Rachel Cowden: the First Person Diagnosed with Cowden Syndrome and a Diagnosis We Both Share

The HeLa cell has Henrietta Lacks, Lou Gehrig's disease has Lou Gehrig, and Cowden's Syndrome has Rachel Cowden. For the approximately 1 in 200,000 people with Cowden's Disease, the name Cowden takes on a special importance. Cowden Syndrome was named for the family of the first person named to have the condition'"the aforementioned Rachel Cowden.

My search to learn I had this condition took more than twenty years. An existent disease will have a person who is first diagnosed but for those affected by Cowden's Disease, Rachel is the one. Her case opened the door to further study about our condition.

An Internet search for Rachel does not reveal much. I know from outside research she was seen for a breast lesion by physicians at Youngstown Hospital Association, Ohio in March 1962. Physicians discovered she had a number of traits involving different disciplines of study including, in part but not limited to, adenoid facies, furrowed tongue, thyroid adenomas, breast hypertrophy, and bone cysts. Her maternal family history was positive for breast cancer, thyroid goiter, small skin tumors and more. Further testing over the next forty-plus years would give name to those skin tumors'"trichilemmomas and those tumors became pathognomonic, or self-naming of the condition.

Though Cowden's Disease now falls under a more umbrella term of PTEN gene mutations including Bannayan-Riley Syndrome, Proteus-Syndrome, and Proteus-like Syndrome, it is a term we with PTEN mutations encounter. Though it is easy to find the fact that the condition was given a young woman's surname, it is difficult to find information about the woman who was first diagnosed with the condition.

Rachel Cowden was a human being, like all of us. A medical picture taken of her in what is presumed to be 1962-1963 shows her in stylish 1960's glasses. She had likes and dislikes but did not have the knowledge of PTEN related disorders we are privy to in 2011. Approximately ten years following the pilot study on Cowden Syndrome, she succumbed to ductal carcinoma invasive. She was approximately 30 years old'"the same age I was diagnosed with ductal carcinoma in situ after being careful due to a recent diagnosis of the condition.

Yes, I am grateful for Rachel and her family.