A new twist in my journey: Familial idiopathic pulmonary fibrosis
My brother's diagnosis raises a new set of questions about our illness
The best-laid plans of mice and men often go awry. That line is adapted from a 1785 poem by Robert Burns titled “To a Mouse.” I had an entire month of columns planned for this Pulmonary Fibrosis Awareness Month, but that plan went awry.
When I wrote my column last week, I started by telling you that I hate this disease. This week, I want to tell you that I hate it even more. I didn’t think it was possible, but it is. As I was filing that column, my brother Mark let me know that he was diagnosed with idiopathic pulmonary fibrosis (IPF), just like me. He sent me a text message while he was still with his doctor.
I’m the oldest of three boys, followed by Mark and the youngest, Wayne. When my dad passed and my mother remarried, we were joined by four stepsiblings. Three of them passed away either directly or indirectly from another rare disease, spinocerebellar ataxia type 3.
Before my diagnosis, we didn’t have a family history of pulmonary fibrosis, at least not to our knowledge. Our dad did have chronic obstructive pulmonary disease, but that illness is neither contagious nor hereditary, except in very rare cases. Pulmonary fibrosis, however, can be hereditary. Perhaps someone in our genealogy passed on the disease, though sadly, it may have been undiagnosed. A person can be diagnosed with familial pulmonary fibrosis and the causes could still be idiopathic, or unknown.
Familial idiopathic pulmonary fibrosis is rare, occurring when two or more biological family members have the disease. The cause may still be unknown, but in our case, we have some new avenues to explore.
Now what?
Mark is waiting for an appointment at the University of Alabama, Birmingham, which is his closest Pulmonary Fibrosis Foundation (PFF) Care Center Network site. I’m asking him to enroll in the PFF Community Registry.
Much of my family, both my immediate family and my extended family, have followed my journey. Mark’s diagnosis starts a new chapter. While I’ve learned so much about IPF over the years, I still have much to learn with this new twist. There are questions I want answered now, not only for my knowledge, but also for my family.
- Can a genetic irregularity we have be identified or isolated?
- Are there other genetic mutations that seem to be common between my brother and me?
- Is that genetic sequence still present after my bilateral lung transplant?
Almost two years ago, I wrote a column titled “Being idiopathic: Solving the mystery of my diagnosis.” Last week, my desire to further unravel that mystery was renewed. Can a researcher work with us to help us and others better understand this disease? What are the important indicators I need to share with my family members?
As you can see, I have many unanswered questions, and with this new chapter, I want answers. I’ll share what I learn with you here. I’ll also update you on how my brother is doing, as long as he’s comfortable with me sharing his journey. Finding answers is how I plan to make every breath count.
Note: Pulmonary Fibrosis News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Pulmonary Fibrosis News or its parent company, Bionews, and are intended to spark discussion about issues pertaining to pulmonary fibrosis.
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Comments
Craig Decker
I also have familial PF, as does one brother and a cousin. . And our father and uncle died of it a while back. While there’s no doubt it must be familial, we have yet to find the genetic link. For the sake of our children and grandchildren I hope research will uncover the identifying gene, and eventually find a cure. Keep us all posted on any progress!
Mary Young
We have familiar pulmonary fibrosis in our family. One gene that we do share is the muc5b gene. You might want to check and see if that's the gene you guys have.
MARILYN WILL
Thank you for this post. Two of my siblings who are now deceased had ipf and I was diagnosed 2 years ago. I do not have an official diagnosis of it being familial, but that certainly looks like what it must be.
James Price
I was diagnosed with idiopathic pulmonary fibrosis by an incidental CT scan last July. I did not go to a pulmonologist until January of this year. She explained that I was early in the disease and my pulmonary function test showed mild impairment. A enhanced CT scan verified that I did have scarring but it did not show any honeycombing or severe scarring. I immediately started Pirifinadone in February. I have had one really bad sunburn which was my fault because I did not put on sunblock. Other than severe itching Ion and off I have had very few side effects.
My older brother died of Idiopathic pulmonary fibrosis six years ago. His was caught later in the of the disease and died at the age of 76. He did not take either of the approved medications because of the possible side effects. He live three years after diagnosis and was put on oxygen within six months. As far as my extended family can tell he was the first in my family to have this disease. The Dr. suspects a familial connection. I am not convinced of this however. We were raised in a block that had a grain elevator, flour mill, and a cast iron foundry that burned coal without pollution controls. We used a clothesline as a dryer and my mother often had to wash our clothes on a bad pollution day. We had air pollution from both plants daily for the 1st 22 years of my life. I also used a CPap machine for 10 years that was recalled because the foam insulation broke down and was put into the flow of the machine for who knows how many years. I am part of a class action suit against the manufacturer of the C pap. My brother worked in several industries that used harsh chemicals and I suspect this could have been the cause of his illness. He also worked for 30 years making tarps, tents, and boat covers. The dust and fibers from that type of work could have been a contributing factor for his disease.
Now for some good news, I had a pulmonary function test in July that came back completely normal. My doctor was astounded by that result she said she never had a patient get better. As we know the two medications that are approved just slow down progression. I know that all of us with this dreadful disease face an uncertain future but I feel blessed that I caught it early, was put on medication asap, that the only signs I am exhibiting now are abnormal scans and the crackling in my chest that my doctor hears when she listens to my lungs. My blood oxygen is usually 96 to 98 even after exercise. I feel hopeful about the many medications that are in trials right now that show promise of slowing the disease down slower than the medication that I am on. There are some that show the possibility of reversing some of the scarring. I appreciate pulmonary fibrosisnews.org about the disease we face and to share with each other our personal stories with others battling this disease. Live one day at a time and feel blessed for each day we have as we adapt to our journeys with pulmonary fibrosis.
Brenda Urbanski
I am newly diagnosed, I so appreciate your story. I have 3 siblings and a first cousin with this disease. Genetic testing to be done as we have no answers yet
Bonnie C Thompson
My mother had COPD(perhaps misdiagnosed) and my sister died of Pulmonary Fibrosis caused by hypersensitivity Pneumonitis. That is also my diagnosis. I also have wondered if it is familial though I have not been told that it is. My sister and I just assumed we had inherited a weakness that made us more susceptible to lung disease because we both had pneumonia frequently before we learned about PF.
Eva
As always I enjoy reading your columns , however this one about familia IPF is very interesting to me. I’ve had it for the last 13 yrs , my mother and younger sister died of it and I have 2 other siblings that have it. I appreciate all the information you can share with us .
Jim Reinertsen
There is definitely a familial link to this disease in some cases. My cousin had it and passed away 2 years ago from an unrelated cause. His mother had a similar lung disease and my father was found to have a lung issues that was found during an autopsy after his death at the age of 77. My cousins mother and my father were brother and sister and there youngest brother died of lung disease at 58 which was attributed to lung cancer and other lung complications which could have been PF. Too much for coincidence.
I too am fortunate to have been diagnosed early. I can still swim for an hour at a time 3 to 4 times a week,albeit not at an olympic pace,and my last two check ups have not shown any negative progress(kind of an oxymoron) in the disease, PTL. For those who are struggling with the thought of going on Esbriet or OFEV 150 or 100mg due to the side effects all iI can say is do it. I have days when I cannot stray too far from a bathroom and if I have to travel or have a multi day event I go off the meds for that time without a problem. These meds are the real deal and hopefully they can slow the IPF progression enough to give us some time until some of these new meds get approved.
Many words to say that yes it is definitely familial in some cases and if you have access to Esbriet or OFEV take it and be flexible with your lifestyle to work around the side effects. God bless you all and hang in there.