A woman with a genetic defect so rare that it doesn’t have a name yet, 42-year-old Joselin Linder is a carrier of what’s known as an “orphan gene” a genetic defect that could have fatal consequences. Only 14 people have ever had this condition, and they’re all related to Linder. Five of them have died.
“There are days I have to force off my fears in order to get out of bed.” she tells the NY Post in an exclusive interview: “And there are other days when I know that being this near death reminds me how much I love life. It makes every part of every day something I am joyously grateful for.”
The first signs of her illness appeared before any actual symptoms. Her father, a small town midwestern doctor, passed out and hit his head after taking some anti-swelling medication. He received stitches for a wound on his head but was sent home with an otherwise clean bill of health.
Then one day at work he found he couldn’t breathe. An ER doctor inserted a tube into his chest and out flowed a viscous substance: pure lymph. When lymphatic fluid leaks in the body it’s a sign of serious illness, but Linder’s father baffled doctors. After countless test they could find no defects in any of his organs.
Linder’s great aunt provided the answers in the form of her deceased husband’s medical chart. It revealed the problem was in their genes, that a genetic defect affects the portal vein in the liver. Sufferers cannot digest protein and as the condition worsens they starve to death.
Linder’s father died at 49 years old, his autopsy revealed years of fatty lymph pooling had essentially fused his organs together.
A year later Linder and her sister Hilary were tested for the disorder. The results came back positive for both of them.
It was Dr. Christine “Kricket” Seidman who diagnosed the Linders and the one they initially reached out to for help as their father’s health declined. Seidman, a genetics researcher from Harvard University, is now on the hunt for a cure.
Linder at TEDx in 2014
Seidman believes they will be able to cure Linder’s condition in her lifetime. Meanwhile life goes on. Both Joselin and Hilary are married. Hilary was able to have two children born free of the condition thanks to an in vitro fertilization procedure.
Joselin meanwhile can’t carry children due to the swelling as a result of her condition. She lives in Brooklyn with her husband Aaron and their two dogs.
Linder has written a book, The Family Gene, due out in mid-March about her experience carrying this deadly gene.
“Sometimes I think that — if my life is long — having spent it with this kind of awareness, and everything I know about my body, will have been a gift.” she says.
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