Julie Cohen, ScM, genetic counselor in the Center for Genetic Muscle Disorders at the Kennedy Krieger Institute in Baltimore, Maryland, answers some commonly asked questions. Q. What is the genetic cause of FSHD? Let me begin by saying that the genetics of FSHD is quite complex! There are two types of FSHD, called Type 1… Read More »
FAQs about genetic testing for FSHD
FSHD goes to school
by Kristin Zwickau New England Chapter Director Having a child diagnosed with a complex, serious disease that causes disabilities is a very hard reality for parents to deal with, let alone for the child who faces it day in and day out. Our daughter, who was diagnosed at the age of 6, is mobile, but… Read More »
We Are Not Alone
BY DAVE LUKAS CRYSTAL LAKE, ILLINOIS The inaugural Chicagoland Walk & Roll to Cure FSHD exceeded every expectation and goal I had. What an amazing day filled with family, community, music, great food, fun, and picture-perfect weather! We had 230 walkers (my goal was 150). We raised $43,301 (my goal was $25,000). But more than… Read More »
AFOs with a sparkly dress
BY ALEXANDREA COMSTOCK LETHBRIDGE, ALBERTA, CANADA I grew up not knowing what was wrong with me as I faced the consequences of what I eventually learned was early-onset FSHD. I had foot drop. I couldn’t close my eyes. I had severe scapular winging, scoliosis, and lordosis. People called me “duck” and would quack at me…. Read More »
A Monument of Pearls
BY BELINDA MILLER MANASSAS, VIRGINIA The United States contains some of the most magnificent monuments in the world, both natural and human-made. But few compare to the state of South Dakota’s Mount Rushmore – the massive granite crag sculpted to honor some of our most iconic leaders. A lesser-known South Dakotan, but equally impressive, is… Read More »