With frequent new discoveries that have the potential to advance our mission to find a cure for Charcot-Marie-Tooth, it is critical to stay informed and involved. In addition, staying connected to our community increases our strength and raises our collective voice!

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H.E.L.P. Card Party CMT2A Fundraiser

On Friday January 29, 2016 H.E.L.P. Fund supporters came together for the 7th annual H.E.L.P. Card Party at Broken Sound Country Club, Boca Raton. Event hosts Iris and Nat Adler started the H.E.L.P. Fund (Help Elliot Live Proud) back in 2007 to benefit CMT2A, in honor...

Accepting Myself for Who I Am

Growing up, I always knew I was different than my friends. I couldn’t run fast, tripped often (the scars on my knees are a reminder), was lousy at any sports-related activity, and was generally weak and uncoordinated. My friends accepted me as I was and didn’t really...

The Long Road to Diagnosis Renews Dedication to Advocacy

Growing up we called it “Steffi disorder.” My friends and family were as baffled as my expert neurologists. I had been diagnosed with typical Spiral Muscular Atrophy (SMA) as a toddler but never followed its progression; I never seemed to get weaker. My myriad of symptoms was distinctly different than anyone else’s I had ever met in a lifetime living in the neuromuscular community. I thought I might never find my true diagnosis, let alone others who share it with me.

A New Mouse Model for Charcot-Marie-Tooth (CMT2)

We were recently informed that The Jackson Laboratory (JAX, a nonprofit biomedical research institution headquartered in Bar Harbor, Maine) had taken delivery and will be distributing a newly generated CMT-related mouse model. The new model expresses mutant mitofusin 2, a mitochondrial membrane protein involved in mitochondrial fusion and regulation of vascular smooth muscle cell proliferation.

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