tested to see if they carry the gene or are more likely to get it as well. Nothing seems consistent though. Sorry I can’t offer more advice, I’d be curious to hear answers to your questions from others as well so I hope folks respond.

    Thanks for writing Gina!
    Take care,

  • lindsay-dawson

    March 18, 2020 at 1:29 am

    I realise this is an old thread but it is discussing the exact issue I am concerned about.
    My lovely Dad died in 2007 – he had a general anaesthetic for surgery which somehow “triggered” the PF – three WEEKS later we had to switch off his oxygen supply as there was no hope for him. His father, my grandad, died in 1984 from the same thing, though he lasted longer after diagnosis, then my aunt, dad’s sister died three years ago. All were in their early 70’s. In 2007 a “ familial” link was unheard of here in the UK, I would be very interested to know if there is a test for a gene or anything I can do personally to stave off this hideous disease. Now we have Coronavirus to deal with too! Very worried, could this be another trigger? I’m 53, no symptoms. Love to all x

  • mark-koziol

    March 18, 2020 at 5:02 am

    Hello Lindsay, I had genetic testing related to my ipf diagnosis in March of 2015. Telomeres testing was also involved. Testing is expensive and many insurance companies are hesitant to pay for the test. Mine did and the results were I have short telomeres syndrome and my ipf is not familial. Kind of interesting since an older brother was diagnosed with ipf last summer. This will a conversation you will have with your doctor and a genetic counselor. There is also nothing currently on the market to stop this disease from manifesting in the body.  I hope this helps, take care. Mark

  • lindsay-dawson

    March 18, 2020 at 5:53 am

    My next question was – could this horrid Coronavirus act as a trigger if I have the pf gene? Very worried. X

  • mark-koziol

    March 18, 2020 at 9:42 am

    Hello Lindsay, I can’t answer that question but I do know that currently there have been no post lung transplant patients infected with this virus. It has also been confirmed that 3 patients have had a lung transplant in China due to the devastation COVID-19 caused to their lungs. This information was conveyed to me by the medical director of the Cleveland Clinic Lung Transplant Center. It was given as a Facebook post to the clinics transplant group. Mark

  • karen-martin

    March 19, 2020 at 9:09 am

    I don’t know if there is a genetic link to something like this, but you probably also need to factor in that most of those people grew up either together or in very similar circumstances, which likely included all of the triggers responsible. Since IPF means they are unknown, that could be part of the answer here. Karen

  • christine-tenuta

    March 19, 2020 at 4:46 pm

    I have pondered this question for years. My mother died from IPF in 2004. She was only 60 years old. My siblings and I have discussed this and are all “on the fence”. It’s been a while since I was in “research mode” so I’m unsure what type of genetic testing is available (cost, invasiveness etc). Her father died in 1973 from a stroke and the family has always said he had emphysema (which we often wonder if that could have been IPF). I also found out as my mother was dying from her brother that their grandmother (father’s mother) died in an “oxygen tent” and that they were told as children that the whole family on that side had “bad lungs” soooo, my siblings and I suspect it could likely be genetic…at least in our family. That being said and since there isn’t currently a cure, we have always said we would probably not get tested. If there is not much that can be done, we have always felt we wanted to live our lives to the fullest without that constantly at the back of our minds.

  • mark-koziol

    March 19, 2020 at 4:59 pm

    Hello Christine, you have some valid points for concern. I hope you stay free from this awful lung disease. I would bring this to the attention of your general practitioner on a wellness visit or make an appointment to discuss your concerns. A chest X-ray could be ordered for you. The X-ray would at least tell the doctor whether or not he should pursue further testing and monitoring of your condition. You can also make an appointment with a genetic counselor. They will steer you in the right direction as far as genetic testing. I had this done and it was determined I didn’t have familial IPF, but my older brother was diagnosed last summer with IPF. Your doctor may have to refer you. You may even be able to make an appointment as a family. There are many questions asked about your family members. I can not remember the turn around for results though. If you have any more questions please ask. Take care, Mark.

  • mike-montague

    March 20, 2020 at 2:23 am

    Hello all.  Regarding the original posted question from Gina, I have lived this.  My mom and her siblings died from IPF and we were scratching heads wondering if something environmental caused it Or was it genetic?They died in age order all about 78 years old.

    Then one of my older sisters suddenly was diagnosed and died within a few months.  That’s when I went to a pulmonologist although I had no symptoms.   At that time there was no medicine so it really seemed pointless to pursue it.

    Then another sister died about a year later.  I went back to the pulmonologist.  I still had mo symptoms.  He told me that thete is still no cure but drugs were now approved to slow it down.  Now it made sense to get further tests of my lungs.  I went full tilt with a CT scan with contrast that said probably PF.  Then I paid for  a lung biopsy to be sure.

    Since then I’ve had genetic testing and encourage other family members to do it.

  • mark-koziol

    March 20, 2020 at 4:42 am

    Hello Mike, thanks for sharing your experience. Can you tell the forum what the conclusion of your genetic testing was? I had it done and they stated it was not familial but  my brother was diagnosed last summer with IPF. He has brought this to the attention of his doctor. Thanks again. Take care, mark.

  • mike-montague

    March 20, 2020 at 10:38 am

    Hi Mark.  I was diagnosed by Dr. Mary Strek at the Univ. Of Chicago Medical Center.  She is fantastic and highly involved in PF research and suggested I have a conversation with Dr. Jane Churpek, a colleague in oncology who was doing a study on genetic linkages.

    I first got tested for missing genes and telomere length.  The lab found NO missing genes and my telomeres were just slightly below average length, so nothing significant there.

    Next I was tested for defective genes.  Dr. Churpek said they could only test about 30 gene pairs.

    The results came in and she told me that only my PARN gene pair had a defect.  One side was 100% but the other side was missing 7/8ths of the components. That seemed like a lot to me.

    I asked for a write up to share at my upcoming family reunion.  Dr. asked if she and her team could come to my family reunion in rural Indiana to take genetic samples of those willing.  I got overwhelming approval from family and she and her team came to take blood, saliva, and medical histories.

    About 25 blood relatives got tested.  Although THE CAUSAL LINK ISNT PROVEN, everyone who already had a confirmed PF diagnosis, also had the defect.  That seemed significant.

    Several found out they did NOT have the PARN defect.  That was good news for them, their kids, and grandkids! (You can’t pass on a defect you don’t have).

    However 3 more relatives did discover they have the same PARN defect.  Now they are having conversations with their doctors about what to do next.

  • mark-koziol

    March 20, 2020 at 11:10 am

    Thanks Mike, an excellent explanation of your testing experience. As I stated my IPF is not familial but my brother was diagnosed with ipf last summer and he is having this conversation with his team in the near future. My telomeres are under 1st percentile. My telomeres were tested in October of the past year and March of 2015. They are getting shorter as the years go by. This last test was for informal research by my transplant physician. My immune system is seriously compromised but I have stayed relatively healthy through my ordeal. Thank you again for sharing your process. This info will help other members who may want to consider in depth genetic testing. Stay well, mark

  • stacy-davenport

    May 18, 2021 at 10:01 am

    Hi All,

    Thank you Gina Burke for starting this thread and to all of you who’ve provided  so much useful information to those of us left wondering if there is a genetic link to more than one close family member who has been diagnosed with IPF.

    Today, I was able to speak to my UK Dr regarding genetic testing for this horrible disease after recently losing my 83 yr old mother to IPF and emphizema. She was diagnosed 4 1/2 years ago in St. Louis, MO. She spent her last year and weeks in palliative and hospice care in a care home.

    Her brothers both had been diagnosed with IPF. One brother who was a heavy smoker died at 74. The other brother a non-smoker was diagnosed at 63 and was fortunate enough to receive a lung transplant a few years ago at 65. He seems to be thriving although covid is a major concern obvs.

    I feel fairly confident that my Dr will be able to provide a professional source to discuss genetic testing with, at least. In the meantime, I’m wondering if they are any readers here who have any information or experience on what is offered by way of testing in the UK and how it is done on the NHS or other. Thank you



  • bkroeplin0182

    May 18, 2021 at 3:03 pm

    I can only speak for my family, but I did have genetic testing done, and it showed that I have “short” telomeres. There are only a few known genes identified with IPF, out of millions/billions…so they may find more down the road. I am guessing in my family we are susceptible to some sort of environmental trigger. My Fraternal Grandmother died of an “unknown” lung disease in the 1950’s. My dads brother died of IPF in the 1970’s. My dad died of IPF in 1988, his other brother had IPF when he died of a heart attach in the 1990’s. I was diagnosed with IPf in 2016 at the age of 58, and my sister was diagnosed with IPF in 2019. So yeah…it can run in the family. I am currently on the Lung Transplant list at Loyola Medical Center in Chicago….hoping for a new lease on life!

    • stacy-davenport

      May 25, 2021 at 9:47 am

      Thank you, Will. I’ve my fingers crossed for you and am sending some positive vibes in hopes for a successful lung transplant.


  • bruce-hawn

    May 18, 2021 at 3:17 pm

    My mother & grandmother both died of IPF. I am 3rd generation with IPF. I paid $3,000 to get genetic testing. Results were something they had not seen and so I have to get my telomeres tested if short most likely means familial an if not they will stick with inconclusive. Once I get my telomeres tested if they are short, then they can test my kids. Their tests at that point will only cost $100 each.

    • stacy-davenport

      May 25, 2021 at 9:49 am

      Thanks Bruce. Good to know.

  • steven mason

    May 18, 2021 at 3:39 pm

    Here is the answer to your question. If you like surprises then don’t get tested. But if you are like me–and you do not like surprises then don’t abate. Guess what——I got tested today–breath test only—I passed–97% before inhaler and 100% post. I plan on repeating this routine yearly—-except for the radiation scan. This is called a “peculiar death”–and yes it is genetic. Many people without exposure or smoking get it. it is in the code—fix the code.

    • stacy-davenport

      May 25, 2021 at 9:55 am

      I hear you Steven. My 83 yr-old mother continued to pass the walking and breathing tests after 4 years of horrible symptoms before they allowed her to have oxygen. which after, helped quite considerably. To be fair she wasn’t actually pushing pulmonologist for it as she thought she didn’t need it. she was Stubborn and thought it would be more of a bother.

  • debbie-wuest

    May 18, 2021 at 8:06 pm

    My mother passed away with IPF as well, she must of had it for years and never knew it, she lived  3 months after being diagnosed, her doctor said she was in the last stages when they found it. I was diagnosed with IPF in February 2021. I have seasonal allergies and sometimes end up with bronchitis. I had a cough that lingered for awhile, so I went to the doctor, she ask me if I had lung issues in my family. I told her about my mom, she sent me to a pulmonologist. My pulmonologist said IPF was very hereditary. I past all the breathing and walking test, she order a CT scan based on family history and sure enough I’m in the beginning stages of IPF. I also went to Duke for a second opinion too. They said the same. The doctor at Duke said I was early into my diagnosis and I wouldn’t be eligible for any trial studies. I ask about the genetic testing for my kids, he made it sound like, it was a waste of money having the testing done, he said you can test positive and never get it, or test negative and still get it. My mom’s brother and one sister passed away with IPF. The older sister past away with lung cancer. We often wonder if she had IPF and didn’t know it. My mother’s older sister that had the lung cancer has 3 children who had IPF, two have passed away and one had a lung transplant 5yrs ago and seems to be doing well. The scary part about all of this is no cure and the unknown of whats to come next.

    • stacy-davenport

      May 25, 2021 at 10:01 am

      Hi Debbie, with so many stories very similar to are and others who have posted here suppose we need to do what we can to call attention to  this horrible disease, especially if genetics are involved which I believe they are. It’s not good enough to be diagnosed and put on a waiting list eventually if one is deemed an appropriate recipient of someone’s donated lungs.


    • anjolie1

      May 28, 2021 at 9:26 am

      Yes, it’s hereditary in my family too.  I really had no symptoms except a dry cough which my Dr at the time didn’t think it was anything to worry about.  I changed Drs to one whose practice was mostly patients over 65.  He heard me cough just one time and immediately sent me for some tests which confirmed I have IPF.  I can’t tell you how many Docs I mentioned my cough to and none thought it was worth checking out.  I then remembered that my sister had a similar cough. Her Doc tested her and found she also had IPF.  🙁  We both grew up with an incredible amount of smoking in the home, not sure if that’s a factor.  Sadly, both my parents died young from lung cancer.  Guess they just didn’t know how dangerous smoking was til much later.  I don’t know if there’s any connection. between smoking and IPF but I wouldn’t be surprised if there was.

  • steven mason

    May 18, 2021 at 8:17 pm

    Daebbie–this is my issues with the hr-scan–I feel like I am going onto a coffin. I try and think of women in bikinis–but still I think of coffins. Second–I do not like the radiation. Third–I had one in nov 2019 and was negative—but now you are giving me second thoughts. Thr dr I saw in nov 2019–said the breath function test was better–because most people do not exhibit post 60 and she does not like the yearly radiation—-but this new dr recommended one.

  • regina-bolyard

    May 21, 2021 at 10:54 am

    Are any of you aware that 23 & Me is doing genetic research into IPF? As of 2 months ago they were hoping to recruit another  1000 volunteers. The testing is free if you qualify as a participant.

    • stacy-davenport

      May 25, 2021 at 9:29 am

      Hi Regina, thanks for letting us know about 23 & me research. I will look into it.


  • christie

    May 21, 2021 at 10:20 pm

    It’s cool that 23 & Me is doing that, and I hope they continue to make offer an accessible test. I’m so curious but I am also too chicken to get tested right now. I just gave labs today to test for auto-immune markers due to some non-pulmonary symptoms. If it comes up that I’ve got an auto-immune condition I might consider finding the courage to get tested. My mom had no risk factors at all, but she may have had lowkey autoimmune stuff going on or allergies that set off the IPF. Impossible to know, but if I end up having something like that I will probably want to know…

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