Founder and Chairman of the Board of Directors (Volunteer)
I grew up like most boys – active, smart and king of the playground – with a love for baseball, soccer, and wrestling. But at 15, playing for a state soccer team, I broke my ankle then, after rehabilitation, broke it again in the same place, which is highly unusual. My parents scheduled a visit with the family doctor who, after reviewing and researching, diagnosed me with CMT. In search of confirmation, many appointments were scheduled in the US and in Europe, but the answers were the same.
One doctor in NY told me that I’d be wheelchair bound by the time I was 30. A doctor in Luxembourg’s advice was, “Use your brain, enjoy life, as you do not need to hit or kick a ball to be successful.”
Since there was no prior instance of CMT in my family, we were scared, confused and angry.
Where did this come from if CMT ran in families? After an extensive search which included familial DNA sequencing, I was told my genes spontaneously mutated upon conception and CMT was the wicked result. I am still awaiting confirmation of the gene which causes my type 2 CMT.
I largely ignored my CMT throughout my late teens and twenties. I stayed fit and active, took up golf, even as my legs weakened, putting me in braces when necessary.
In 2006, as part of the patient advocacy group CMTA, I recognized that the traditional methods of finding a treatment or cure for CMT, were not yielding results. There needed to be better communication and coordination between researchers and pharma companies so that knowledge was more quickly shared and there was less duplication of efforts. We brought together all stakeholders including CMT patients, CMT experts, CMT clinicians, and one pharma representative and challenged ourselves to create a program with accountability, collaboration and real-time communication of CMT research and full transparency, in exchange for full funding of identified projects. The result of this work was the Strategy To Accelerate Research (STAR). It was an important step and is still at the foundation of how CMTA administers its research funding.
Today, I believe that technology, new research tools and innovative funding mechanisms can accelerate the pace of progress even more, so we have created the CMT Research Foundation. CMTRF is exclusively focused on funding the discovery and development of treatments and cures for CMT. Our approach again combines investment in the most promising research with a commitment to accountability, collaboration and transparency. Our scientific advisors evaluate a wide range of projects for funding and when companies have promising research, we match them with disease experts to streamline and expedite development. With academic projects we help match researchers with experts in drug development.
As a result of STAR and the very important work of organizations like CMTA, the Hereditary Neuropathy Foundation, the Muscular Dystrophy Association among others, more has been accomplished in the past 5 years towards finding effective treatments and a possible cure than ever before. With the creation of the CMT Research Foundation, I see light at the end of the tunnel. Robust efforts being made by researchers on CMT 1a, 1b, 1x, 2a, 2e, and 4 in partnership with biotech and pharma companies, should give the CMT community hope!