In keeping with my paternal roots in Yarmouth County, there are a number of genetic disorders that continue to be followed.
Niemann-Pick (Type D) refers to a group of fatal inherited metabolic disorders. This disease has been traced back to Joseph (dit d'Azy) Mius and Marie Amirault, my direct line.
Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)
Genetic and demographic aspects of Nova Scotia Niemann-Pick disease (type D)
Genetic and Demographic Aspects of Nova Scotia Niemann-Pick Disease (Type D) PDF document
I had the distinct privilege and honor of meeting a cousin stricken with this disease in July 2002. Such a brave and mightyspirit who transitioned on January 15, 2003, at the age of eighteen.
I was so awed by her silent strength that I made mention of her in the Dedication segment in my novel, A Travel in Time to Grand Pré.
Another disorder worth mentioning herein is Alström Syndrome, which is among the rarest genetic disorders in the world.
With a direct line of descent from Michel Doucet and Marie Suzanne Muise, I was contacted by Jan D. Marshall of the Jackson Laboratory when I first began delving into my Doucet ancestry some 15+ years ago.
If you share these same ancestors, please make email contact with Jan at the Jackson Laboratory in Bar Harbor, Maine.
Alström Syndrome International