[Mike Montague]

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.

[Mike Montague]

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.