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Patricia Weltin of Rhode Island and her two daughters have had a difficult time achieving an accurate diagnosis for her daughters’ medical issue.
An accurate diagnosis is essential before a helpful treatment plan can be devised. Without an accurate diagnosis, any treatment attempted is a shot in the dark. Well-meaning medical professionals may make educated guesses as to how to proceed, and often that instinct is all that exists to guide us. However, with advances in medical diagnostics and genetic testing, there are new ways to pinpoint the underlying problem.
Joyce and Robin speak with Patty about this one journey and what she has learned from this experience that might be helpful to the next family going through such a process. Don’t worry about the details, just listen to the strategies she used to pursue better answers for her daughters.
See also http://rarediseaseunited.org/
For more information about Ehlers-Danlos Syndrome (EDS), see https://rarediseases.org/rare-diseases/ehlers-danlos-syndrome/
For more information about Hypermelanosis of Ito (HI), see http://www.geneticalliance.org.uk/docs/translations/english/hits-info-booklet-readable.pdf
For online support groups with knowledgeable moderators (like Robin and Joyce), see
http://smartpatients.com
http://inspire.com
