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Many cases of Adrenoleukodystrophy could be prevented by increased awareness of the fundamental facts about this often-lethal genetic disease.
Thanks to years of scientific research, the ALD defect can be identified in testing, either by screening women prior to becoming pregnant for carrier status or by conducting specific prenatal testing during pregnancy.
Many families who are experiencing the devastating effects of this disease have a similar spotty suspicious medical history.
Carrier status screening is currently performed on blood samples and can be done for under $200 within 2 weeks. However, this test does have a very low false negative rate. To do a definitive DNA test requires 4-6 weeks and costs between $329 and $1200, depending upon whether the family mutation is already known. For more information, contact the Kennedy Krieger Institute.
Expanding carrier screening and prenatal screening through a concerted, targeted approach aimed at educating the healthcare profession could yield dramatic results within two years. In particular, genetic counselors must be educated about probing for these seemingly obscure details in sometimes distant family medical history. The Stop ALD Foundation's Prevention mission aims to use existing professional organizations for these specialists to disseminate key information about this approach to screening. Scientists at Johns Hopkins University have recently developed an experimental blood test for ALD, and the Mayo Clinic is preparing a study to find out if the test can effectively be used to screen newborns. (However, once the screening test is validated, that only means that it will be available; it may not necessarily be required as part of standard newborn screening.)
Heightening awareness of ALD among the general public requires a somewhat different approach. The Foundation intends on consulting with organizations such as the AMA, the Surgeon General, pharmaceutical companies, and others for guidance towards the most rapid, effective, and economically feasible strategies to heighten awareness. We have distributed Avoiding the Misdiagnosis of ALD, a comprehensive report detailing the medical presentation of ALD along with information regarding diagnosis, common misdiagnosis, treatment and prognosis, to more than 15,000 physicians throughout the U.S., with a special focus on pediatricians.
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