Finding, Treating, and Curing Rare Diseases

Ashish Patel

November 29, 2021

Picture the following scenario:

A patient presents with symptoms including numbness, tremors, and occasional weakness, among others. Genetic testing exists to check for rare cardiovascular diseases and defects, but it is expensive and not currently listed as part of the diagnosis protocol. Because of this, his doctors didn’t order the test. He suffered from these symptoms for years before receiving an accurate diagnosis of a rare cardiovascular disease.

Unfortunately, this type of scenario happens every day. Patients are misdiagnosed because protocols to diagnose rare diseases are uncommon. As a result, patients suffer for years because their doctors treat symptoms without fully uncovering the actual cause. The journey to their diagnosis is a frustrating one not only for the patient, but also for medical providers, researchers, and pharmaceutical companies.

Doctors want to diagnose accurately and give state-of-the-art care, but that’s hard to do when you don’t have the patient’s whole picture. It is nearly impossible to map out a rare disease patient’s journey using your commercial claims data. Why? Patients may travel from specialist to specialist trying to find answers. They may cross cities, state lines, even the entire country, all in a search for answers. From multiple doctors visits, lab tests, imaging studies, and diagnosis codes, the data all ends up in a confusing series of silos.

However, we can help.

We can learn from the data from thousands of patients with correct rare disease diagnoses, dig into their claims and find patterns from their 3-5 years history. CareSet can identify common misdiagnoses and treatments that patients receive based on their set of symptoms. This allows for the creation of proxies and prediction models that, in the long run, save a tremendous amount of time and money, not to mention the incredible relief patients feel.

The better doctors and researchers can understand the pathway to this type of diagnosis, the shorter the path becomes for future patients. This means less frustration, fewer misdiagnosis, and the ability to receive proper treatment and symptom relief much faster.

CareSet has 14-years of ambulatory data, which enables us to pull all of this information, including misdiagnosis and commonly misprescribed medications, to help predict the likelihood that a patient has a rare disease. It’s like a vast bank of knowledge, unblocked and ready to be sifted through.

At this time, over 500 companies are poised to bring curative treatments for rare diseases to the market. This is a sign that we are entering the age of precision medical treatments and we can finally put to bed “pinball medicine” or symptom-based treatment. This is truly incredible both for patients and healthcare providers alike!

Call 713-766-5588 or visit for more information.

Ashish Patel

Ashish is co-founder of CareSet Systems. An entrepreneur and healthcare data transparency advocate, Ashish also founded the DocGraph Journal, bringing together the Healthcare Data Science community along with Politico and ProPublica to publish data sets for scientific advancement. Ashish is currently working to decode Medicare Claims data for Pharmaceutical companies, helping analyze provider teaming, and building robust networks.

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