'Doctor Google' ending the diagnostic odyssey in lysosomal storage disorders: parents using internet search engines as an efficient diagnostic strategy in rare diseases

Abstract

The expansion of the internet has resulted in widespread availability of medical information for both patients and physicians. People increasingly spend time on the internet searching for an explanation, diagnosis or treatment for their symptoms. Regarding rare diseases, the use of the internet may be an important tool in the diagnostic process. The authors present two cases in which concerned parents made a correct diagnosis of a lysosomal storage disorder in their child by searching the internet after a long doctor's delay. These cases illustrate the utility of publicly available internet search engines in diagnosing rare disorders and in addition illustrate the lengthy diagnostic odyssey which is common in these disorders.

Internet Self-Diagnosis in Hand Surgery

“…There are also Internet sites with programs that attempt to guess the patients diagnosis based on their symptoms [12,17]. Some patients are successful in finding the correct diagnosis through the Internet, in some cases identifying rare diseases that their physicians had not yet considered [4]. In fact, a study examining a sample of the clinicopathological case conferences that focused on diagnosis rather than management from the 2005 volume of the New England Journal of Medicine found that Google searches with a select three to five key terms correctly diagnosed 15 of the 26 cases [15].…”

Rare diseases in general practice: recognising the zebras among the horses

“…charite.de/phenomizer_orphanet/). 7,8,9 The differential diagnoses generated will then inform subsequent investigation and referral, advice is normally readily available from clinical genetic departments or, if an inborn error of metabolism is considered, regional specialist metabolic laboratories.…”

Perspective: The rare must become common

“…A better approach may be to harness the power of the Internet. Freely available online tools can create differential diagnoses 3 , although broad access to such tools has its downsides. They may help to reinforce the concerns of the worried well, for example, leading to unnecessary investigations.…”