The use of the internet in data assimilation in rare diseases

The incidence and prevalence of achalasia is 0.6/100,000 people per year and 1/10,000, respectively. It is difficult then for one center to accumulate a large cohort of patients. One study (Gut 33:1011,1992) described the presenting symptoms in only 38 patients. To approach this problem differently, we used the internet to access a larger patient population. Using search engines at Google and Yahoo, Inc., we identified achalasia support groups. We examined the most populated support group (YSG) and assembled the exchanged messages into 4 categories: support, symptoms, treatment, and diagnosis. Next, a survey modeled after a previous study (ibid) was composed and posted on a university-sponsored Web site for March 2003, advertised to YSG members, and then removed from the server. The results were entered into a database and analyzed. There were 6 support groups identified; 1 was foreign. The most populated site was the Yahoo, Inc., group with 298 active members. We analyzed the 3,222 messages posted from October 6, 2002 through October 5, 2003. The message composition was as follows: 67% support, 16% symptoms, 12% treatment, and 5% diagnosis. Of 298 Yahoo site members, we had 88 respondents to the survey from 9 countries. The data from 83 were analyzed (5 were not completed). Respondents were 66 women (55%), 29 men (24%), and 5 non-gender-identified respondents. They ranged in age from 6 to 72 years at time of diagnosis. In the 83 respondents, dysphagia symptoms were reported by 98%, regurgitation by 68%, chest pain by 81%, weight loss by 69%, and epigastric pain by 67%, similar to those reported in the study cited in Gut. The modalities used to evaluate these achalasia patients were as follows: 83% had monometry, 87% had radiography, and 89% had endoscopy. The mean time from symptom onset to diagnosis was 5 years. The treatments attempted on this population were balloon dilatation in 57%, botulinum toxin injection (Botox) in 8%, myotomy in 12%, by lifestyle/diet modification in 12%, and other treatments in 11%. We believe that the Internet can provide physician-researchers with useful information about common and uncommon diseases on a global basis. The Internet allows patients to voice concerns that they may not freely express to their doctor and provides a modality to collect data from a larger number of patients than may be available at any single institution.