On December 13, 2006, my 5 year old son died from an as yet UNDIAGNOSED disease. While he was alive, I sought in vain not only for a diagnosis, but doctors who were handling similar cases so as to promote collaboration on his case and provide information on his case to help others like him.
I have found that there is no one organization to which undiagnosed medical cases are reported and that because of this there is no central location for information on these cases to be collected and analized so that the numbers and types of undiagnosed cases can be realized. Only those cases with a diagnosis are recorded, tracked and analized to the benefit of those diagnosed with common or rare diseases. In our current system, if a person does not have a diagnosis, they are not on anyone's radar.
To illustrate this, the National Institute of Health (NIH) estimates that 25 million Americans have rare diseases. A rare disease is one that affects less than 200,000 people. The National Organization for Rare Diseases (NORD) did a survey of individuals diagnosed with a rare disease and found that 36% remained undiagnosed for one year or longer, and 1-in-7 patients remained undiagnosed for six years or more. The point to take from this is that it was not until the individuals surveyed received a diagnosis that thier case information was recorded. Those individuals still seeking a diagnosis are not on anyone's radar. They don't exist because they don't have an identity - a diagnosis.
To further illustrate the problem, according to the National Human Genome Research Institute cites on its website, "finding an underlying diagnosis for many conditions can be a very long and frustrating experience. A diagnosis can take as many as five years, and occasionally may never happen, especially with rare conditions. In addition, some experts say that between 30 to 40 percent of children with special needs do not have an exact diagnosis." See: http://www.genome.gov/17515951.
In my quest for a diagnosis for my son, the specialists that saw Cal cited varying statistics on the numbers of children they were able to diagnose. The Genetics Counselor at The Texas Children's Genetics Clinic told me that they are only able to diagnose 50% of the children they see. To say that this statistic is alarming is an understatement when you consider the fact that this clinic is the largest clinical genetics clinic in the country, offering families the latest diagnostic and clinical resources available and that its physicians are faculty in the Department of Molecular and Human Genetics at the Baylor College of Medicine. This clinic sees more than 3,000 families each year. It has 18 board-certified medical geneticists, 2 board-certified genetic counselors and 6 genetic nurses and it receives more grant support from the National Institutes of Health than any other genetics department in the U.S. Yet they can only diagnose 50% of the children they see.
Cal's Neuromuscular Specialist with the University of Texas Physicians Group told me that he is only to diagnose 40 - 60% of the children he sees. A friend of mine who has a son who is undiagnosed told me that his Biochemical Geneticist at Nemours Children's Clinic stated that 40% of pediatric cases never receive a diagnosis.
Because of these issues, I contacted U.S. Representative John Carter and told him that a National Registry needed to be created so that cases of undiagnosed diseases could tracked and invaluable information collected for the purpose of facilitating the early recognition, prevention, treatment, cure, and control of such diseases.
On May 21, 2009, Representative Carter proposed H.R. 2538: The Charles August "CAL" Long Undiagnosed Diseases Registry Act of 2009, in honor of my son. If passed, this legislation would require the CDC to create and maintain a national registry of cases with an undiagnosed disease. The "CAL Registry"
Once the CAL Registry has been established and sufficient data collected, then viable information and statistics can be used to promote research, find diagnosis, identify and allocate resources for those with an undiagnosed disease and provide those who are undiagnosed with hope.
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