Dr. Rachael

Dr. Rachael is a conversational agent, in the form of a virtual caregiver, for use in helping to identify rare diseases. The rationale for the system is grounded in the fact that rare disorders by their very nature are difficult to diagnose unless the caregiver or doctor is familiar with a wide range of these conditions. The conversational agent uses unstructured free-flowing natural language together with a large database of rare disorders, and is easily updatable by human caregivers without any technical expertise. Matching of users' comments with database entries is performed using a general cognition engine; which is able to understand natural language regardless of specific wording or grammar.

After each session, the user is provided with the most likely condition that the user or family member is thought to be at risk of, and a written pre-formulated general description is given, so that suitable health care services can be contacted. Each comment most of the time can relate to more than one condition so counters are kept, and when a given statement relates to more than one condition all conditions counters are increased by one. The final rating of the patient's likely condition is calculated based on which counter is largest, and where there is not sufficient confidence of a given diagnosis. The user can also see, at the end of the session, a short description of the condition(s) most likely to apply to the symptoms discussed. This feature allows the patient or the family to get a firm suggestion even if the session lasts a long time or is even completed over many sittings, hopefully helping in the right direction towards a suitable diagnosis.

This app uses a proprietary general cognition engine, able to “understand” natural language regardless of the specific wording or grammar used in any of the top 10 languages used in Internet and can do some basic first order logic, coupled to the virtual assistant for generating and processing material to help in the diagnosis and continuing support for those at risk of or living with a disease.

We believe that this app offers an attractive option for those who have a need for new, simple, online, confidential quick methods in the general area of e-Health as well as individual users or a professional who might be seeking support for an initial diagnosis as well as 24/7 support for patients.

General characteristics:

- The app communicates with the user through a friendly witty bot named Rachael using natural language in any of the main languages used in Internet such as English, Spanish, French, German, Italian, etc.

- The virtual assistant has the ability to help in the process of diagnosing rares diseases such as:

Crohn's Disease

Acromegaly

Lyme Disease

Meningitis

Porphyria

Dercum's Disease

Multiple Sclerosis

Neuromyelitis Optica (Devic Disease)

Pulmonary Arterial Hypertension

Hemophilia

Guillain-Barre syndrome

Madelung's disease

Marfan syndrome

Paronage Turner Syndrome (Brachial neuritis)

Congenital Contractural Arachnodactyly (Beals syndrome)... now a total of 500 of the more "common" rare diseases! You can check them here: https://www.rachaelrepp.org/raras/rare-diseases/

- The preliminary suggestion of a condition, subject to a more rigorous diagnosis, is obtained based on the comments made by the user together with personal details.

- A personal profile that can be edited, which is also helpful in the preliminary diagnosis process.

- A module to find a brief description of the multiple rares diseases cataloged in an alphabetic list.

- Another module destined to find the contact (phone, name, andress, email and website) of a lot of institutions who treats this rarest diseases, cataloged by the name of the disease.