Championing Rare Disease Awareness with AI Powered Insights

Feb 28, 2023

Championing Rare Disease Awareness with AI Powered Insights


Our goal is to give a voice to three rare diseases, namely Multiple Myeloma, Cushing Disease, and Hereditary Angioedema, by utilizing PatientMetRx® to analyze patient data of lived experiences, stories, and perspectives. Out of the 7,000 rare diseases identified, we will focus on these specific conditions to leverage AI-powered insights and bring attention to these lesser-known illnesses.


What is Rare Disease Day?

‘Rare Disease Day is the globally coordinated movement on rare diseases, working towards equity in social opportunity, healthcare, and access to diagnosis and therapies for people living with a rare disease. Since its creation in 2008, Rare Disease Day has played a critical part in building an international rare disease community that is multi-disease, global, and diverse– but united in purpose.’[1]

In the United States, a rare disease is classified as a medical condition that impacts less than 200,000 people. With close to 7,000 rare diseases identified, it is estimated that over 25 million Americans are affected by these uncommon conditions. [2] Currently, rare diseases impact ‘300 million individuals world-wide, 2.5-5.95% of the population, and 72% of those rare diseases are genetic’.[3]

Our goal is to give a voice to three rare diseases, namely Multiple Myeloma, Cushing Disease, and Hereditary Angioedema, by utilizing PatientMetRx® to analyze patient data of lived experiences, stories, and perspectives. Out of the 7,000 rare diseases identified, we will focus on these specific conditions to leverage AI-powered insights and bring attention to these lesser-known illnesses.


Multiple Myeloma

 Multiple Myeloma is a type of cancer that affects plasma cells, which are a type of white blood cells that produce antibodies to help the body fight infections. These cells become abnormal and grow out of control, forming tumors in the bone marrow and interfering with the production of normal blood cells[4]. Most common symptoms can include bone pain, weakness, fatigue, and recurrent infections.

While there are treatment options, including chemotherapy, targeted therapy, and stem cell transplantation, there is still a need for further research to develop more effective treatments.

At present, Multiple Myeloma patients tend to focus more on relapse and refractory phases rather than their initial care when speaking online (Figure 1). This could be due to the overwhelming nature of receiving an initial diagnosis and the difficulties associated with navigating the early stages of treatment. However, as their treatment progresses, patients with Multiple Myeloma often begin to share their lived experiences on various platforms. Through sharing their knowledge and advocating for one another, they form a peer support network, which enables them to cope with the challenges associated with this disease.


Figure 1: PatientMetRx® data highlighting the percentage of patients discussing their treatment pathway online.


Cushing Disease (also known as Cushing’s Disease) 

‘Cushing Disease is a specific type of Cushing syndrome. It occurs when a pituitary tumor causes the body to make too much cortisol. Cushing disease is the most common form of endogenous (from the body) Cushing syndrome and makes up about 70% of Cushing syndrome cases. About 10 to 15 new cases per million people are diagnosed in the U.S. each year’[5].  In the case of Cushing’s disease, patients frequently require various treatments, such as surgery, radiation therapy, and medication. However, the complexity of these treatments, coupled with their occasional ineffectiveness, can make managing the disease a challenging process. Figure 2 below, based on an analysis of 224 online posts, indicates that 66% of patients chose medication, 32% opted for surgery, while only 1% selected radiation therapy.

Figure 2 – PatientMetRx® patient insight shows the percentage of treatment options patients opt for as part of their treatment pathway for Cushing’s Disease.


To ensure that patients and their families receive the best care possible, it is crucial that their voices are heard. Incorporating AI-powered insights can enable healthcare providers to connect the dots of shared outcomes and patient insights, thereby identifying the most effective treatment options for each individual patient. This approach has the potential to lead to improved treatment outcomes and enhance the overall quality of care delivered to patients. By leveraging the power of AI analytics in conjunction with patient insights, healthcare providers can gain a deeper understanding of rare diseases and the most effective ways to manage them, ultimately resulting in better health outcomes for patients.

Hereditary Angioedema

Hereditary Angioedema (HAE) is a genetic disorder that manifests through recurring episodes of edema or swelling in different parts of the body, including the face, throat, abdomen, and extremities[6]. The swelling can occur suddenly, without any apparent cause, and can last for days. Breathing difficulties, which may be life-threatening, can arise when the airways swell. The cause of ‘HAE may be caused by genetic changes (pathogenic variants) in the C1NH gene (also called the SERPING1 gene) or in the F12 gene. In some cases, the cause is not yet known’[7]. While treatments exist to manage symptoms and prevent severe attacks, there is no known cure for HAE.

Although some environmental factors, such as allergies (see figure 3), may trigger these episodes, why they are triggers for HAE episodes are not yet fully understood. However, AI-powered insights can help improve the diagnosis and treatment of rare diseases like HAE. By analyzing large patient datasets, AI can uncover unknown patterns and risk factors that may contribute to more effective treatments and better symptom management.


Figure 3: PatientMetRx® patient insight into the different triggers that cause an HAE episode.


In summary, rare diseases such as Multiple Myeloma, Cushing Disease, and Hereditary Angioedema can have a significant impact on patients and their families. Further research into the causes and treatments of these diseases is crucial, and raising awareness to reduce the associated stigma is essential. AI platforms like PatientMetRx® provide a valuable opportunity for those affected by rare diseases to have their voices heard by key decision-makers, which can help in determining treatment pathways, and creating research opportunities with pharmaceutical and healthcare providers. As we observe Rare Disease Day, let us unite in supporting those impacted by rare diseases and advocating for the development of new and effective therapies that can improve their quality of life.


Talking Medicines is changing the way that the world markets drugs with PatientMetRx®. A SaaS platform driven by AI, PatientMetRx® provides medical advertising agencies with curated and actionable insights across social posts from millions of patients on prescription medicines. Through these insights, PatientMetRx® is more efficient and effective at delivering patient intelligence, cutting through the noise to get to the heart of who, what, where and how patients and healthcare professionals (HCPs) talk about their experience in the real world.


1. What is Rare Disease Day? – Rare Disease Day

2. Rare Diseases – National Institutes of Health

3. What are the universal challenges faced by those living with a rare disease? – Rare Disease Day

4. What Is Multiple Myeloma? – American Cancer Society

5. Cushing Disease / Cushing Syndrome – Oregon Health & Science University

6. Hereditary angioedema – National Institutes of Health


About PatientMetRx®

PatientMetRx® is an AI accelerated machine learning platform that has turned the liberation of patient sentiment on its head through data science to create a single source of truth about feelings, attitudes, and behaviors. People describe their healthcare experiences through stories on social media, interviews, and research. PatientMetRx® uses advanced data science and technology including its own specialized LLM’s (Drug-GPT™) to structure signals at scale to make the complex simple. Tracking actionable insights and mapping across the patient journey comparing HCP and Patient Voices.  Keep your finger on the pulse by putting the Patient Voice at the center of strategies. If you’re wanting to stay ahead of the curve in this rapidly changing industry then try it out today.



Gold Winner of 2023 PM360's Trailblazer Award. We are the market leaders liberating Patient, HCP, DOL, KOL voice from social sources through data science.

Keep Listening

Looking to do things smarter, faster and more effectively with your marketing? Subscribe to the MetRx Matters newsletter for the latest insights on brands and patient experience.