By Gary Gasper, CMTA Board MemberNearly nine years ago this summer, my wife and I received the diagnosis that our son had CMT 1A. My son did not directly inherit the disorder; rather, it was “de novo” or a new occurrence of CMT within our family. Like most parents without the disorder, we knew nothing about what the diagnosis meant to my son and my family. It would be an understatement to say that it changed our lives dramatically.
I immediately went on line to search for as much information as I could about CMT 1A. While there were many articles of a general nature, and some information on NIH and other websites, what caught my eye was the website and information from the CMTA. I read how they were working with Congress to get language in an appropriations bill that would support CMT research. As someone who works in Washington, DC, I immediately gravitated to the idea that maybe there was something I could do to help the cause.
I quickly contacted the CMTA and became active in the organization, soon joining the Board and becoming Treasurer. This was the early days of CMTA research. Over the years, and particularly in the last 5 years, the CMTA has made enormous strides in the organization as a whole and in the research area in particular. As new leadership unfolded at the organization, new ideas for research blossomed. The “STAR Program—Strategy to Accelerate Research” grew out of a strategic board meeting in Palo Alto, California, where the Board brought in an expert from the Myelin Repair Foundation to discuss a new approach to research. Rather than funding research projects haphazardly based on traditional grant writing procedures, the new direction would establish a targeted, well-defined approach that would methodically lead to a drug treatment. Thanks to the CMTA medical advisors, a step-by-step plan was put together that led to the ongoing, coordinated work with the NIH and the current successes to date.
As you may know from reading about the STAR Program, we now have a number of FDA-approved compounds that have been shown to reduce PMP-22 in cell lines. For those non-medical folks like me, PMP-22 is the peripheral myelin protein (PMP) that is overproduced in CMT 1A patients. The goal is to reduce the expression of this protein.
The next steps are to test these compounds in animal trials, develop stem-cell–related tests, and then move the process to human trials. All of these efforts, of course, cost money that the CMTA is committed to funding.
The main goal of the CMTA is a world without CMT. The goal inherently involves research efforts that go beyond supporting the status quo. It is only through research discoveries that we can find drug treatments and therapies that will help everyone with CMT. When I first discovered my son had CMT 1A, I did not know what I could or should do to help. I got involved with the organization and contributed to its efforts. These actions were well worthwhile and gave me a sense of involvement in doing something to help my son.
As each of us worries about what more we could do to help our children with CMT, we may sometimes think about sending in contributions but then dismiss the thought as not really making a difference. I can tell you any contribution to research makes a difference. So as you think about what you can do to help children with CMT, I urge you to make a contribution, no matter what amount, to CMT research and, particularly, the STAR program. We will only get life-changing treatments with your help.