In our earlier discussions with Bo, there was a chance that we would be attending the Annual Clinical Genetics Meeting. The Annual Clinical Genetics Meeting is hosted by the American College of Medical Genetics( http://www.acmg.net/ ).
The ACMG Annual Clinical Genetics Meeting is the most important meeting in the clinical and medical genetics arena – complete with cutting edge science, practical clinical applications and a display of the latest services, technology, and medical advances in this rapidly growing medical specialty.
The ACMG Annual Clinical Genetics Meeting attendees are of the highest caliber in the field of clinical and medical genetics, they are the buying decision-makers for the products and services utilized in their facilities and in their practices, and they view the exhibit hall as a logical extension of the educational experience of the meeting. Exhibitors experience an unmatched setting for communicating the latest developments in genetics through their booth displays and educational sessions offered in Exhibitor Laboratory Theaters and Industry-Supported Symposia.
Bo was working with the the Society of Inherited Metabolic Disorders( http://www.simd.org ) who are participating in the Annual Clinical Genetics Meeting (ACMG). Bo had suggested that it might not be a bad idea for Angie and I to go to be there as a patient presence for CTX. It is going to be held in San Diego on March 23rd through March 26th.
He also gave us a list of other Doctors in the US who know about CTX. We are going to be contacting those Doctors to get them involved with our efforts. We ended up getting in touch with with a representative from SIMD and were told that it would not be the best use of our time and money to attend this conference, that many Doctors are foregoing the San Diego conference and instead are attending the world conference in Japan. We will not be going to that one unless we get full sponsorship and even then it’s a tossup. We will continue to look into this as the time draws nearer to this conference.
We have sent contact letters to all of the patients that Dr. Salen sent us and are beginning to get some responses back. Some of the stories are quite tragic and it’s apalling to us to hear how many people are not taking CDCA and don’t even know where or how to get it. Many of these folks don’t have access to modern technologies such as computers or internet to be aware of these things and it seems that their physicians and caretakers are dropping the ball when it comes to their care.
In addition, someone whom I’ve had no previous contact with has contacted me in regards to a CTX patient they are working with who is in the same situation. I have sent them Jim Bona’s contact information so that they might be able to get help for this patient.
One of the first things we want to do is compile all of the stories we get together so that we can compare the road to diagnosis for each patient . This will hopefully show us some of the other areas where improvement is needed in the medical field for this disorder.