UPDATE – Thrombosis Has Deeply Impacted My Family: Gerry’s Story

UPDATE – Thrombosis Has Deeply Impacted My Family: Gerry’s Story

Gerry originally shared his story with us in 2021. He recently shared an update. 

Thrombosis has done a terrible number on my family:

  • My father died at age 54 of intestinal blot clots after many years of significant heart disease.
  • My brother died of a pulmonary embolism at age 55 after repeated PEs beginning in his 20s.
  • My niece suffered a cerebral venous sinus thrombosis at age 26 and was in neurological intensive care, then spent months in inpatient rehabilitation. She is now on Warfarin and has had no incidents since then.
  • In April 2021, my 36-year-old nephew died of a heart attack apparently caused by PE. He had DVTs beginning in his 20s and was periodically on an anticoagulant.

I have been the luckiest member of my family with respect to this scourge. I had my first DVT at age 48 and another at age 54. I have been on Warfarin for the last 17 years without problems.

Following my nephew’s memorial service, I decided to get tested for all the known genetic risk factors for thrombosis.  Over the years, different Tracy family members have been tested for some of commonly known genetic risk factors (e.g., protein c deficiency, antithrombin deficiency, Factor V Leiden). No one in the family has tested positive for any of these known risk factors. So, I wanted to know whether I carry lesser known or unknown thrombosis risk factor(s).

I connected with a well-respected Yale hematologist. He first tested me on the 16 most common thrombosis genetic risk factors. No positives turned up. He then suggested that I do a newer, more comprehensive test called whole-exome sequencing (WES) to analyze a much larger group of potential genetic risk factors (96).

My WES testing identified that my system has a mutation in the important SERPINC1 gene that encodes antithrombin (blood clotting). This is a previously unidentified variant of SERPINC1. Several other previously identified mutations of SERPINC1 have been shown to cause thrombosis.


Recently, my family established a research project with Smilow Cancer Hospital, which is affiliated with Yale Cancer Center. The next step in the process is to test my other family members to learn whether any of them have this same SERPINC1 mutation, and then evaluate whether the mutation may cause the thrombosis that has so harmed our family. We will keep trying until we locate the cause(s) of this family curse.

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