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