Letters to the editor: January 11, 2019

Letter to the editor: Year in Review

I read with great interest the AJT’s feature, Year in Review. A great variety of significant and relevant stories, which captured 2018, were shared with the AJT’s readers. I have to marvel at what’s going on in the Jewish community and how well it has been covered and reported by the Atlanta Jewish Times. Thanks for all you do, and I look forward to more of the same in 2019. – Jerry Schwartz, Alpharetta

Letter to the editor: Watch Out for MS Misdiagnosis

A disease associated with Jews of Ashkenazi ancestry (AJ) often is misdiagnosed for multiple sclerosis (MS).

In adult polyglucosan body diseases (APBD), gene mutations cause the build-up of starch-like bodies in the neurons of brain cells and block normal brain messaging. This blockage of brain messaging results in neurologically-related health problems and even premature death. For AJ, 1 in 48 are carriers.

In “Frequent misdiagnoses of adult polyglucosan body disease” in the Journal of Neurology in July 2015, Mark Hellmann and others studied APBD patients retrospectively. They concluded that misdiagnosing of APBD for MS (and other diseases) stems from “physicians’ unfamiliarity with the typical clinical and imaging features of APBD,” and that 17 percent of these APBD patients were first misdiagnosed with MS.

Also causing diagnostic difficulty, APBD mimics MS in two main ways. First, early signs of APBD are similar to those of MS, including fatigue, numbness, neurogenic bladder, spasticity, and gait difficulties. Second, as with MS, APBD health problems typically start in early adulthood and progressively worsen.

Many members of the APBD Research Foundation experienced their local physician misdiagnosing APBD for MS. It took them an average of 9.2 years to receive an APBD diagnosis from the first sign of the disease. Their corrected APBD diagnoses occurred with prestigious physicians.

The APBDRF has underwritten the use of an at-home saliva collection kit for MS-diagnosed AJ to genetically test for APBD. To inquire about this convenient saliva kit, please send an email to info@apbdrf.org. A Columbia University lab will perform the test and confidentially send you the results. – Lawrence Schwartz, Atlanta