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Story of the Month
Oculopharyngeal Muscular Dystrophy (OPMD)
My OPMD journey started 20 years earlier when I was in my 50s.
In early 2021, I was diagnosed by accident with Fibrous Dysplasia (FD)/McCune Albright Syndrome (MAS).
I was diagnosed with Epidermolysis Bullosa; the obstetrician noticed I was missing skin on my feet, the front of my legs and the inside of my arms.
Genetic testing unveiled a mutation on the SCN2A gene which is almost certainly causing Lachy’s severe autism, intellectual disability and hypotonic c
On the 21st December, 2015 Eva was born. Instantly, things were not right. I was laying awake in the hospital listening to other babies cry but mine d