Welcome to

Orphans in the Desert

GigHacks Objectives1. ImpactThe FDA estimates there are 7,000 orphan diseases (condition affecting less than 200,000 people). There are few small efforts to diagnose these conditions and the estimated number of people affected is unreliable. The NIH at the Office of Rare Diseases Research department and the Undiagnosed Diseases Program (UDP) have conducted some studies. Very few of these studies have resulted in conclusive treatment. Pharmaceutical companies do not have an economic incentive to develop drugs for the relatively small number of people affected per disease.

Most people with these conditions spend years in the pursue of diagnosis and treatment to improve their quality of life. Most have been dismissed by health care practitioners, government, insurance companies, and pharmaceuticals. The economical, social and emotional cost of this pursuit cannot be measured.

GigHacks Objectives1. Impact

Orphans in the Desert is an attempt to cluster sufferers of distinct rare diseases into groups large enough and with a sufficiently well-defined set of symptoms and markers to allow for pharmaceutical companies to develop drugs and for health care providers to develop protocols for treatment. At the same time it aims to help those struggling to recognize the scope of their symptoms and provides a guide to the possibilities for diagnosis of their disease and relief of their symptoms.

GigHacks Objectives2. InnovationInnovation is not only measured on new takes on bright ideas but in how these ideas can be experienced by a larger and usually underserved group of people.

Our approach to gathering information in free format, anyway the user wants to use it allows for more data gathering. The algorithms in the back end of the software are responsible for giving the data structure and IBM’s Watson is responsible for the analytics.

Orphans in the Desert is capitalizing on two innovative concepts. One is the ability to offer always-on connectivity especially for those with limited or no internet service. The other is by allowing any type of unstructured data to be fed into an structured software to analyze and then offer solutions that can be life changing. Not only can we help people with these conditions but also we can provide critical information for health care providers, government agencies, and pharmaceutical companies.

GigHacks Objectives3. StoryMost people suffering from a rare disease spend years without proper diagnose and treatment if they ever get one. There is little incentive, resources and interest in the development of programs gear towards the prompt diagnosis and treatments. In most cases these conditions lead to very poor quality of life and sufferers give up on the hope of finding treatment because they feel betrayed by the medical community, government and pharmaceuticals who dismissed their symptoms.

Orphans in the Desert is a place designed primarily for people with a rare disease. It offers a safe place for them to describe their symptoms in their own way, unbiased and without preconceptions. It also serves as a tool to further the diagnoses and care of these conditions.

The Traditional Approach of Diagnosis of Rare Diseases

Symptom 1

Symptom 3

Symptom 4

Symptom 5

Symptom 6

Symptom 7

Symptom 2

Symptom 8

Doctor Evaluation based on recognized conditions

Patient

Doctor Diagnosis

Orphans in the Desert Approach of Diagnosis of Rare Diseases

Symptom 1Doctor’s noteSymptom 2Blood Test ResultsSymptom 6Symptom 8MRI file Symptom 3RXSymptom 4Symptom 7VideoSymptom 5

Patient Input

Symptom 1

Symptom 3

Symptom 4

Symptom 5

Symptom 6

Symptom 7

Symptom 2

Symptom 8

Patient Watson Analysis

NeurologicalSymptom 6 VideoSkeletalRXSkinSymptom 3Cranio-cervicalMRI FileHEENTSymptom2RespiratorySymptom 1GISymptom 5GUSymptom 8MuscularSymptom 4Symptom 7

Suggested Rare Disease Health Care ProvidersEducational Material

Local ResourcesSupport GroupsClinical Studies

Orphans in the Desert Input of Data

The way data is input in Orphans in the Desert is designed to achieve the following:

1.Unbiased data. The software does not care (for the most part) of gender, ethnicity, social status, economical status, and educational level.

2.Unstructured data. The user will input any format of data for example scanned notes, pictures, Rx, videos, MRI images, blood results, etc.

3.Customized questions according to symptoms. Once the user adds a symptom the program will prompt a follow up details of the particular symptoms. This will help Watson to learn about the user, select possible conditions; and it will enable the user to analyze further their own symptoms to have a better understanding and seek treatment.

4.The system serves as an organization tool and progression of symptoms displayed by categories to take to their health care professionals.

5.The system is designed for someone who just started the journey of discovery or for those more educated about their condition already. This also allows for Watson to learn from users and help others less informed.

6.The information gathered can be analyzed at a micro scenario with each user or a macro with statistic of particular or general diseases.

Illustration of Data InputUserSoftware

Allergies

FoodEnvironmentalChemicalBarometrical

Chemical

Barometrical

RashVertigoLow Blood PressureVomitDizzinessPatchiness

Patchiness

Suggested Conditions1. Mastocystosis2. Mast Cell Activation Disorder

Analysis