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.