Amazing Cases

The patients we see in class are so inspiring, personally and medically. They remind us that as doctors or scientists, we know far from everything, and amazing things do happen.

Last week, we had a patient with cystic fibrosis-- one allele of the disease gene essentially had a mutation preventing its expression at the cell surface and the other allele had a premature stop codon. But with virtually no functional protein, usually presenting as cases with early degeneration, the patient we saw was well and active at age 20+.

Today we had a patient who had severe hemophiliac for 50+ years of his life, living through so many medical developments and setbacks (including the HIV/HepC transmission era by serum concentrate in the 70-80s), finally ending up with liver cancer. He also went through a huge ordeal to get a transplant, which finally happened earlier this year. The replacement liver was obviously from a non-hemophiliac and the endothelial cells produced the factor that body lacked. Now his cancer is in check, and for the first time in his life, cured of hemophilia.

Wow. My ears were popping out of my head when I heard that. How many people in the world, in history, have been CURED of hemophilia? How many get to survive with almost 100% quality of life homozygous for cystic fibrosis? Apparently people can... wow.