Wednesday, March 16, 2022

03/16/2022 Diagnosis

 03/16/2022

Dr. Hollinger called to bring us into his office to discuss Jacob's genetic blood test.

When we arrived, we were taken straight back to a private room, where Dr. Hollinger disclosed Jacob's diagnosis. A generic form of ALS (amyotrophic lateral sclerosis or Lou Gehrig's Disease). 

We were not sure what his diagnosis meant, so we asked the doctor. He told us that most people with this diagnosis live 2 to 5 years. As Barb and I cried, Jacob grabbed his head and shouted no! Then my wife and I watched a peace wash over him… and through all of this, he never shed a tear.

The specific diagnosis, which was revealed from the Mayo Clinic genetic blood test, was a mutation of the FUS Gene (Fused in Sarcoma)... We would later learn that the 2 to 5 year life expectancy was reduced to a 1 to 3 year life expectancy, due to the aggressive nature of this genetic mutation. Dr. Hollinger encouraged us to seek a second opinion, and recommended Dr. Robert Neel at the University of Cincinnati.



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