It’s an all too familiar story in the rare disease world. One that starts with mysterious symptoms and a medical odyssey, only to end with a devastating diagnosis.  Only in this case, there was not one, but six diagnoses.  All in one family. 

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When Frani, Patrick, and Vinnie’s mother, Marian, was in her mid-thirties, she began displaying symptoms of what has now been diagnosed as ALD.   Her initial symptoms, which remained mild for many years, included loss of balance and numbness in her legs and feet.  But as the years went on, her symptoms slowly worsened, and eventually, when Marian was in her late forties, she needed the use of a cane.  She consulted specialists throughout the country, but her symptoms baffled doctors.  It was only when her son Patrick, then in his mid-twenties began exhibiting similar, but faster-progressing symptoms, did doctors suggest a possible genetic disorder - hereditary spastic paraplegia.  But it was only a possibility.  And the wrong one.