Saturday, October 10, 2009

Sam and Jackie Cushing's episode on Mystery Diagnosis

Jackie (samsmom) first started dealing with Cushing's in her family when her youngest child was born in 1999.


Jackie has appeared on the Discovery Health tv show pilot, Mystery Diagnosis, discussing her fight for a cure for her younger daughter, as well.

Download from amazon.com: Mystery Diagnosis


Later at the NIH, the gene (PDE11A) responsible for Sam's illness was found. Her father carried the gene as did her two sisters.


Sam's doctor at NIH, Dr Stratakis has written several papers on Sam's case including one that was published in April, 2008. For more on PDE11A or iMad, please see A cAMP-specific phosphodiesterase (PDE8B) that is mutated in adrenal hyperplasia is expressed widely in human and mouse tissues: a novel PDE8B isoform in human adrenal cortex.


Jordan, Jackie's oldest daughter, has recently had her adrenals removed. She had one removed laparoscopically and the other was an open adrenalectomy. She participated in this Interview.


Read Jackie's bio
Listen to Archived Interview from May 15, 2008


NEW! Download from amazon.com: Mystery Diagnosis